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Brain calcification, Rajab type
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
ORPHA:178506Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: -
- ICD-10: -
- OMIM: 613658
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
The syndrome has been described in eight children from two interrelated families.
Brain calcification, Rajab type is associated with a genetic locus on chromosome 2.
Transmission is autosomal recessive.