Microcephaly 17, primary, autosomal recessive
Summary
Available tests
Clinical tests (14 available)
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
- Low anterior hairline
Low anterior hairline
- MedGen UID: 331280
- Concept ID: C1842366
- Finding: Finding
Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Thick vermilion border
Thick vermilion border
- MedGen UID: 332232
- Concept ID: C1836543
- Finding: Finding
Abnormality of head or neck
- Bulbous nose
- Abnormality of the ear
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Abnormality of the ear
- Macrotia
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Renal agenesis
Renal agenesis
- MedGen UID: 154237
- Concept ID: C0542519
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal agenesis
- Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Primary microcephaly
Primary microcephaly
- MedGen UID: 383046
- Concept ID: C2677180
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Delayed early-childhood social milestone development
Delayed early-childhood social milestone development
- MedGen UID: 868509
- Concept ID: C4022906
- Finding: Finding
Abnormality of the nervous system
- Delayed fine motor development
Delayed fine motor development
- MedGen UID: 869257
- Concept ID: C4023681
- Finding: Finding
Abnormality of the nervous system
- Delayed gross motor development
Delayed gross motor development
- MedGen UID: 332508
- Concept ID: C1837658
- 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
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the brainstem
Hypoplasia of the brainstem
- MedGen UID: 334226
- Concept ID: C1842688
- 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
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Microlissencephaly
Microlissencephaly
- MedGen UID: 365439
- Concept ID: C1956147
- 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
- Simplified gyral pattern
Simplified gyral pattern
- MedGen UID: 413664
- Concept ID: C2749675
- Finding: Finding
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
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