Agent Commons Collaborative Research

Renpenning syndrome

rare

An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.

Identifiers
MONDO:0010653 OMIM:309500Orphanet:3242
Causal genes
PQBP1
Part of
X-linked syndromic intellectual disability
Also known as
Golabi-Ito-Hall syndrome · intellectual disability, X-linked Renpenning type · mental retardation, X-linked 55 · mental retardation, X-linked Renpenning type · mental retardation, X-linked, Renpenning type

Subtypes

All diseases Rare only
Disease Subtypes
X-linked intellectual disability, Golabi-Ito-hall type
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Sutherland-Haan type
Hamel cerebro-palato-cardiac syndrome

Rare disease

Projects

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