Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Cleft lip
Cleft lip
- MedGen UID: 1370297
- Concept ID: C4321245
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Deep philtrum
Deep philtrum
- MedGen UID: 374311
- Concept ID: C1839797
- Finding: Finding
Abnormality of head or neck
- Downturned corners of mouth
Downturned corners of mouth
- MedGen UID: 356471
- Concept ID: C1866195
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Horizontal eyebrow
Horizontal eyebrow
- MedGen UID: 478649
- Concept ID: C3277019
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Narrow palpebral fissure
Narrow palpebral fissure
- MedGen UID: 382506
- Concept ID: C2675021
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Bulbous nose
- Abnormality of limbs
- Overlapping toe
Overlapping toe
- MedGen UID: 182531
- Concept ID: C0920299
- Finding: Anatomical Abnormality
Abnormality of limbs
- Overlapping toe
- Abnormality of the cardiovascular system
- Abnormal heart morphology
Abnormal heart morphology
- MedGen UID: 6748
- Concept ID: C0018798
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormal heart morphology
- Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Retinal coloboma
Retinal coloboma
- MedGen UID: 761889
- Concept ID: C3540764
- 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 genitourinary system
- Renal dysplasia
Renal dysplasia
- MedGen UID: 760690
- Concept ID: C3536714
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal dysplasia
- Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microretrognathia
Microretrognathia
- MedGen UID: 326907
- Concept ID: C1839546
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Dolichocephaly
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- 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
- Inability to walk
Inability to walk
- MedGen UID: 107860
- Concept ID: C0560046
- Finding: Finding
Abnormality of the nervous system
- Inferior cerebellar vermis hypoplasia
Inferior cerebellar vermis hypoplasia
- MedGen UID: 343328
- Concept ID: C1855350
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Severe global developmental delay
Severe global developmental delay
- MedGen UID: 332436
- Concept ID: C1837397
- Finding: Finding
Abnormality of the nervous system
- Absent speech
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Ear malformation
- Low-set ears
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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