Severe microcephalyGene: PCDH12
Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported.
Sources: Expert list
Created: 2 Sep 2020, 11:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
gene: PCDH12 was added gene: PCDH12 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683; 22822038; 30178464 Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Review for gene: PCDH12 was set to GREEN