Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Low anterior hairline
Low anterior hairline
- MedGen UID: 331280
- Concept ID: C1842366
- Finding: Finding
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- 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
- Coarse facial features
- Abnormality of limbs
- 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly
- MedGen UID: 867262
- Concept ID: C4021622
- Finding: Anatomical Abnormality
Abnormality of limbs
- Brachymetatarsus 4
Brachymetatarsus 4
- MedGen UID: 396286
- Concept ID: C1862083
- Finding: Finding
Abnormality of limbs
- Short 3rd metacarpal
Short 3rd metacarpal
- MedGen UID: 338089
- Concept ID: C1850631
- Finding: Finding
Abnormality of limbs
- Short 3rd toe
Short 3rd toe
- MedGen UID: 867268
- Concept ID: C4021628
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short 4th metacarpal
Short 4th metacarpal
- MedGen UID: 327074
- Concept ID: C1840309
- Finding: Finding
Abnormality of limbs
- Short 5th metacarpal
Short 5th metacarpal
- MedGen UID: 348858
- Concept ID: C1861388
- Finding: Finding
Abnormality of limbs
- Short thumb
Short thumb
- MedGen UID: 98469
- Concept ID: C0431890
- Finding: Congenital Abnormality
Abnormality of limbs
- Split hand
Split hand
- MedGen UID: 397570
- Concept ID: C2699510
- Finding: Congenital Abnormality
Abnormality of limbs
- Tapered finger
Tapered finger
- MedGen UID: 98098
- Concept ID: C0426886
- Finding: Finding
Abnormality of limbs
- 2-4 toe cutaneous syndactyly
- Abnormality of the cardiovascular system
- Muscular ventricular septal defect
Muscular ventricular septal defect
- MedGen UID: 473253
- Concept ID: C0685707
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Muscular ventricular septal defect
- Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
- Abnormality of the integument
- Dry hair
Dry hair
- MedGen UID: 75809
- Concept ID: C0277960
- Finding: Finding
Abnormality of the integument
- Mongolian blue spot
Mongolian blue spot
- MedGen UID: 75591
- Concept ID: C0265985
- Finding: Neoplastic Process
Abnormality of the integument
- Preauricular skin tag
Preauricular skin tag
- MedGen UID: 395989
- Concept ID: C1860816
- Finding: Finding
Abnormality of the integument
- Dry hair
- Abnormality of the musculoskeletal system
- Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy
- MedGen UID: 351202
- Concept ID: C1864716
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Intrinsic hand muscle atrophy
- 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
- Bimanual synkinesia
Bimanual synkinesia
- MedGen UID: 473166
- Concept ID: C0454455
- Finding: Disease or Syndrome
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
- Dysplastic corpus callosum
Dysplastic corpus callosum
- MedGen UID: 98128
- Concept ID: C0431369
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Head-banging
Head-banging
- MedGen UID: 42337
- Concept ID: C0018672
- Finding: Mental or Behavioral Dysfunction
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
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Status epilepticus
Status epilepticus
- MedGen UID: 11586
- Concept ID: C0038220
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Autistic behavior
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