Hamel cerebro-palato-cardiac syndrome

MedGen UID:: 1842506
•Concept ID:: C5681615
•: Disease or Syndrome

Synonym:	hamel cerebro-palato-cardiac syndrome
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019767
Orphanet:	ORPHA93946

Definition

An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHamel cerebro-palato-cardiac syndrome

Neurodevelopmental disorder
- Developmental disorder
  - Neurodevelopmental disorder
    - Developmental disorder
      - Mental Retardation
        Renpenning syndrome
        Hamel cerebro-palato-cardiac syndrome

MedGen

National Center for Biotechnology Information

Send to:

Hamel cerebro-palato-cardiac syndrome

Definition

Term Hierarchy

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity