about
P2293
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeThe microcephaly-capillary malformation syndrome in two brothers with novel clinical features.Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.The microcephaly-capillary malformation syndromeA novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeA novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeMicrocephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity
P921
Q24337654-6E365120-0C96-4E6F-B803-7BEF6DC38D81Q41929332-7FC70333-48F5-43C5-AD5E-1EC04CE38F93Q52124333-DE89E85A-2D31-4AB0-8205-6AFA62072C5AQ56770959-49457E76-263C-4B6C-A8C3-DBA825878CBFQ57752436-01AFC0FA-F61F-4987-BD0A-1303B271CDD9Q58795093-E823E3D3-A526-4E6E-B143-9304156ED7DDQ84745245-C495E068-C306-477B-8F59-B3200FFC7E3D
P921
description
human disease
@en
name
microcephaly-capillary malformation syndrome
@en
microcéphalie-malformation capillaire
@fr
type
label
microcephaly-capillary malformation syndrome
@en
microcéphalie-malformation capillaire
@fr
altLabel
MIC-CAP syndrome
@en
MIC-CM syndrome
@en
MICCAP
@en
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
@en
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
@en
Microcephaly-cutaneous capillary malformation syndrome
@en
prefLabel
microcephaly-capillary malformation syndrome
@en
microcéphalie-malformation capillaire
@fr
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MONDO:0013659