Severe microcephalyGene: DPM1
PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.
PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic
PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.
Sources: Expert list
Created: 4 Sep 2020, 10:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation, type Ie 608799
Variants in this GENE are reported as part of current diagnostic practice
gene: DPM1 was added gene: DPM1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM1 were set to 16641202; 10642602; 10642597 Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799 Review for gene: DPM1 was set to GREEN gene: DPM1 was marked as current diagnostic