Microcephaly 1, primary, autosomal recessive
- Synonyms
- PCC SYNDROME; PREMATURE CHROMOSOME CONDENSATION SYNDROME; Premature chromosome condensation with microcephaly and mental retardation
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (36 available)
Clinical features
Help- Abnormal cellular phenotype
- Increased rate of premature chromosome condensation
Increased rate of premature chromosome condensation
- MedGen UID: 871142
- Concept ID: C4025613
- Finding: Cell or Molecular Dysfunction
Abnormal cellular phenotype
- Increased rate of premature chromosome condensation
- Abnormality of the musculoskeletal system
- Primary microcephaly
Primary microcephaly
- MedGen UID: 383046
- Concept ID: C2677180
- Finding: Finding
Abnormality of the musculoskeletal system
- Primary microcephaly
- 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
- 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
- Intellectual disability
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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