Microcephaly 13, primary, autosomal recessive
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (6 available)
Molecular Genetics Tests
Genes See tests for all associated and related genes
Also known as: CENP-E, KIF10, MCPH13, PPP1R61, CENPE
Summary: centromere protein E
Clinical features
Help- Abnormality of head or neck
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- Finding: Finding
Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Prominent nose
- Abnormality of limbs
- Short foot
Short foot
- MedGen UID: 376415
- Concept ID: C1848673
- Finding: Finding
Abnormality of limbs
- Small hand
Small hand
- MedGen UID: 108279
- Concept ID: C0575802
- Finding: Finding
Abnormality of limbs
- Short foot
- Abnormality of the cardiovascular system
- Restrictive cardiomyopathy
Restrictive cardiomyopathy
- MedGen UID: 40111
- Concept ID: C0007196
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Restrictive cardiomyopathy
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the musculoskeletal system
- Metaphyseal sclerosis
Metaphyseal sclerosis
- MedGen UID: 765440
- Concept ID: C3552526
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Primary microcephaly
Primary microcephaly
- MedGen UID: 383046
- Concept ID: C2677180
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal sclerosis
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Partial agenesis of the corpus callosum
Partial agenesis of the corpus callosum
- MedGen UID: 98127
- Concept ID: C0431368
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Simplified gyral pattern
Simplified gyral pattern
- MedGen UID: 413664
- Concept ID: C2749675
- Finding: Finding
Abnormality of the nervous system
- Tonic seizure
Tonic seizure
- MedGen UID: 82855
- Concept ID: C0270844
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar hypoplasia
- Abnormality of the respiratory system
- Subglottic stenosis
Subglottic stenosis
- MedGen UID: 68668
- Concept ID: C0238441
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Subglottic stenosis
- Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Fetal growth restriction
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