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GTR000531711.2, last updated: 2019-03-20
GTR000531711.1, last updated: 2017-08-25
GTR000531711.1, last updated: 2017-08-25
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At a Glance
Conditions (1726):
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Abdominal obesity;
11 pairs of ribs;
2-3 finger syndactyly
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- Abdominal obesity
- 11 pairs of ribs
- 2-3 finger syndactyly
- 2-3 toe syndactyly
- 4-5 toe syndactyly
- Abdominal pain
- Abnormal CNS myelination
- Abnormal anterior chamber morphology
- Abnormal aortic morphology
- Abnormal bleeding
- Abnormal blistering of the skin
- Abnormal carotid artery morphology
- Abnormal dermatoglyphics
- Abnormal eyebrow morphology
- Abnormal facial shape
- Abnormal fear/anxiety-related behavior
- Abnormal finger flexion creases
- Abnormal form of the vertebral bodies
- Abnormal hair quantity
- Abnormal hair whorl
- Abnormal immunoglobulin level
- Abnormal joint morphology
- Abnormal localization of kidney
- Abnormal lung lobation
- Abnormal macular morphology
- Abnormal mitochondria in muscle tissue
- Abnormal nasal morphology
- Abnormal natural killer morphology
- Abnormal nipple morphology
- Abnormal pattern of respiration
- Abnormal pericardium morphology
- Abnormal pigmentation of the oral mucosa
- Abnormal pulmonary valve morphology
- Abnormal pupil morphology
- Abnormal pyramidal signs
- Abnormal renal morphology
- Abnormal renal physiology
- Abnormal spermatogenesis
- Abnormal tendon morphology
- Abnormal thrombosis
- Abnormal toenail morphology
- Abnormal vertebral morphology
- Abnormality of abdomen morphology
- Abnormality of adipose tissue
- Abnormality of bone marrow cell morphology
- Abnormality of bone mineral density
- Abnormality of calcium-phosphate metabolism
- Abnormality of calvarial morphology
- Abnormality of chromosome stability
- Abnormality of coagulation
- Abnormality of dental color
- Abnormality of dental enamel
- Abnormality of dental morphology
- Abnormality of eosinophils
- Abnormality of epiphysis morphology
- Abnormality of extrapyramidal motor function
- Abnormality of female external genitalia
- Abnormality of female internal genitalia
- Abnormality of femur morphology
- Abnormality of finger
- Abnormality of immune system physiology
- Abnormality of leukocytes
- Abnormality of metabolism/homeostasis
- Abnormality of mitochondrial metabolism
- Abnormality of movement
- Abnormality of nail color
- Abnormality of neuronal migration
- Abnormality of neutrophils
- Abnormality of pelvic girdle bone morphology
- Abnormality of periauricular region
- Abnormality of reproductive system physiology
- Abnormality of retinal pigmentation
- Abnormality of skin pigmentation
- Abnormality of temperature regulation
- Abnormality of thalamus morphology
- Abnormality of the abdominal wall
- Abnormality of the adrenal glands
- Abnormality of the aortic valve
- Abnormality of the bronchi
- Abnormality of the cardiac septa
- Abnormality of the cardiovascular system
- Abnormality of the cerebral vasculature
- Abnormality of the clavicle
- Abnormality of the dentition
- Abnormality of the ear
- Abnormality of the endocardium
- Abnormality of the eye
- Abnormality of the eyelashes
- Abnormality of the face
- Abnormality of the fingernails
- Abnormality of the fontanelles or cranial sutures
- Abnormality of the foot
- Abnormality of the gastric mucosa
- Abnormality of the genital system
- Abnormality of the hair
- Abnormality of the head
- Abnormality of the helix
- Abnormality of the heme biosynthetic pathway
- Abnormality of the hip bone
- Abnormality of the humerus
- Abnormality of the hypothalamus-pituitary axis
- Abnormality of the integument
- Abnormality of the intervertebral disk
- Abnormality of the intestine
- Abnormality of the kidney
- Abnormality of the liver
- Abnormality of the lymphatic system
- Abnormality of the menstrual cycle
- Abnormality of the metacarpal bones
- Abnormality of the metaphysis
- Abnormality of the mitral valve
- Abnormality of the mouth
- Abnormality of the musculature
- Abnormality of the nail
- Abnormality of the neck
- Abnormality of the nervous system
- Abnormality of the nose
- Abnormality of the oral cavity
- Abnormality of the outer ear
- Abnormality of the palate
- Abnormality of the pancreas
- Abnormality of the parathyroid gland
- Abnormality of the penis
- Abnormality of the peritoneum
- Abnormality of the pharynx
- Abnormality of the philtrum
- Abnormality of the pinna
- Abnormality of the pleura
- Abnormality of the preputium
- Abnormality of the pulmonary artery
- Abnormality of the respiratory system
- Abnormality of the retinal vasculature
- Abnormality of the ribs
- Abnormality of the sacrum
- Abnormality of the sense of smell
- Abnormality of the skin
- Abnormality of the spleen
- Abnormality of the sternum
- Abnormality of the testis
- Abnormality of the thorax
- Abnormality of the thumb
- Abnormality of the thyroid gland
- Abnormality of the tongue
- Abnormality of the ulna
- Abnormality of the upper urinary tract
- Abnormality of the ureter
- Abnormality of the urinary system
- Abnormality of the vagina
- Abnormality of the vertebral column
- Abnormality of the voice
- Abnormality of thrombocytes
- Abnormality of thumb phalanx
- Abnormality of tibia morphology
- Abnormality of toe
- Abnormality of urine catecholamine concentration
- Abnormality of visual evoked potentials
- Abnormally low-pitched voice
- Abnormally prominent line of Schwalbe
- Absent fourth finger distal interphalangeal crease
- Absent nasal septal cartilage
- Absent pigmentation of the ventral chest
- Absent radius
- Absent septum pellucidum
- Absent skin pigmentation
- Absent thumb
- Acanthosis nigricans
- Accelerated skeletal maturation
- Achilles tendon contracture
- Achromatic retinal patches
- Acne
- Acrodysostosis
- Acute leukemia
- Acute lymphoblastic leukemia
- Acute monocytic leukemia
- Acute myeloid leukemia
- Adducted thumb
- Adenocarcinoma
- Adenoma sebaceum
- Adenomatous colonic polyposis
- Adrenal hypoplasia
- Adrenal pheochromocytoma
- Adrenocortical adenoma
- Adrenocortical carcinoma
- Adrenocortical carcinoma, pediatric
- Adrenocortical cytomegaly
- Aganglionic megacolon
- Agenesis of corpus callosum
- Agenesis of maxillary lateral incisor
- Agenesis of permanent teeth
- Aggressive behavior
- Agitation
- Agnosia
- Albinism
- Alkalosis
- Alopecia
- Amaurosis fugax
- Ambiguous genitalia
- Ambiguous genitalia, female
- Ambiguous genitalia, male
- Amblyopia
- Amegakaryocytic thrombocytopenia
- Aminoaciduria
- Anal stenosis
- Anemia
- Anemic pallor
- Angioid streaks of the retina
- Angiokeratoma
- Annular pancreas
- Anomalous splenoportal venous system
- Anonychia
- Anorexia
- Anterior creases of earlobe
- Anterior hypopituitarism
- Anterior rib cupping
- Anteriorly placed anus
- Anteverted nares
- Anxiety
- Aortic dilatation
- Aortic valve stenosis
- Aphalangy of the hands
- Aplasia of metacarpal bones
- Aplasia of the ovary
- Aplasia/Hypoplasia affecting the eye
- Aplasia/Hypoplasia involving the nose
- Aplasia/Hypoplasia of the abdominal wall musculature
- Aplasia/Hypoplasia of the cerebellum
- Aplasia/Hypoplasia of the corpus callosum
- Aplasia/Hypoplasia of the earlobes
- Aplasia/Hypoplasia of the eyebrow
- Aplasia/Hypoplasia of the iris
- Aplasia/Hypoplasia of the lungs
- Aplasia/Hypoplasia of the patella
- Aplasia/Hypoplasia of the radius
- Aplasia/Hypoplasia of the sacrum
- Aplasia/Hypoplasia of the skin
- Aplasia/Hypoplasia of the thumb
- Aplasia/Hypoplasia of the thymus
- Aplasia/Hypoplasia of the uvula
- Aplastic anemia
- Aplastic/hypoplastic toenail
- Apnea
- Aqueductal stenosis
- Arachnodactyly
- Areflexia
- Arnold-Chiari type I malformation
- Arrhythmia
- Arterial thrombosis
- Arteriovenous malformation
- Arthralgia
- Arthritis
- Arthrogryposis multiplex congenita
- Ascites
- Aseptic necrosis
- Asthma
- Astigmatism
- Astrocytoma
- Astrocytosis
- Asymmetric growth
- Ataxia
- Ataxia-telangiectasia-like disorder 1
- Atelectasis
- Ateleiotic dwarfism
- Atrial myxoma, familial
- Atrial septal defect
- Attention deficit hyperactivity disorder
- Atypical nevi in non-sun exposed areas
- Atypical nevus
- Autism spectrum disorder
- Autoimmune hemolytic anemia
- Autosomal dominant hypocalcemia
- Autosomal dominant inheritance
- Axillary freckling
- Axonal degeneration/regeneration
- Azoospermia
- B lymphocytopenia
- B-cell non-Hodgkin lymphoma
- Babinski sign
- Bacterial endocarditis
- Baller-Gerold syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Barrel-shaped chest
- Basal cell carcinoma
- Basal ganglia calcification
- Beckwith-Wiedemann syndrome
- Behavioral abnormality
- Benign gastrointestinal tract tumors
- Benign genitourinary tract neoplasm
- Benign neoplasm of the central nervous system
- Biconcave vertebral bodies
- Bicornuate uterus
- Bicoronal synostosis
- Bifid ribs
- Bifid scrotum
- Bilateral Breast Carcinoma
- Bilateral cleft lip and palate
- Bilateral microphthalmos
- Bilateral sensorineural hearing impairment
- Bilateral vestibular Schwannoma
- Biliary atresia
- Biliary tract abnormality
- Biliary tract neoplasm
- Bimanual synkinesia
- Biparietal narrowing
- Birt-Hogg-Dub syndrome
- Birth length greater than 97th percentile
- Bladder cancer, somatic
- Bladder carcinoma
- Blepharophimosis
- Bloom syndrome
- Blue irides
- Bone cyst
- Bone marrow hypocellularity
- Bone pain
- Bowing of the long bones
- Brachycephaly
- Brachydactyly
- Brachyturricephaly
- Brain atrophy
- Breast adenocarcinoma
- Breast and colorectal cancer
- Breast and/or ovarian cancer
- Breast carcinoma
- Bridged sella turcica
- Brittle hair
- Broad alveolar ridges
- Broad face
- Broad foot
- Broad forehead
- Broad nasal tip
- Broad palm
- Broad ribs
- Broad secondary alveolar ridge
- Broad thumb
- Broad toe
- Bronchiectasis with or without elevated sweat chloride 1
- Bronchogenic cyst
- Bronchomalacia
- Bruising susceptibility
- Bulbous nose
- Bundle branch block
- CNS demyelination
- CNS hypomyelination
- Cachexia
- Cafe-au-lait spot
- Café-au-lait macules with pulmonary stenosis
- Calcaneovalgus deformity
- Calcification of falx cerebri
- Calcinosis
- Calvarial hyperostosis
- Camptodactyly
- Camptodactyly of finger
- Carcinoid tumor
- Carcinoid tumor of intestine
- Carcinoma of cervix
- Carcinoma of colon
- Carcinoma of esophagus
- Carcinoma of male breast
- Carcinoma of pancreas
- Cardiac fibroma
- Cardiac rhabdomyoma
- Cardiomegaly
- Cardiomyopathy
- Cardiomyopathy, restrictive
- Carious teeth
- Carney complex
- Carney triad
- Carpal bone aplasia
- Carpal synostosis
- Cataract
- Cavernous hemangioma
- Cellular immunodeficiency
- Cellulitis
- Central hypoventilation
- Cerebellar atrophy
- Cerebellar hemangioblastoma
- Cerebellar vermis hypoplasia
- Cerebral arteriovenous malformation
- Cerebral atrophy
- Cerebral calcification
- Cerebral cortical atrophy
- Cerebral hemorrhage
- Cerebral hypoplasia
- Cerebral ischemia
- Cerebral palsy
- Cerebro-oculo-facio-skeletal syndrome
- Cervical myelopathy
- Cervical rib
- Charcot-Marie-Tooth disease
- Chemodectoma
- Chest pain
- Childhood hepatocellular carcinoma
- Choanal atresia
- Choanal stenosis
- Cholestasis
- Chondrocalcinosis
- Chondrosarcoma
- Chordoma
- Chorea
- Choreoathetosis
- Choroid plexus carcinoma
- Choroid plexus cyst
- Choroid plexus papilloma
- Chromosomal breakage induced by crosslinking agents
- Chromosomal breakage induced by ionizing radiation
- Chronic atrophic gastritis
- Chronic lung disease
- Cleft palate
- Cleft upper lip
- Cleft uvula
- Clinodactyly
- Clinodactyly of the 5th finger
- Clitoromegaly
- Clubbing
- Clubbing of fingers
- Clubbing of toes
- Coarctation of aorta
- Coarse facial features
- Coarse hair
- Coffin-Siris syndrome 1
- Cognitive impairment
- Coloboma of optic disc
- Colon cancer
- Colonic diverticula
- Colorectal / endometrial cancer
- Colorectal adenoma
- Colorectal cancer
- Combined immunodeficiency
- Communicating hydrocephalus
- Complete atrioventricular canal defect
- Complete duplication of thumb phalanx
- Concave nail
- Conductive hearing impairment
- Cone-shaped epiphyses of the phalanges of the hand
- Cone-shaped epiphysis
- Confetti-like hypopigmented macules
- Congenital amegakaryocytic thrombocytopenia
- Congenital cataract
- Congenital central hypoventilation
- Congenital cerebellar hypoplasia
- Congenital diaphragmatic hernia
- Congenital elevation of scapula
- Congenital heart disease
- Congenital hydrocephalus 1
- Congenital hypertrophy of retinal pigment epithelium
- Congenital hypothyroidism
- Congenital microcephaly
- Congenital nonbullous ichthyosiform erythroderma
- Congenital ocular coloboma
- Congenital omphalocele
- Congenital sensorineural hearing impairment
- Congestive heart failure
- Conjunctival hamartoma
- Conjunctival telangiectasia
- Conjunctivitis
- Constipation
- Convex nasal ridge
- Corneal opacity
- Coronal craniosynostosis
- Coronary artery disease
- Cortical dysplasia
- Cortical gyral simplification
- Cortical tubers
- Costello syndrome
- Cowden syndrome
- Coxa valga
- Coxa vara
- Cranial asymmetry
- Cranial nerve paralysis
- Craniofacial hyperostosis
- Craniosynostosis
- Cryptorchidism
- Cubitus valgus
- Curly hair
- Cutaneous leiomyoma
- Cutaneous leiomyosarcoma
- Cutaneous mastocytosis
- Cutaneous melanoma
- Cutaneous photosensitivity
- Cutaneous telangiectasia and cancer syndrome, familial
- Cutis laxa
- Cutis marmorata
- Cylindromatosis, familial
- Cystic hygroma
- Dandy-Walker syndrome
- Death in childhood
- Decrease in T cell count
- Decreased activity of mitochondrial complex II
- Decreased antibody level in blood
- Decreased body weight
- Decreased circulating ACTH level
- Decreased corneal thickness
- Decreased fertility
- Decreased fertility in females
- Decreased fetal movement
- Decreased fumarate hydratase activity
- Decreased motor nerve conduction velocity
- Decreased nerve conduction velocity
- Decreased number of CD4+ T cells
- Decreased number of peripheral myelinated nerve fibers
- Decreased skull ossification
- Decreased subcutaneous fat
- Deep palmar crease
- Deep philtrum
- Deep plantar creases
- Deep-set nails
- Deeply set eye
- Defective B cell differentiation
- Defective DNA repair after ultraviolet radiation damage
- Deficient excision of UV-induced pyrimidine dimers in DNA
- Delayed eruption of permanent teeth
- Delayed eruption of teeth
- Delayed gross motor development
- Delayed menarche
- Delayed puberty
- Delayed skeletal maturation
- Delayed speech and language development
- Dementia
- Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
- Dental crowding
- Dental enamel pits
- Dental malocclusion
- Depressed nasal bridge
- Depressed nasal ridge
- Depressed nasal tip
- Depression
- Dermal atrophy
- Desmoid tumors
- Developmental regression
- Diabetes mellitus
- Diabetes mellitus type 1
- Diabetes mellitus type 2
- Diaphoresis (with pheochromocytoma)
- Diarrhea
- Diastasis recti
- Diffuse mesangial sclerosis
- Dilatation
- Dilated cardiomyopathy
- Dilation of lateral ventricles
- Dimple chin
- Dislocated radial head
- Displacement of the external urethral meatus
- Disproportionate short-limb short stature
- Disproportionate tall stature
- Distal amyotrophy
- Distal ileal atresia
- Distal muscle weakness
- Distal sensory impairment
- Dolichocephaly
- Down-sloping shoulders
- Downslanted palpebral fissures
- Drash syndrome
- Dry skin
- Duodenal adenocarcinoma
- Duodenal polyposis
- Duodenal stenosis
- Duplicated collecting system
- Duplication of renal pelvis
- Dysarthria
- Dysdiadochokinesis
- Dysgammaglobulinemia
- Dysgerminoma
- Dysharmonic bone age
- Dyskeratosis congenita
- Dysphagia
- Dysplasia of acetabulum
- Dyspnea
- Dystonia
- EEG abnormality
- EMG abnormality
- Early T cell progenitor acute lymphoblastic leukemia
- Ectopic anus
- Ectopic kidney
- Ectropion
- Eczema
- Edema
- Elbow dislocation
- Elbow flexion contracture
- Elevated alpha-fetoprotein
- Elevated basal serum calcitonin
- Elevated calcitonin
- Elevated circulating catecholamine level
- Elevated circulating parathyroid hormone level
- Elevated hepatic transaminases
- Elevated urinary epinephrine
- Elevated urinary norepinephrine
- Embryonal rhabdomyosarcoma
- Emotional lability
- Emphysema
- Enamel-renal syndrome
- Enchondromatosis
- Endocardial fibrosis
- Endometrial carcinoma
- Enlarged cerebellum
- Enlarged kidney
- Enlarged thorax
- Enlarged vertebral pedicles
- Enlargement of the costochondral junction
- Entropion
- Eosinophilia
- Ependymoma
- Epibulbar dermoid
- Epicanthus
- Epidermal nevus
- Epidermoid cyst
- Epididymal cyst
- Epiphyseal dysplasia
- Epiretinal membrane
- Episodic hypertension
- Episodic paroxysmal anxiety
- Epistaxis
- Erectile abnormalities
- Erythema
- Erythrocytosis
- Erythroderma
- Esophageal atresia
- Esophageal neoplasm
- Esophageal varix
- Esophagitis
- Euthyroid multinodular goiter
- Everted lower lip vermilion
- Ewing's sarcoma
- Exercise intolerance
- Exocrine pancreatic insufficiency
- Exostoses
- External ear malformation
- External genital hypoplasia
- Extraadrenal pheochromocytoma
- Extrahepatic biliary duct atresia
- Facial asymmetry
- Facial dysmorphism, immunodeficiency, livedo, and short stature
- Facial erythema
- Facial palsy
- Facial telangiectasia in butterfly midface distribution
- Factor XII deficiency disease
- Failure to thrive
- Failure to thrive in infancy
- Familial cancer of breast
- Familial colorectal cancer
- Familial hypocalciuric hypercalcemia
- Familial medullary thyroid carcinoma
- Familial multiple polyposis syndrome
- Familial multiple trichoepitheliomata
- Familial platelet disorder with associated myeloid malignancy
- Fanconi anemia
- Fanconi anemia, complementation group B
- Fanconi anemia, complementation group I
- Fanconi anemia, complementation group L
- Fanconi anemia, complementation group M
- Fanconi anemia, complementation group N
- Fatal infantile mitochondrial cardiomyopathy
- Fatigue
- Feeding difficulties
- Feeding difficulties in infancy
- Female hypogonadism
- Female pseudohermaphroditism
- Fever
- Few cafe-au-lait spots
- Fibroadenoma of the breast
- Fibrofolliculoma
- Fibroma of ovary
- Fine hair
- Finger syndactyly
- Flared femoral metaphysis
- Flared humeral metaphysis
- Flared iliac wings
- Flat forehead
- Flat nasal alae
- Flat occiput
- Flexion contracture
- Focal cortical dysplasia of Taylor type 2B
- Focal segmental glomerulosclerosis
- Focal seizures with impairment of consciousness or awareness
- Focal white matter lesions
- Foot dorsiflexor weakness
- Foot polydactyly
- Forearm reduction defects
- Fragile nails
- Frasier syndrome
- Freckling
- Frequent falls
- Frontal bossing
- Full cheeks
- Fumarase deficiency
- Functional abnormality of male internal genitalia
- Furrowed tongue
- Gait ataxia
- Gait disturbance
- Galactorrhea
- Ganglioneuroblastoma
- Ganglioneuroma
- Gardner syndrome
- Gastric polyposis
- Gastrointestinal carcinoma
- Gastrointestinal hemorrhage
- Gastrointestinal infarctions
- Gastrointestinal polyposis
- Gastrointestinal stroma tumor
- Gaze-evoked nystagmus
- Generalized hyperpigmentation
- Generalized hypopigmentation
- Generalized hypotonia
- Generalized muscle hypertrophy
- Generalized myoclonic seizures
- Generalized tonic-clonic seizures
- Genu recurvatum
- Genu valgum
- Giant melanosomes in melanocytes
- Gingival fibromatosis
- Gingival overgrowth
- Gingivitis
- Glaucoma
- Glioblastoma
- Glioma
- Gliosis
- Global developmental delay
- Glomerulopathy
- Glomus jugular tumor
- Glomus tympanicum paraganglioma
- Glucagonoma syndrome
- Glucose intolerance
- Goiter
- Gonadal dysgenesis
- Gonadal tissue inappropriate for external genitalia or chromosomal sex
- Gonadoblastoma
- Gorlin syndrome
- Growth delay
- Growth hormone deficiency
- Growth hormone excess
- Gynecomastia
- Hallucinations
- Hallux valgus
- Hamartoma
- Hamartomatous polyposis
- Hamartomatous stomach polyps
- Hammertoe
- Hand polydactyly
- Hashimoto thyroiditis
- Headache
- Hearing abnormality
- Hearing impairment
- Heart murmur
- Hemangioma
- Hematochezia
- Hematologic neoplasm
- Hematuria
- Hemihypertrophy
- Hemimegalencephaly
- Hemiparesis
- Hemiplegia/hemiparesis
- Hemivertebrae
- Hemolytic anemia
- Hemoptysis
- Hepatic arteriovenous malformation
- Hepatic failure
- Hepatic steatosis
- Hepatoblastoma
- Hepatocellular carcinoma
- Hepatocellular necrosis
- Hepatomegaly
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
- Hereditary breast and ovarian cancer syndrome
- Hereditary cancer-predisposing syndrome
- Hereditary cutaneous melanoma
- Hereditary diffuse gastric cancer
- Hereditary multiple osteochondromas
- Hereditary nonpolyposis colorectal carcinoma
- Hereditary palmoplantar keratoderma
- Hereditary pancreatitis
- Hernia of the abdominal wall
- Heterochromia iridis
- High forehead
- High palate
- High pitched voice
- Hip dislocation
- Hirsutism
- Hoarse voice
- Hoarse voice (caused by tumor impingement)
- Hodgkin lymphoma
- Holoprosencephaly 7
- Holoprosencephaly sequence
- Horseshoe kidney
- Hurthle cell thyroid adenoma
- Hydrocele testis
- Hydronephrosis
- Hyperactivity
- Hypercalcemia
- Hypercalciuria
- Hypercalciuric hypercalcemia
- Hypercoagulability
- Hypercortisolism
- Hyperemesis gravidarum
- Hyperextensibility of the finger joints
- Hyperextensible skin
- Hypergonadotropic hypogonadism
- Hyperhidrosis
- Hyperinsulinemia
- Hyperkeratosis
- Hyperlordosis
- Hypermagnesemia
- Hypermelanotic macule
- Hypermetropia
- Hyperostosis
- Hyperparathyroidism
- Hyperphosphatemia
- Hyperphosphaturia
- Hyperpigmentation of the skin
- Hyperplastic colonic polyposis
- Hyperprolactinemia
- Hyperreflexia
- Hypertelorism
- Hypertension
- Hypertension associated with pheochromocytoma
- Hypertensive crisis
- Hypertensive retinopathy
- Hyperthyroidism
- Hyperthyroidism, familial gestational
- Hyperthyroidism, nonautoimmune
- Hypertonia
- Hypertrichosis
- Hypertriglyceridemia
- Hypertrophic cardiomyopathy
- Hypoalbuminemia
- Hypocalcemia
- Hypocalciuria
- Hypodysplasia of the corpus callosum
- Hypoglycemia
- Hypogonadism
- Hypokalemia
- Hypomagnesemia
- Hypomelanotic macule
- Hypometric saccades
- Hypoparathyroidism familial isolated
- Hypophosphatemia
- Hypophosphatemic rickets
- Hypopigmentation of hair
- Hypopigmentation of the fundus
- Hypopigmentation of the skin
- Hypopigmented skin patches
- Hypoplasia of dental enamel
- Hypoplasia of penis
- Hypoplasia of proximal fibula
- Hypoplasia of proximal radius
- Hypoplasia of the abdominal wall musculature
- Hypoplasia of the brainstem
- Hypoplasia of the corpus callosum
- Hypoplasia of the fovea
- Hypoplasia of the maxilla
- Hypoplasia of the ovary
- Hypoplasia of the premaxilla
- Hypoplasia of the radius
- Hypoplasia of the thymus
- Hypoplasia of the ulna
- Hypoplasia of the zygomatic bone
- Hypoplastic iliac wing
- Hypoplastic iris stroma
- Hypoplastic left heart syndrome
- Hypoplastic philtrum
- Hypoplastic toenails
- Hypoplastic vertebral bodies
- Hypoproteinemia
- Hyporeflexia
- Hyposmia
- Hypospadias
- Hypotelorism
- Hypotension
- Hypothyroidism
- Hypotrichosis 8
- Hypsarrhythmia
- Ichthyosis
- Idiopathic fibrosing alveolitis, chronic form
- Idiopathic generalized epilepsy
- IgA deficiency
- IgG deficiency
- IgM deficiency
- Immunodeficiency
- Immunoglobulin IgG2 deficiency
- Impaired platelet aggregation
- Impaired smooth pursuit
- Impaired temperature sensation
- Imperforate anus
- Incoordination
- Increased CSF lactate
- Increased analgesia from kappa-opioid receptor agonist, female-specific
- Increased bone mineral density
- Increased cellular sensitivity to UV light
- Increased circulating ACTH level
- Increased circulating cortisol level
- Increased circulating renin level
- Increased hematocrit
- Increased hemoglobin
- Increased intracranial pressure
- Increased intramyocellular lipid droplets
- Increased nuchal translucency
- Increased number of teeth
- Increased red blood cell mass
- Increased serum lactate
- Increased thyroid-stimulating hormone level
- Infantile spasms
- Inflammatory abnormality of the eye
- Inguinal freckling
- Inguinal hernia
- Insulin resistance
- Insulinoma
- Intellectual disability
- Intellectual disability, mild
- Intellectual disability, profound
- Intellectual functioning disability
- Intention tremor
- Interrupted aortic arch
- Intestinal bleeding
- Intestinal carcinoid
- Intestinal malrotation
- Intestinal obstruction
- Intestinal polyposis
- Intracranial hemorrhage
- Intractable diarrhea
- Intraocular melanoma
- Intrauterine growth restriction
- Intussusception
- Inversion of nipple
- Involuntary movements
- Iris coloboma
- Iron deficiency anemia
- Irregular hyperpigmentation
- Irregular ossification at anterior rib ends
- Irregular ossification of hand bones
- Ivory epiphyses
- Joint contracture of the hand
- Joint dislocation
- Joint hypermobility
- Joint laxity
- Joint swelling
- Juvenile colonic polyposis
- Juvenile cortical cataract
- Juvenile gastrointestinal polyposis
- Juvenile myelomonocytic leukemia
- Juvenile onset
- Juvenile polyposis syndrome
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Juvenile posterior subcapsular lenticular opacities
- Juvenile zonular cataracts
- Keloid formation
- Keratitis
- Kyphoscoliosis
- Kyphosis
- Lack of skin elasticity
- Lack of subcutaneous fatty tissue
- Lacrimation abnormality
- Lactic acidosis
- Lambdoidal craniosynostosis
- Large basal ganglia
- Large beaked nose
- Large earlobe
- Large eyes
- Large face
- Large fontanelles
- Large for gestational age
- Large hands
- Laryngeal carcinoma
- Laryngomalacia
- Laryngotracheal stenosis
- Left ventricular hypertrophy
- Leukemia
- Leukemia, acute lymphoblastic, susceptibility to
- Leukemia, acute myeloid, susceptibility to
- Leukocoria
- Leukocytosis
- Leukoencephalopathy
- Leukopenia
- Lhermitte-Duclos disease
- Li-Fraumeni syndrome
- Li-Fraumeni-like syndrome
- Limitation of joint mobility
- Limited elbow extension
- Limited elbow movement
- Limited knee extension
- Limited shoulder movement
- Lip hyperpigmentation
- Lipoatrophy
- Lipodystrophy
- Lipoma
- Lisch nodules
- Liver cirrhosis
- Long eyelashes
- Long face
- Long hallux
- Long nose
- Long penis
- Long philtrum
- Long upper lip
- Loss of voice
- Low anterior hairline
- Low posterior hairline
- Low-set ears
- Low-set, posteriorly rotated ears
- Lower limb asymmetry
- Lower limb muscle weakness
- Lower limb spasticity
- Lung adenocarcinoma
- Lung segmentation defects
- Lymphadenopathy
- Lymphangioma
- Lymphangiomyomatosis
- Lymphedema
- Lymphedema, primary, with myelodysplasia
- Lymphoedema
- Lymphoma
- Lymphopenia
- Lynch syndrome
- MEN2 phenotype: Unclassified
- MEN2 phenotype: Unknown
- MYH-associated polyposis
- Macrocephalus
- Macrocephaly/autism syndrome
- Macrocytic anemia
- Macrodactyly
- Macrodactyly of finger
- Macroglossia
- Macrotia
- Madelung deformity
- Madelung-like forearm deformities
- Malabsorption
- Malar flattening
- Malar prominence
- Male infertility
- Male pseudohermaphroditism
- Malformation of the heart and great vessels
- Malignant genitourinary tract tumor
- Malignant melanoma of skin
- Malignant tumor of prostate
- Malignant tumor of testis
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibular prognathia
- Mantle cell lymphoma
- Mast cell disease, systemic
- Mast cell leukemia
- Mastocytosis
- Mastoiditis
- Meacham syndrome
- Meckel diverticulum
- Median cleft lip and palate
- Mediastinal lymphadenopathy
- Medullary thyroid carcinoma
- Medulloblastoma
- Megakaryocytopenia
- Melanocytic nevus
- Melanoma
- Melanoma-pancreatic cancer syndrome
- Memory impairment
- Meningioma
- Menstrual irregularities
- Mental deterioration
- Merkel cell skin cancer
- Mesothelioma
- Mesothelioma, malignant
- Metabolic acidosis
- Metachondromatosis
- Metaphyseal chondrodysplasia
- Metaphyseal irregularity
- Metaphyseal sclerosis
- Metaphyseal widening
- Metatarsus adductus
- Microcephaly
- Microcephaly, normal intelligence and immunodeficiency
- Microcornea
- Microcytic anemia
- Microdontia
- Microglossia
- Micrognathia
- Micromelia
- Micronodular cirrhosis
- Micropenis
- Microphthalmia
- Microtia
- Midface capillary hemangioma
- Midface retrusion
- Midline defect of the nose
- Migraine
- Mild global developmental delay
- Milia
- Missing ribs
- Mitochondrial complex II deficiency
- Mitochondrial diseases
- Mitral regurgitation
- Mitral stenosis
- Mitral valve prolapse
- Monocytopenia
- Mood changes
- Mosaic variegated aneuploidy syndrome 1
- Motor delay
- Mottled pigmentation
- Mucosal telangiectasiae
- Multicystic kidney dysplasia
- Multinodular goiter
- Multiple cafe-au-lait spots
- Multiple congenital anomalies
- Multiple congenital exostosis
- Multiple cutaneous leiomyomas
- Multiple digital exostoses
- Multiple endocrine neoplasia
- Multiple endocrine neoplasia IIA
- Multiple fibrofolliculomas
- Multiple lentigines
- Multiple lipomas
- Multiple renal cysts
- Muscle cramps
- Muscle weakness
- Muscular Diseases
- Muscular hypotonia
- Myalgia
- Myelodysplasia
- Myelodysplastic syndrome
- Myelofibrosis
- Myeloproliferative disorder
- Myhre syndrome
- Myocardial necrosis
- Myoclonus
- Myopathy, congenital, with excess of muscle spindles
- Myopia
- Myxoid subcutaneous tumors
- Narrow chest
- Narrow face
- Narrow forehead
- Narrow mouth
- Narrow nasal bridge
- Narrow sacroiliac notch
- Narrow vertebral interpedicular distance
- Nasal polyposis
- Nasopharyngeal carcinoma
- Nausea and vomiting
- Neonatal epiphyseal stippling
- Neonatal hypoglycemia
- Neonatal hypotonia
- Neonatal respiratory distress
- Neoplasia of the nasopharynx
- Neoplasm
- Neoplasm of brain
- Neoplasm of lung
- Neoplasm of ovary
- Neoplasm of stomach
- Neoplasm of the adrenal cortex
- Neoplasm of the adrenal gland
- Neoplasm of the breast
- Neoplasm of the colon
- Neoplasm of the endocrine system
- Neoplasm of the gastrointestinal tract
- Neoplasm of the heart
- Neoplasm of the liver
- Neoplasm of the middle ear
- Neoplasm of the nervous system
- Neoplasm of the oral cavity
- Neoplasm of the pancreas
- Neoplasm of the parathyroid gland
- Neoplasm of the rectum
- Neoplasm of the skeletal system
- Neoplasm of the skin
- Neoplasm of the small intestine
- Neoplasm of the thyroid gland
- Neoplasm of uterus
- Nephroblastoma
- Nephroblastomatosis
- Nephrocalcinosis
- Nephrogenic rest
- Nephrolithiasis
- Nephropathy
- Nephrotic syndrome
- Neuroblastoma
- Neurodegeneration
- Neuroendocrine neoplasm
- Neurofibromas
- Neurofibromatosis, familial spinal
- Neurofibromatosis-Noonan syndrome
- Neurofibrosarcoma
- Neurological speech impairment
- Neutropenia
- Nevus
- Nevus sebaceous
- Nevus, woolly hair
- Nijmegen breakage syndrome-like disorder
- Nodular goiter
- Non-Hodgkin lymphoma
- Non-midline cleft lip
- Non-small cell lung cancer
- Non-syndromic oligodontia
- Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
- Noonan syndrome
- Noonan syndrome with multiple lentigines
- Numerous nevi
- Numerous pigmented freckles
- Nystagmus
- Obesity
- Obstructive sleep apnea syndrome
- Occasional neurofibromas
- Ocular albinism
- Oculocutaneous albinism
- Oculomotor apraxia
- Odontogenic keratocysts of the jaw
- Odontogenic neoplasm
- Odontoma
- Oligodontia
- Oligodontia-colorectal cancer syndrome
- Oligohydramnios
- Oligomenorrhea
- Onion bulb formation
- Opacification of the corneal stroma
- Open mouth
- Open operculum
- Ophthalmoparesis
- Ophthalmoplegia
- Optic atrophy
- Optic nerve dysplasia
- Optic nerve glioma
- Oral cleft
- Orbital cyst
- Orofacial cleft
- Oropharyngeal squamous cell carcinoma
- Osteoarthritis
- Osteolysis
- Osteoma
- Osteopenia
- Osteosarcoma
- Otitis media
- Ovarian cancer
- Ovarian cyst
- Ovarian gonadoblastoma
- Ovarian papillary adenocarcinoma
- Overgrowth
- Overgrowth of external genitalia
- Overlapping fingers
- Overlapping toe
- Ovoid vertebral bodies
- PTEN hamartoma tumor syndrome
- Pachygyria
- Pallor
- Palmar pits
- Palmoplantar keratoderma
- Palpebral edema
- Palpitations
- Palpitations (with pheochromocytoma)
- Pancreatic adenocarcinoma
- Pancreatic calcification
- Pancreatic cysts
- Pancreatic hyperplasia
- Pancreatic islet-cell hyperplasia
- Pancreatic pseudocyst
- Pancreatic squamous cell carcinoma
- Pancreatitis
- Pancytopenia
- Panhypopituitarism
- Papillary cystadenoma of the epididymis
- Papillary renal cell carcinoma
- Papillary thyroid carcinoma
- Papule
- Paradoxical increased cortisol secretion on dexamethasone suppression test
- Paraganglioma
- Paraganglioma and gastric stromal sarcoma
- Paraganglioma-related cranial nerve palsy
- Paraparesis
- Parathyroid adenoma
- Parathyroid carcinoma
- Parathyroid hyperplasia
- Paresthesia
- Parietal bossing
- Paronychia
- Partial albinism
- Partial congenital absence of teeth
- Patellar aplasia
- Patellar hypoplasia
- Patent ductus arteriosus 1
- Pectus carinatum
- Pectus excavatum
- Pectus excavatum of inferior sternum
- Pelvic bone exostoses
- Pelvic kidney
- Peptic ulcer
- Periampullary adenoma
- Pericardial effusion
- Perineal fistula
- Peripheral Schwannoma
- Peripheral arteriovenous fistula
- Peripheral axonal atrophy
- Peripheral nerve compression
- Peripheral neuropathy
- Peripheral thrombosis
- Persistence of hemoglobin F
- Pes cavus
- Pes planus
- Peutz-Jeghers syndrome
- Pheochromocytoma
- Photophobia
- Piebaldism
- Pigmented micronodular adrenocortical disease
- Pili torti
- Pilomatrixoma
- Pituitary adenoma
- Pituitary adenoma predisposition
- Pituitary dependent hypercortisolism
- Pituitary growth hormone cell adenoma
- Pituitary prolactin cell adenoma
- Plagiocephaly
- Plantar pits
- Platyspondyly
- Plethora
- Pleural effusion
- Pleuropulmonary blastoma
- Plexiform neurofibroma
- Pneumothorax
- Pneumothorax, primary spontaneous
- Poikiloderma
- Pointed chin
- Polycystic kidney dysplasia
- Polycystic ovaries
- Polycythemia
- Polydactyly
- Polydipsia
- Polyhydramnios
- Polymicrogyria
- Polysplenia
- Polyuria
- Poor coordination
- Poor suck
- Poor wound healing
- Porencephalic cyst
- Portal hypertension
- Positive regitine blocking test
- Postaxial hand polydactyly
- Posteriorly rotated ears
- Postmenopausal osteoporosis
- Postnatal macrocephaly
- Potter facies
- Preauricular pit
- Preauricular skin tag
- Precocious puberty
- Precocious puberty with Sertoli cell tumor
- Premature arteriosclerosis
- Premature birth
- Premature chromatid separation
- Premature chromatid separation trait
- Premature graying of hair
- Prematurely aged appearance
- Prenatal movement abnormality
- Primary adrenal insufficiency
- Primary amenorrhea
- Primary hypercorticolism
- Primary hyperparathyroidism
- Primary ovarian failure
- Primordial dwarfism
- Profuse pigmented skin lesions
- Progeroid facial appearance
- Progressive leukoencephalopathy
- Progressive macrocephaly
- Progressive vitiligo
- Projection of scalp hair onto lateral cheek
- Prolonged G2 phase of cell cycle
- Prolonged bleeding time
- Prominent fingertip pads
- Prominent forehead
- Prominent metopic ridge
- Prominent nasal bridge
- Prominent nasolabial fold
- Prominent nose
- Prominent occiput
- Proportionate short stature
- Proptosis
- Prostate neoplasm
- Proteinuria
- Proteus syndrome
- Proteus-like syndrome
- Protruding ear
- Protuberances at ends of long bones
- Proximal femoral epiphysiolysis
- Proximal femoral metaphyseal irregularity
- Pruritus
- Pseudopapilledema
- Psychosis
- Psychotic mentation
- Ptosis
- Pulmonary arterial hypertension
- Pulmonary arteriovenous malformation
- Pulmonary capillary hemangiomatosis
- Pulmonary embolism
- Pulmonary fibrosis
- Pulmonary hypoplasia
- Pulmonary infiltrates
- Pulmonary lymphangiomyomatosis
- Pulmonic stenosis
- Pulmonic valve myxoma
- Pulsatile tinnitus (tympanic paraganglioma)
- Purpura
- Pyle metaphyseal dysplasia
- Pyloric stenosis
- Radial deviation of finger
- Radioulnar synostosis
- Ragged-red muscle fibers
- Rapadilino syndrome
- Rasopathy
- Rectal prolapse
- Rectovaginal fistula
- Recurrent aphthous stomatitis
- Recurrent bronchitis
- Recurrent fractures
- Recurrent fungal infections
- Recurrent infection of the gastrointestinal tract
- Recurrent infections
- Recurrent lower respiratory tract infections
- Recurrent mycobacterium avium complex infections
- Recurrent pancreatitis
- Recurrent paroxysmal headache
- Recurrent pneumonia
- Recurrent respiratory infections
- Recurrent urinary tract infections
- Recurrent viral infections
- Red hair
- Reduced bone mineral density
- Reduced consciousness/confusion
- Reduced factor XIII activity
- Reduced number of teeth
- Reduced tendon reflexes
- Reduced visual acuity
- Redundant neck skin
- Relative macrocephaly
- Renal adysplasia
- Renal agenesis
- Renal angiomyolipoma
- Renal artery stenosis
- Renal cell carcinoma, papillary, 1
- Renal cortical adenoma
- Renal cyst
- Renal dysplasia
- Renal hamartoma
- Renal hamartomas nephroblastomatosis and fetal gigantism
- Renal hypoplasia
- Renal hypoplasia/aplasia
- Renal insufficiency
- Renal neoplasm
- Respiratory failure
- Respiratory insufficiency
- Restrictive ventilatory defect
- Reticulocytopenia
- Retinal calcification
- Retinal capillary hemangioma
- Retinal degeneration
- Retinal detachment
- Retinal hamartoma
- Retinitis pigmentosa
- Retinoblastoma
- Retinopathy
- Retrognathia
- Rhabdomyosarcoma
- Rib exostoses
- Rib fusion
- Ridged nail
- Rocker bottom foot
- Rothmund-Thomson syndrome
- Rough bone trabeculation
- Round face
- Russell-Silver syndrome
- Sacral dimple
- Sacrococcygeal pilonidal abnormality
- Sagittal craniosynostosis
- Salivary gland neoplasm
- Sandal gap
- Sarcoma
- Scapular exostoses
- Scapular winging
- Schwannoma
- Scoliosis
- Scrotal hypoplasia
- Sebaceous gland carcinoma
- Seckel syndrome
- Secondary amenorrhea
- Secundum atrial septal defect
- Seizures
- Selective tooth agenesis
- Semilobar holoprosencephaly
- Sensorineural hearing loss
- Sepsis
- Severe combined immunodeficiency disease
- Severe global developmental delay
- Severe short stature
- Shagreen patch
- Shield chest
- Short 4th metacarpal
- Short chin
- Short distal phalanx of finger
- Short distal phalanx of the thumb
- Short finger
- Short foot
- Short fourth metatarsal
- Short humerus
- Short long bone
- Short metacarpal
- Short metatarsal
- Short middle phalanx of the 5th finger
- Short neck
- Short nose
- Short palm
- Short palpebral fissure
- Short phalanx of finger
- Short philtrum
- Short ribs
- Short sacroiliac notch
- Short stature
- Short sternum
- Short thorax
- Short thumb
- Short toe
- Shwachman syndrome
- Simpson-Golabi-Behmel syndrome
- Single interphalangeal crease of fifth finger
- Single median maxillary incisor
- Single transverse palmar crease
- Single umbilical artery
- Sinusitis
- Sirenomelia
- Situs inversus totalis
- Six lumbar vertebrae
- Skeletal dysplasia
- Skeletal muscle atrophy
- Skeletal muscle hypertrophy
- Skin rash
- Skin tags
- Skin ulcer
- Sleep disturbance
- Slender nose
- Sloping forehead
- Slow-growing hair
- Slurred speech
- Small anterior fontanelle
- Small cell lung cancer
- Small for gestational age
- Small hand
- Small intestine carcinoid
- Small nail
- Soft tissue sarcoma
- Somatotroph adenoma
- Sparse hair
- Sparse scalp hair
- Spasticity
- Specific learning disability
- Spermatocytic seminoma
- Spiegler-Brooke syndrome
- Spina bifida
- Spina bifida occulta
- Spinal canal stenosis
- Spinal cord tumor
- Spinal hemangioblastoma
- Spinal neurofibromas
- Splenomegaly
- Split hand
- Spontaneous abortion
- Spontaneous hematomas
- Spontaneous pneumothorax
- Spotty hyperpigmentation
- Spotty hypopigmentation
- Squamous cell carcinoma
- Squamous cell carcinoma of the head and neck
- Squamous cell carcinoma of the skin
- Stage 5 chronic kidney disease
- Status epilepticus
- Steatorrhea
- Steppage gait
- Stiff interphalangeal joints
- Stiff skin
- Stillbirth
- Stomach cancer
- Strabismus
- Stress/infection-induced lactic acidosis
- Striae distensae
- Stroke
- Subacute progressive viral hepatitis
- Subcutaneous calcification
- Subcutaneous hemorrhage
- Subcutaneous lipoma
- Subcutaneous nodule
- Subependymal nodules
- Submucous cleft lip
- Subungual fibromas
- Subvalvular aortic stenosis
- Sudden cardiac death
- Sudden death
- Superior pectus carinatum
- Supernumerary nipple
- Supernumerary ribs
- Supravalvar aortic stenosis
- Symmetric spinal nerve root neurofibromas
- Syndactyly
- Synophrys
- Synostosis of joints
- Synovitis
- T-cell acute lymphoblastic leukemia
- T-cell prolymphocytic leukemia
- Tachycardia
- Tachycardia (with pheochromocytoma)
- Tachypnea
- Talipes
- Talipes equinovarus
- Tall stature
- Tapered finger
- Telangiectases of the cheeks
- Telangiectasia
- Telangiectasia macularis eruptiva perstans
- Telangiectasia of the skin
- Telecanthus
- Tented upper lip vermilion
- Teratoma
- Testicular neoplasm
- Tetany
- Tetralogy of Fallot
- Thick corpus callosum
- Thick eyebrow
- Thick lower lip vermilion
- Thickened calvaria
- Thickened helices
- Thickened nuchal skin fold
- Thickened skin
- Thin nail
- Thin skin
- Thin upper lip vermilion
- Thin vermilion border
- Third degree atrioventricular block
- Thoracic scoliosis
- Thrombocytopenia
- Thrombocytosis
- Thrombocytosis, benign familial microcytic
- Thrombophlebitis
- Thymus hyperplasia
- Thyroid adenoma
- Thyroid adenoma, hyperfunctioning
- Thyroid cancer
- Thyroid carcinoma
- Thyroid follicular hyperplasia
- Thyroid hyperplasia
- Thyroid hypoplasia
- Thyroiditis
- Tibial pseudoarthrosis
- Tietz syndrome
- Tiger tail banding
- Tinnitus
- Toe syndactyly
- Total anomalous pulmonary venous return
- Tracheoesophageal fistula
- Tracheomalacia
- Transient myeloproliferative disorder of Down syndrome
- Transitional cell carcinoma of the bladder
- Transposition of the great arteries
- Tremor
- Triangular face
- Triangular mouth
- Trichothiodystrophy 1, photosensitive
- Trigonocephaly
- Triphalangeal thumb
- True hermaphroditism
- Truncal obesity
- Tuberous sclerosis syndrome
- Tumor susceptibility linked to germline BAP1 mutations
- Turcot syndrome
- Two carpal ossification centers present at birth
- Tyrosinase-negative oculocutaneous albinism
- Ulnar bowing
- Ulnar deviation of finger
- Umbilical hernia
- Unclassifed
- Underdeveloped nasal alae
- Unerupted tooth
- Ungual fibroma
- Unilateral renal agenesis
- Unilateral vestibular Schwannoma
- Upslanted palpebral fissure
- Urinary tract neoplasm
- Urogenital fistula
- Urticaria
- Uterine leiomyoma
- Uterine leiomyosarcoma
- Uv-induced skin damage, susceptibility to
- VACTERL association with hydrocephalus
- Vagal paraganglioma
- Vaginal atresia
- Vaginal neoplasm
- Varicocele
- Varicose veins
- Vater association with macrocephaly and ventriculomegaly
- Venous insufficiency
- Venous thrombosis
- Ventricular septal defect
- Ventriculomegaly
- Verrucae
- Vertebral compression fractures
- Vertebral fusion
- Vertebral segmentation defect
- Vertebral wedging
- Vertigo
- Vesicoureteral reflux
- Vestibular Schwannoma
- Vestibular hypofunction
- Villous atrophy
- Visceral angiomatosis
- Visceromegaly
- Visual field defect
- Visual impairment
- Vitiligo
- Vitreous hemorrhage
- Vocal cord paralysis (caused by tumor impingement)
- Volvulus
- Von Hippel-Lindau syndrome
- Waardenburg syndrome
- Weaver syndrome
- Webbed neck
- Weight loss
- Werner syndrome
- White eyebrow
- White eyelashes
- White forelock
- White hair
- Wide anterior fontanel
- Wide mouth
- Wide nasal bridge
- Wide nose
- Wilms tumor 1
- Wolff-Parkinson-White syndrome
- Wooly hair
- XFE progeroid syndrome
- Xeroderma pigmentosum
- Xeroderma pigmentosum, group F
- Zollinger-Ellison syndrome
- progressive
Genes (124):
Help
AIP (11q13.2);
ALK (2p23.2-23.1);
APC (5q22.2);
ATM (11q22.3);
ATR (3q23)
more...
⨉
- AIP (11q13.2)
- ALK (2p23.2-23.1)
- APC (5q22.2)
- ATM (11q22.3)
- ATR (3q23)
- AXIN2 (17q24.1)
- BAP1 (3p21.1)
- BARD1 (2q35)
- BLM (15q26.1)
- BMPR1A (10q23.2)
- BRCA1 (17q21.31)
- BRCA2 (13q13.1)
- BRIP1 (17q23.2)
- BUB1B (15q15.1)
- CASR (3q13.33-21.1)
- CDC73 (1q31.2)
- CDH1 (16q22.1)
- CDK4 (12q14.1)
- CDKN1B (12p13.1)
- CDKN1C (11p15.4)
- CDKN2A (9p21.3)
- CEBPA (19q13.11)
- CHEK2 (22q12.1)
- CYLD (16q12.1)
- DDB2 (11p11.2)
- DICER1 (14q32.13)
- DIS3L2 (2q37.1)
- EGLN1 (1q42.2)
- EPCAM (2p21)
- ERCC2 (19q13.32)
- ERCC3 (2q14.3)
- ERCC4 (16p13.12)
- ERCC5 (13q33.1)
- EXO1 (1q43)
- EXT1 (8q24.11)
- EXT2 (11p11.2)
- EZH2 (7q36.1)
- FANCA (16q24.3)
- FANCB (Xp22.2)
- FANCC (9q22.32)
- FANCD2 (3p25.3)
- FANCE (6p21.31)
- FANCF (11p14.3)
- FANCG (9p13.3)
- FANCI (15q26.1)
- FANCL (2p16.1)
- FANCM (14q21.2)
- FH (1q43)
- FLCN (17p11.2)
- GALNT12 (9q22.33)
- GATA2 (3q21.3)
- GPC3 (Xq26.2)
- GREM1 (15q13.3)
- HOXB13 (17q21.32)
- HRAS (11p15.5)
- KIF1B (1p36.22)
- KIT (4q12)
- MAX (14q23.3)
- MC1R (16q24.3)
- MEN1 (11q13.1)
- MET (7q31.2)
- MITF (3p13)
- MLH1 (3p22.2)
- MPL (1p34.2)
- MRE11 (11q21)
- MSH2 (2p21-16.3)
- MSH3 (5q14.1)
- MSH6 (2p16.3)
- MUTYH (1p34.1)
- NBN (8q21.3)
- NF1 (17q11.2)
- NF2 (22q12.2)
- PALB2 (16p12.2)
- PDGFRA (4q12)
- PHOX2B (4p13)
- PICALM (11q14.2)
- PMS1 (2q32.2)
- PMS2 (7p22.1)
- POLD1 (19q13.33)
- POLE (12q24.33)
- PRKAR1A (17q24.2)
- PRKDC (8q11.21)
- PRSS1 (7q34)
- PTCH1 (9q22.32)
- PTEN (10q23.31)
- PTPN11 (12q24.13)
- RAD50 (5q31.1)
- RAD51 (15q15.1)
- RAD51C (17q22)
- RAD51D (17q12)
- RB1 (13q14.2)
- RBBP8 (18q11.2)
- RBM15 (1p13.3)
- RECQL4 (8q24.3)
- RET (10q11.21)
- ROBO2 (3p12.3)
- RUNX1 (21q22.12)
- SBDS (7q11.21)
- SDHA (5p15.33)
- SDHAF2 (11q12.2)
- SDHB (1p36.13)
- SDHC (1q23.3)
- SDHD (11q23.1)
- SLX4 (16p13.3)
- SMAD4 (18q21.2)
- SMARCA4 (19p13.2)
- SMARCB1 (22q11.23)
- SMARCE1 (17q21.2)
- STK11 (19p13.3)
- SUFU (10q24.32)
- TERT (5p15.33)
- TMEM127 (2q11.2)
- TP53 (17p13.1)
- TSC1 (9q34.13)
- TSC2 (16p13.3)
- TSHR (14q31.1)
- TYR (11q14.3)
- VHL (3p25.3)
- WRN (8p12)
- WT1 (11p13)
- XPA (9q22.33)
- XPC (3p25.1)
- XRCC2 (7q36.1)
- XRCC3 (14q32.33)
Conditions
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Total conditions: 1726
| Condition/Phenotype | Identifier |
|---|
Methodology
Total methods: 0
Method Category
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Test method
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Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.