At a Glance
Baraitser-Winter syndrome;
Abnormal facial shape;
Abnormal localization of kidney
more...
⨉
Baraitser-Winter syndrome
Abnormal facial shape
Abnormal localization of kidney
Abnormal nasal morphology
Abnormal pericardium morphology
Abnormal pyramidal signs
Abnormality of dental morphology
Abnormality of female external genitalia
Abnormality of retinal pigmentation
Abnormality of the corpus callosum
Abnormality of the foot
Abnormality of the genital system
Abnormality of the mitral valve
Abnormality of the palate
Abnormality of the pinna
Abnormality of the pleura
Abnormality of the upper urinary tract
Abnormality of the vitreous humor
Abnormality of the voice
Abnormality of visual evoked potentials
Absent speech
Achondroplasia
Acrocallosal syndrome, Schinzel type
Agenesis of corpus callosum
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Aniridia 1
Anteverted nares
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the corpus callosum
Arteriovenous malformation
Arthrogryposis multiplex congenita
Ascites
Ataxia
Atresia of the external auditory canal
Autosomal dominant inheritance
Baraitser-Winter Syndrome 2
Benign neoplasm of the central nervous system
Bifid scrotum
Bladder cancer, somatic
Blepharophimosis
Brachycephaly
Brain small vessel disease with hemorrhage
Broad forehead
CHARGE association
Camptodactyly
Camptodactyly of finger
Camptodactyly, tall stature, and hearing loss syndrome
Carcinoma of cervix
Carcinoma of colon
Cardiac valvular dysplasia, X-linked
Cardiomyopathy
Carnitine palmitoyltransferase II deficiency, infantile
Carnitine palmitoyltransferase II deficiency, lethal neonatal
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Cataract
Cerebellar atrophy
Cerebral cortical atrophy
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebral hypomyelination
Charcot-Marie-Tooth disease, axonal, type 2O
Child syndrome
Choreoathetosis
Chorioretinal abnormality
Chorioretinal coloboma
Chudley-McCullough syndrome
Cleft palate
Clinodactyly
Cognitive impairment
Coloboma of optic disc
Conductive hearing impairment
Congenital cataract
Congenital cerebellar hypoplasia
Congenital disorder of glycosylation type 1Q
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Congenital muscular dystrophy
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4
Congenital ocular coloboma
Corpus callosum, partial agenesis of, X-linked
Cortical dysplasia
Cortical dysplasia, complex, with other brain malformations
Cortical dysplasia, complex, with other brain malformations 1
Cortical gyral simplification
Cortical malformations, occipital
Cowden syndrome 5
Craniosynostosis 1
Crouzon syndrome with acanthosis nigricans
Cryptorchidism
Cutaneous finger syndactyly
Cutis laxa with osteodystrophy
Dandy-Walker syndrome
Deafness, autosomal dominant 20
Decreased antibody level in blood
Decreased fetal movement
Decreased muscle mass
Decreased testicular size
Deeply set eye
Delayed eruption of teeth
Delayed myelination
Delayed speech and language development
Dental malocclusion
Depressed nasal bridge
Difficulty climbing stairs
Dilated cardiomyopathy 1X
Downturned corners of mouth
Dysarthria
Dysequilibrium syndrome
Dysphagia
Dysphonia
Dystonia
EEG abnormality
EMG abnormality
Elevated serum creatine phosphokinase
Encephalocele
Encephalopathy
Encephalopathy, acute, infection-induced, 4, susceptibility to
Epicanthus
Epidermal nevus
Epileptic encephalopathy, early infantile, 1
Erysipelas
Esotropia
Exercise intolerance
External ear malformation
FG syndrome
FG syndrome 2
Familial cancer of breast
Familial porencephaly
Feeding difficulties
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Finger syndactyly
Flat face
Flexion contracture
Foveal hypoplasia and presenile cataract syndrome
Frontometaphyseal dysplasia
Frontoparietal polymicrogyria
Fukuyama congenital muscular dystrophy
Fumarase deficiency
Gait ataxia
Gait disturbance
Generalized dystonia
Gillespie syndrome
Gingival overgrowth
Glaucoma
Global developmental delay
Gowers sign
Growth delay
Hearing impairment
Hemiplegia/hemiparesis
Hemorrhage, intracerebral, susceptibility to
Hennekam lymphangiectasia-lymphedema syndrome
Hepatocellular carcinoma
Hereditary disease
Heterotopia
Heterotopia, periventricular, autosomal recessive
High forehead
High palate
Highly arched eyebrow
Hirsutism
Holoprosencephaly sequence
Hydrocephalus
Hydrolethalus syndrome 2
Hydrops fetalis
Hypertelorism
Hypertonia
Hypertrichosis
Hypocalcemia
Hypochondroplasia
Hypoplasia of penis
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypoplasia of the maxilla
Hypoplasia of the pons
Hyporeflexia
Hypospadias
Hypsarrhythmia
Increased number of teeth
Intellectual disability
Intellectual disability, mild
Intellectual disability, moderate
Intellectual disability, severe
Intestinal lymphangiectasis
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Intrauterine growth restriction
Irido-corneo-trabecular dysgenesis
Iris coloboma
Irregular dentition
Joint laxity
Joubert syndrome 10
Juvenile-onset dystonia
Kahrizi syndrome
Kallmann syndrome 5
Keratitis, hereditary
Keratosis, seborrheic
Knobloch syndrome 1
Kyphosis
Large eyes
Leukodystrophy
Levy-Hollister syndrome
Limb dystonia
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Limitation of joint mobility
Lissencephaly
Lissencephaly 1
Lissencephaly 2
Lissencephaly 2, X-linked
Lissencephaly 3
Lissencephaly 4
Lissencephaly, X-linked
Long eyelashes
Long palpebral fissure
Low anterior hairline
Low-set, posteriorly rotated ears
Lung cancer
Lymphadenopathy
Lymphangioma
Lymphedema
Lymphopenia
Macrocephalus
Macrotia
Malabsorption
Malar flattening
Malignant tumor of testis
Martsolf syndrome
Megalencephaly
Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Melnick-Needles syndrome
Meningocele
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Mental retardation, autosomal dominant 13
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Mental retardation, with or without seizures, ARX-related, X-linked
Merosin deficient congenital muscular dystrophy
Microcephaly, epilepsy, and diabetes syndrome
Microcephaly, short stature, and polymicrogyria with or without seizures
Microcornea
Micrognathia
Microhydranencephaly
Micropenis
Microphthalmia
Microtia
Mild short stature
Motor delay
Muenke syndrome
Muscle eye brain disease
Muscle weakness
Muscular Diseases
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular hypotonia
Muscular hypotonia of the trunk
Myopathic facies
Myopia
NSDHL-Related Disorders
Narrow chest
Narrow face
Narrow forehead
Narrow mouth
Neonatal hypotonia
Neoplasm of ovary
Neoplasm of stomach
Neurological speech impairment
Non-midline cleft lip
Nonsyndromic microcephaly
Nystagmus
Ohdo syndrome, X-linked
Oligohydramnios
Opacification of the corneal stroma
Optic atrophy
Optic nerve hypoplasia, bilateral
Oral-facial-digital syndrome
Osteopenia
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Pachygyria
Partington X-linked mental retardation syndrome
Pena-Shokeir syndrome type I
Pericardial lymphangiectasia
Peripheral neuropathy
Periventricular gray matter heterotopia
Periventricular nodular heterotopia
Periventricular nodular heterotopia 1
Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Polymicrogyria
Polymicrogyria with optic nerve hypoplasia
Polymicrogyria, asymmetric
Polymicrogyria, bilateral frontoparietal
Polymicrogyria, bilateral perisylvian, autosomal recessive
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia, type 1b
Pontoneocerebellar hypoplasia
Poor eye contact
Poor head control
Poor speech
Porencephaly 2
Postaxial hand polydactyly
Postnatal microcephaly
Primary autosomal recessive microcephaly 2
Primary autosomal recessive microcephaly 5
Prolonged QT interval
Prominent forehead
Proptosis
Proud Levine Carpenter syndrome
Ptosis
Pulmonary lymphangiectasia
Pyloric stenosis
Recurrent respiratory infections
Reduced number of teeth
Reduced tendon reflexes
Reduced visual acuity
Renal cyst
Renal dysplasia
Renal hypoplasia
Renpenning syndrome 1
Respiratory insufficiency
Respiratory insufficiency due to muscle weakness
Retinal degeneration
Retinal detachment
Retinal dysplasia
Retinitis Pigmentosa 23
Rhizomelic chondrodysplasia punctata type 1
Rigidity
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
SCHIZENCEPHALY
Sacral dimple
Scoliosis
Scoliosis, idiopathic 3
Scrotal hypoplasia
Seizures
Sensorineural hearing loss
Severe muscular hypotonia
Short 4th metacarpal
Short clavicles
Short fourth metatarsal
Short nose
Short palpebral fissure
Short philtrum
Simpson-Golabi-Behmel syndrome, type 2
Skeletal dysplasia
Skeletal muscle atrophy
Spastic paraplegia 1
Spastic tetraplegia
Spasticity
Specific learning disability
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
Splenomegaly
Sunken cheeks
Susceptibility to strabismus
Syndromic X-linked mental retardation, Cabezas type
Talipes equinovarus
Telecanthus
Tented upper lip vermilion
Terminal osseous dysplasia
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Thin upper lip vermilion
Torsion dystonia
Torticollis
Tremor
Underdeveloped nasal alae
Van Maldergem syndrome 1
Ventricular septal defect
Visual impairment
Walker-Warburg congenital muscular dystrophy
Warburg micro syndrome
Warburg micro syndrome 1
Warburg micro syndrome 2
Warburg micro syndrome 3
Wide anterior fontanel
Wide cranial sutures
Wide nasal bridge
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Wrinkly skin syndrome
X-linked hydrocephalus syndrome
X-linked mental retardation with marfanoid habitus syndrome
progressive
ACTB (7p22.1);
ACTG1 (17q25.3);
ADGRG1 (16q21);
AKT3 (1q43-44);
ARFGEF2 (20q13.13)
more...
⨉
ACTB (7p22.1)
ACTG1 (17q25.3)
ADGRG1 (16q21)
AKT3 (1q43-44)
ARFGEF2 (20q13.13)
ARX (Xp21.3)
ASPM (1q31.3)
ATP6V0A2 (12q24.31)
B3GALNT2 (1q42.3)
B4GAT1 (11q13.2)
CASK (Xp11.4)
CCND2 (12p13.32)
CHD7 (8q12.2)
CLP1 (11q12.1)
COL18A1 (21q22.3)
COL4A1 (13q34)
COL4A2 (13q34)
CPT2 (1p32.3)
CRPPA (7p21.2-21.1)
CUL4B (Xq24)
DCX (Xq23)
DYNC1H1 (14q32.31)
EMX2 (10q26.11)
EOMES (3p24.1)
ERMARD (6q27)
EXOSC3 (9p13.2)
FAT4 (4q28.1)
FGFR3 (4p16.3)
FH (1q43)
FKRP (19q13.32)
FKTN (9q31.2)
FLNA (Xq28)
GMPPB (3p21.31)
GPSM2 (1p13.3)
IER3IP1 (18q21.1)
KIF1BP (10q22.1)
KIF2A (5q12.1)
KIF5C (2q23.1-23.2)
KIF7 (15q26.1)
L1CAM (Xq28)
LAMA2 (6q22.33)
LAMC3 (9q34.12)
LARGE1 (22q12.3)
MED12 (Xq13.1)
MEF2C (5q14.3)
NDE1 (16p13.11)
NSDHL (Xq28)
OCLN (5q13.2)
OFD1 (Xp22.2)
OPHN1 (Xq12)
PAFAH1B1 (17p13.3)
PAX6 (11p13)
PEX7 (6q23.3)
PIK3CA (3q26.32)
PIK3R2 (19p13.11)
POMGNT1 (1p34.1)
POMGNT2 (3p22.1)
POMK (8p11.21)
POMT1 (9q34.13)
POMT2 (14q24.3)
PQBP1 (Xp11.23)
RAB18 (10p12.1)
RAB3GAP1 (2q21.3)
RAB3GAP2 (1q41)
RELN (7q22.1)
RTTN (18q22.2)
RXYLT1 (12q14.2)
SEPSECS (4p15.2)
SNAP29 (22q11.21)
SRD5A3 (4q12)
SRPX2 (Xq22.1)
TBC1D20 (20p13)
TUBA1A (12q13.12)
TUBA8 (22q11.21)
TUBB2A (6p25.2)
TUBB2B (6p25.2)
TUBB3 (16q24.3)
TUBB4A (19p13.3)
TUBG1 (17q21.2)
VDAC1 (5q31.1)
VLDLR (9p24.2)
WDR62 (19q13.12)
Conditions
Help
Total conditions: 392
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
Help
Test method
Help
Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
