At a Glance
Autosomal dominant inheritance;
2-3 finger syndactyly;
Abdominal pain
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Autosomal dominant inheritance
2-3 finger syndactyly
Abdominal pain
Abnormal anterior chamber morphology
Abnormal aortic morphology
Abnormal facial shape
Abnormal form of the vertebral bodies
Abnormal localization of kidney
Abnormal lung lobation
Abnormal macular morphology
Abnormal mitochondria in muscle tissue
Abnormal pattern of respiration
Abnormal pericardium morphology
Abnormal pupil morphology
Abnormal pyramidal signs
Abnormal vertebral morphology
Abnormality of abdomen morphology
Abnormality of bone marrow cell morphology
Abnormality of coagulation
Abnormality of dental enamel
Abnormality of female internal genitalia
Abnormality of metabolism/homeostasis
Abnormality of mitochondrial metabolism
Abnormality of movement
Abnormality of neuronal migration
Abnormality of neutrophils
Abnormality of periauricular region
Abnormality of retinal pigmentation
Abnormality of temperature regulation
Abnormality of the adrenal glands
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 eye
Abnormality of the eyelashes
Abnormality of the fingernails
Abnormality of the hair
Abnormality of the head
Abnormality of the helix
Abnormality of the hip bone
Abnormality of the intervertebral disk
Abnormality of the kidney
Abnormality of the liver
Abnormality of the lymphatic system
Abnormality of the metacarpal bones
Abnormality of the musculature
Abnormality of the palate
Abnormality of the pancreas
Abnormality of the parathyroid gland
Abnormality of the penis
Abnormality of the peritoneum
Abnormality of the philtrum
Abnormality of the pleura
Abnormality of the pulmonary artery
Abnormality of the respiratory system
Abnormality of the retinal vasculature
Abnormality of the ribs
Abnormality of the skin
Abnormality of the spleen
Abnormality of the testis
Abnormality of the tongue
Abnormality of the upper urinary tract
Abnormality of the ureter
Abnormality of the vagina
Abnormality of the voice
Abnormality of thrombocytes
Abnormality of thumb phalanx
Abnormality of urine catecholamine concentration
Abnormally prominent line of Schwalbe
Absent thumb
Acanthosis nigricans
Accelerated skeletal maturation
Achromatic retinal patches
Acute leukemia
Adenocarcinoma
Adenoma sebaceum
Adrenal hypoplasia
Adrenal pheochromocytoma
Adrenocortical carcinoma
Adrenocortical carcinoma, pediatric
Adrenocortical cytomegaly
Aganglionic megacolon
Agenesis of corpus callosum
Agnosia
Albinism
Amaurosis fugax
Ambiguous genitalia
Ambiguous genitalia, female
Ambiguous genitalia, male
Amblyopia
Aminoaciduria
Anemia
Angioid streaks of the retina
Angiokeratoma
Anonychia
Anterior creases of earlobe
Anteverted nares
Aortic dilatation
Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the lungs
Aplastic/hypoplastic toenail
Apnea
Aqueductal stenosis
Arrhythmia
Arterial thrombosis
Arteriovenous malformation
Arthritis
Ascites
Astrocytoma
Astrocytosis
Asymmetric growth
Ataxia
Atelectasis
Atrial septal defect
Attention deficit hyperactivity disorder
Atypical nevi in non-sun exposed areas
Atypical nevus
Autism spectrum disorder
Axillary freckling
Babinski sign
Bannayan-Riley-Ruvalcaba syndrome
Basal cell carcinoma
Beckwith-Wiedemann syndrome
Behavioral abnormality
Benign gastrointestinal tract tumors
Benign genitourinary tract neoplasm
Benign neoplasm of the central nervous system
Bilateral sensorineural hearing impairment
Biliary tract neoplasm
Biparietal narrowing
Birt-Hogg-Dub syndrome
Birth length greater than 97th percentile
Bladder cancer, somatic
Blue irides
Bone cyst
Brachydactyly
Breast adenocarcinoma
Breast carcinoma
Broad alveolar ridges
Broad foot
Broad forehead
Broad palm
Broad secondary alveolar ridge
Broad thumb
Broad toe
Bronchogenic cyst
CNS demyelination
Cafe-au-lait spot
Camptodactyly of finger
Carcinoid tumor of intestine
Carcinoma of cervix
Carcinoma of colon
Carcinoma of pancreas
Cardiac rhabdomyoma
Cardiomegaly
Cardiomyopathy
Carney triad
Cataract
Cavernous hemangioma
Cerebellar hemangioblastoma
Cerebellar vermis hypoplasia
Cerebral atrophy
Cerebral calcification
Cerebral hemorrhage
Cerebral ischemia
Cerebral palsy
Cervical rib
Chemodectoma
Chest pain
Childhood hepatocellular carcinoma
Cholestasis
Chordoma
Choroid plexus carcinoma
Choroid plexus cyst
Choroid plexus papilloma
Cleft palate
Cleft upper lip
Clinodactyly of the 5th finger
Coarse facial features
Coffin-Siris syndrome 1
Cognitive impairment
Colon cancer
Colonic diverticula
Colorectal / endometrial cancer
Colorectal cancer
Communicating hydrocephalus
Conductive hearing impairment
Congenital cataract
Congenital cerebellar hypoplasia
Congenital diaphragmatic hernia
Congenital hydrocephalus 1
Congenital omphalocele
Congenital sensorineural hearing impairment
Congestive heart failure
Conjunctival hamartoma
Constipation
Coronary artery disease
Cortical dysplasia
Cortical tubers
Cowden syndrome
Cranial nerve paralysis
Cryptorchidism
Cutaneous leiomyoma
Cutaneous leiomyosarcoma
Cutaneous melanoma
Cutis laxa
Cutis marmorata
Dandy-Walker syndrome
Decreased activity of mitochondrial complex II
Decreased body weight
Decreased fumarate hydratase activity
Decreased subcutaneous fat
Deeply set eye
Delayed eruption of permanent teeth
Delayed gross motor development
Delayed skeletal maturation
Delayed speech and language development
Dental enamel pits
Dental malocclusion
Depressed nasal bridge
Depressed nasal ridge
Developmental regression
Diaphoresis (with pheochromocytoma)
Diarrhea
Diastasis recti
Diffuse mesangial sclerosis
Dilatation
Dilated cardiomyopathy
Displacement of the external urethral meatus
Distal ileal atresia
Dolichocephaly
Downslanted palpebral fissures
Drash syndrome
Duodenal adenocarcinoma
Duplication of renal pelvis
Dysarthria
Dyskeratosis congenita
Dysphagia
Dystonia
EEG abnormality
EMG abnormality
Edema
Elbow dislocation
Elevated circulating catecholamine level
Elevated urinary norepinephrine
Embryonal rhabdomyosarcoma
Emotional lability
Emphysema
Endometrial carcinoma
Enlarged kidney
Ependymoma
Epibulbar dermoid
Epicanthus
Epididymal cyst
Epiphyseal dysplasia
Episodic hypertension
Episodic paroxysmal anxiety
Erythrocytosis
Esophageal neoplasm
Euthyroid multinodular goiter
Everted lower lip vermilion
Exercise intolerance
Exocrine pancreatic insufficiency
Exostoses
Extraadrenal pheochromocytoma
Failure to thrive
Familial cancer of breast
Familial colorectal cancer
Fatal infantile mitochondrial cardiomyopathy
Fatigue
Feeding difficulties
Feeding difficulties in infancy
Female pseudohermaphroditism
Fibroadenoma of the breast
Fibrofolliculoma
Finger syndactyly
Flared iliac wings
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 polydactyly
Frasier syndrome
Frontal bossing
Fumarase deficiency
Furrowed tongue
Gait disturbance
Gastrointestinal hemorrhage
Gastrointestinal stroma tumor
Generalized hypopigmentation
Genu recurvatum
Giant melanosomes in melanocytes
Gingival fibromatosis
Gingival overgrowth
Gingivitis
Glaucoma
Glioblastoma
Glioma
Gliosis
Global developmental delay
Glomerulopathy
Glomus jugular tumor
Glomus tympanicum paraganglioma
Goiter
Gonadal dysgenesis
Gonadal tissue inappropriate for external genitalia or chromosomal sex
Gonadoblastoma
Growth hormone deficiency
Gynecomastia
Hallucinations
Hamartoma
Hamartomatous polyposis
Hashimoto thyroiditis
Headache
Hearing abnormality
Hearing impairment
Hemangioma
Hematochezia
Hematologic neoplasm
Hematuria
Hemihypertrophy
Hemiparesis
Hemiplegia/hemiparesis
Hemoptysis
Hepatic failure
Hepatoblastoma
Hepatocellular carcinoma
Hepatocellular necrosis
Hepatomegaly
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal carcinoma
Hereditary palmoplantar keratoderma
Hernia of the abdominal wall
Heterochromia iridis
High forehead
High palate
Hirsutism
Hoarse voice (caused by tumor impingement)
Hurthle cell thyroid adenoma
Hydrocele testis
Hypercalcemia
Hypercalciuria
Hyperhidrosis
Hyperinsulinemia
Hypermelanotic macule
Hypermetropia
Hyperostosis
Hyperparathyroidism
Hyperpigmentation of the skin
Hyperreflexia
Hypertelorism
Hypertension
Hypertension associated with pheochromocytoma
Hypertensive crisis
Hypertensive retinopathy
Hyperthyroidism
Hypertonia
Hypertrichosis
Hypertrophic cardiomyopathy
Hypoglycemia
Hypomelanotic macule
Hypopigmentation of hair
Hypopigmentation of the fundus
Hypopigmentation of the skin
Hypopigmented skin patches
Hypoplasia of penis
Hypoplasia of the abdominal wall musculature
Hypoplasia of the brainstem
Hypoplasia of the fovea
Hypoplasia of the maxilla
Hypoplastic iris stroma
Hypoplastic left heart syndrome
Hypospadias
Hypotension
Hypothyroidism
Imperforate anus
Incoordination
Increased CSF lactate
Increased hematocrit
Increased hemoglobin
Increased intracranial pressure
Increased intramyocellular lipid droplets
Increased red blood cell mass
Increased serum lactate
Infantile spasms
Inguinal hernia
Intellectual disability
Intellectual disability, mild
Intellectual disability, profound
Intellectual functioning disability
Intention tremor
Interrupted aortic arch
Intestinal carcinoid
Intestinal malrotation
Intestinal obstruction
Intestinal polyposis
Intracranial hemorrhage
Intractable diarrhea
Intraocular melanoma
Intrauterine growth restriction
Intussusception
Iris coloboma
Irregular hyperpigmentation
Joint hypermobility
Juvenile onset
Kyphosis
Lacrimation abnormality
Lactic acidosis
Large fontanelles
Large for gestational age
Large hands
Laryngeal carcinoma
Leukemia
Leukoencephalopathy
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Li-Fraumeni-like syndrome
Limitation of joint mobility
Lipoatrophy
Lipoma
Long eyelashes
Long penis
Long philtrum
Long upper lip
Loss of voice
Low-set ears
Low-set, posteriorly rotated ears
Lower limb asymmetry
Lung adenocarcinoma
Lung segmentation defects
Lymphadenopathy
Lymphangioma
Lymphangiomyomatosis
Lymphedema
Lymphoedema
Lymphoma
Lynch syndrome
Macrocephalus
Macrocephaly/autism syndrome
Macrodactyly
Macrodactyly of finger
Macroglossia
Macrotia
Malabsorption
Malar flattening
Male pseudohermaphroditism
Malformation of the heart and great vessels
Malignant genitourinary tract tumor
Malignant melanoma of skin
Malignant tumor of prostate
Mandibular prognathia
Meacham syndrome
Meckel diverticulum
Mediastinal lymphadenopathy
Medulloblastoma
Melanocytic nevus
Melanoma
Memory impairment
Meningioma
Merkel cell skin cancer
Mesothelioma
Mesothelioma, malignant
Metabolic acidosis
Microcephaly
Micrognathia
Micromelia
Micronodular cirrhosis
Micropenis
Migraine
Mitochondrial complex II deficiency
Mucosal telangiectasiae
Multicystic kidney dysplasia
Multinodular goiter
Multiple congenital anomalies
Multiple cutaneous leiomyomas
Multiple fibrofolliculomas
Multiple lentigines
Multiple lipomas
Multiple renal cysts
Muscle weakness
Muscular Diseases
Muscular hypotonia
Myelodysplasia
Myoclonus
Myopia
Narrow mouth
Narrow sacroiliac notch
Nasopharyngeal carcinoma
Nausea and vomiting
Neonatal hypoglycemia
Neonatal hypotonia
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 breast
Neoplasm of the colon
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 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
Nephrogenic rest
Nephrolithiasis
Nephropathy
Nephrotic syndrome
Neuroblastoma
Neuroendocrine neoplasm
Neurofibromas
Neurological speech impairment
Non-Hodgkin lymphoma
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
Numerous nevi
Nystagmus
Obesity
Ocular albinism
Open mouth
Open operculum
Ophthalmoparesis
Ophthalmoplegia
Optic atrophy
Optic nerve dysplasia
Optic nerve glioma
Osteosarcoma
Ovarian cancer
Ovarian cyst
Ovarian gonadoblastoma
Overgrowth
Overgrowth of external genitalia
PTEN hamartoma tumor syndrome
Pallor
Palmoplantar keratoderma
Palpitations
Palpitations (with pheochromocytoma)
Pancreatic adenocarcinoma
Pancreatic cysts
Pancreatic hyperplasia
Pancreatic islet-cell hyperplasia
Papillary cystadenoma of the epididymis
Papillary renal cell carcinoma
Papillary thyroid carcinoma
Paraganglioma
Paraganglioma and gastric stromal sarcoma
Paraganglioma-related cranial nerve palsy
Parathyroid adenoma
Parathyroid carcinoma
Paresthesia
Partial albinism
Patellar aplasia
Patent ductus arteriosus 1
Pectus excavatum
Peripheral thrombosis
Pheochromocytoma
Photophobia
Plethora
Pleuropulmonary blastoma
Pneumothorax, primary spontaneous
Polycystic kidney dysplasia
Polycystic ovaries
Polycythemia
Polyhydramnios
Polymicrogyria
Polysplenia
Positive regitine blocking test
Postaxial hand polydactyly
Postnatal macrocephaly
Preauricular pit
Preauricular skin tag
Precocious puberty
Premature chromatid separation
Premature graying of hair
Primary adrenal insufficiency
Primary amenorrhea
Primary hyperparathyroidism
Progressive leukoencephalopathy
Progressive macrocephaly
Projection of scalp hair onto lateral cheek
Prominent forehead
Prominent occiput
Proptosis
Prostate neoplasm
Proteinuria
Proteus syndrome
Proteus-like syndrome
Pruritus
Pseudopapilledema
Ptosis
Pulmonary capillary hemangiomatosis
Pulmonary infiltrates
Pulmonary lymphangiomyomatosis
Pulmonic stenosis
Pulsatile tinnitus (tympanic paraganglioma)
Pyle metaphyseal dysplasia
Ragged-red muscle fibers
Recurrent fractures
Recurrent pancreatitis
Recurrent paroxysmal headache
Recurrent respiratory infections
Recurrent urinary tract infections
Reduced bone mineral density
Reduced visual acuity
Relative macrocephaly
Renal angiomyolipoma
Renal artery stenosis
Renal cell carcinoma, papillary, 1
Renal cortical adenoma
Renal cyst
Renal hamartoma
Renal hamartomas nephroblastomatosis and fetal gigantism
Renal hypoplasia
Renal hypoplasia/aplasia
Renal insufficiency
Renal neoplasm
Respiratory failure
Respiratory insufficiency
Restrictive ventilatory defect
Retinal capillary hemangioma
Retinal detachment
Retinal hamartoma
Retinitis pigmentosa
Retinoblastoma
Rhabdomyosarcoma
Round face
Russell-Silver syndrome
Salivary gland neoplasm
Sarcoma
Scoliosis
Sebaceous gland carcinoma
Seizures
Sensorineural hearing loss
Shagreen patch
Short distal phalanx of finger
Short foot
Short neck
Short nose
Short palm
Short philtrum
Short sacroiliac notch
Short stature
Short toe
Simpson-Golabi-Behmel syndrome
Single transverse palmar crease
Situs inversus totalis
Six lumbar vertebrae
Skeletal dysplasia
Skin rash
Skin tags
Sleep disturbance
Slow-growing hair
Small for gestational age
Small nail
Soft tissue sarcoma
Sparse hair
Sparse scalp hair
Spasticity
Specific learning disability
Spina bifida occulta
Spinal hemangioblastoma
Splenomegaly
Spontaneous pneumothorax
Squamous cell carcinoma
Squamous cell carcinoma of the head and neck
Stage 5 chronic kidney disease
Status epilepticus
Stillbirth
Strabismus
Stress/infection-induced lactic acidosis
Stroke
Subacute progressive viral hepatitis
Subcutaneous lipoma
Subcutaneous nodule
Subependymal nodules
Submucous cleft lip
Subungual fibromas
Supernumerary nipple
Synophrys
Tachycardia
Tachycardia (with pheochromocytoma)
Talipes
Talipes equinovarus
Tall stature
Telangiectasia of the skin
Telecanthus
Tented upper lip vermilion
Testicular neoplasm
Tetralogy of Fallot
Thick corpus callosum
Thick eyebrow
Thick lower lip vermilion
Thickened helices
Thrombophlebitis
Thymus hyperplasia
Thyroid adenoma
Thyroid cancer
Thyroiditis
Tietz syndrome
Tinnitus
Toe syndactyly
Total anomalous pulmonary venous return
Transitional cell carcinoma of the bladder
Transposition of the great arteries
True hermaphroditism
Tuberous sclerosis syndrome
Tumor susceptibility linked to germline BAP1 mutations
Turcot syndrome
Two carpal ossification centers present at birth
Umbilical hernia
Underdeveloped nasal alae
Ungual fibroma
Urinary tract neoplasm
Urogenital fistula
Urticaria
Uterine leiomyoma
Uterine leiomyosarcoma
VACTERL association with hydrocephalus
Vagal paraganglioma
Vaginal neoplasm
Varicocele
Varicose veins
Vater association with macrocephaly and ventriculomegaly
Venous insufficiency
Ventricular septal defect
Verrucae
Vertebral segmentation defect
Vertigo
Vestibular hypofunction
Villous atrophy
Visceral angiomatosis
Visceromegaly
Visual field defect
Visual impairment
Vocal cord paralysis (caused by tumor impingement)
Volvulus
Von Hippel-Lindau syndrome
Waardenburg syndrome
Webbed neck
Weight loss
White eyebrow
White eyelashes
White forelock
Wide mouth
Wide nasal bridge
Wilms tumor 1
Wolff-Parkinson-White syndrome
progressive
BAP1 (3p21.1);
CDC73 (1q31.2);
CDKN1C (11p15.4);
DICER1 (14q32.13);
DIS3L2 (2q37.1)
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BAP1 (3p21.1)
CDC73 (1q31.2)
CDKN1C (11p15.4)
DICER1 (14q32.13)
DIS3L2 (2q37.1)
EPCAM (2p21)
FH (1q43)
FLCN (17p11.2)
GPC3 (Xq26.2)
MET (7q31.2)
MITF (3p13)
MLH1 (3p22.2)
MSH2 (2p21-16.3)
MSH6 (2p16.3)
PMS2 (7p22.1)
PTEN (10q23.31)
SDHA (5p15.33)
SDHB (1p36.13)
SDHC (1q23.3)
SDHD (11q23.1)
SMARCA4 (19p13.2)
SMARCB1 (22q11.23)
TP53 (17p13.1)
TSC1 (9q34.13)
TSC2 (16p13.3)
VHL (3p25.3)
WT1 (11p13)
Conditions
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Total conditions: 766
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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* Instrument: Not provided
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