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Wolf-Hirschhorn syndrome

Summary
Synonym
  • 4p deletion syndrome
  • PITT SYNDROME
  • Pitt-Rogers-Danks Syndrome
  • chromosome 4p16.3 deletion syndrome
Definition
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0050460
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
7468 NSD2 nuclear receptor binding SET domain protein 2
53834 FGFRL1 fibroblast growth factor receptor like 1
137994 LETM2 leucine zipper and EF-hand containing transmembrane protein 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
116701 Fgfrl1 fibroblast growth factor receptor-like 1
270035 Letm2 leucine zipper-EF-hand containing transmembrane protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
360903 Fgfrl1 fibroblast growth factor receptor-like 1
The Human Phenotype Ontology
Displaying entries 71 - 80 of 85 in total
HPO ID HPO Term
HP:0005264 Abnormality of the gallbladder
HP:0006655 Rib segmentation abnormalities
HP:0006703 Aplasia/Hypoplasia of the lungs
HP:0006709 Aplasia/Hypoplasia of the nipples
HP:0007360 Aplasia/Hypoplasia of the cerebellum
HP:0007385 Aplasia cutis congenita of scalp
HP:0008551 Microtia
HP:0008830 Hypoplastic pubic ramus
HP:0009778 Short thumb
HP:0009890 High anterior hairline
Displaying 1 entry
Gene ID Gene Symbol Description
54872 PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024