Conditions / Syndrome
alopecia-mental retardation syndrome 4
info ยท Syndrome
An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
Signs and symptoms
- Alopecia
- Intellectual disability
- Delayed speech and language development
- Seizure
- Delayed ability to walk
- Ichthyosis
- Autistic behavior
- Erythroderma
- Hypospadias
- Hypoplasia of the corpus callosum