HNRNPH1

heterogeneous nuclear ribonucleoprotein H1
OMIM: 601035
PanelMode of inheritanceDetails
2 panels
R-numbers: R57
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HNRNPH1-related neurodevelopmental disorder, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HNRNPH1ÔÇÉrelated syndromic intellectual disability, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083