Microcephaly 6, primary, autosomal recessive
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (46 available)
Clinical features
Help- Abnormality of head or neck
- Bifid nasal tip
Bifid nasal tip
- MedGen UID: 140870
- Concept ID: C0426428
- Finding: Finding
Abnormality of head or neck
- Bifid nasal tip
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- 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
- Intellectual disability, moderate
Intellectual disability, moderate
- MedGen UID: 7680
- Concept ID: C0026351
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Small cerebral cortex
Small cerebral cortex
- MedGen UID: 325187
- Concept ID: C1837503
- Finding: Finding
Abnormality of the nervous system
- Absent speech
- Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Microtia
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