Conditions / Genetic
primary autosomal recessive microcephaly 31
info · Genetic
A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that has_material_basis_in homozygous mutation in the CDK4 gene on chromosome 12q14.
Signs and symptoms
- Short stature
- Seizure
- Anemia
- Postnatal growth retardation
- Decreased testicular size
- Anti-thyroid peroxidase antibody positivity
- Secondary microcephaly
- Autoimmune hypoparathyroidism
- Celiac disease
- Shawl scrotum