KEGG DISEASE: Skeletal defects, genital hypoplasia, and mental retardation

DISEASE: Skeletal defects, genital hypoplasia, and mental retardation

エントリ

H00969

名称

Skeletal defects, genital hypoplasia, and mental retardation

概要

This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD24  主な特徴として骨格の異常を伴う症候群
    H00969  Skeletal defects, genital hypoplasia, and mental retardation

病因遺伝子

ZBTB16 [HSA:7704] [KO:K10055]

リンク

ICD-11:

LD24.Y

MeSH:

C567306

OMIM:

612447

文献

PMID:18611983

著者