Neurodevelopmental disorder with visual defects and brain anomalies
Summary
Available tests
Clinical tests (13 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- Finding: Finding
Abnormality of head or neck
- Widely spaced teeth
Widely spaced teeth
- MedGen UID: 337093
- Concept ID: C1844813
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Limb hypertonia
Limb hypertonia
- MedGen UID: 333083
- Concept ID: C1838391
- Finding: Finding
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Limb hypertonia
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Astigmatism
- Abnormality of the integument
- Preauricular pit
Preauricular pit
- MedGen UID: 120587
- Concept ID: C0266610
- Finding: Congenital Abnormality
Abnormality of the integument
- Preauricular pit
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Flat occiput
Flat occiput
- MedGen UID: 332439
- Concept ID: C1837402
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Unilateral facial palsy
Unilateral facial palsy
- MedGen UID: 868325
- Concept ID: C4022719
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Bulbar palsy
Bulbar palsy
- MedGen UID: 898626
- Concept ID: C4082299
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Delayed ability to sit
Delayed ability to sit
- MedGen UID: 1368737
- Concept ID: C4476710
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Periventricular leukomalacia
Periventricular leukomalacia
- MedGen UID: 6072
- Concept ID: C0023529
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Torticollis
Torticollis
- MedGen UID: 11859
- Concept ID: C0040485
- Finding: Sign or Symptom
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Bulbar palsy
- Abnormality of the respiratory system
- Laryngotracheomalacia
Laryngotracheomalacia
- MedGen UID: 107947
- Concept ID: C0585984
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Respiratory tract infection
Respiratory tract infection
- MedGen UID: 11199
- Concept ID: C0035243
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Laryngotracheomalacia
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.