Monogenic short stature
Gene: IHHEnsemblGeneIds (GRCh38): ENSG00000163501
EnsemblGeneIds (GRCh37): ENSG00000163501
OMIM: 600726, Gene2Phenotype
IHH is in 9 panels
1 review
Melissa Connolly (WMRGL GLH)
Gene included in a list of the ten most prevalent genetic causes of isolated short stature in the International guideline on genetic testing of children with Short stature (Supplementary information 4). Text references reports of patients with isolated short stature with or without skeletal findings.
Sources: Expert ReviewCreated: 17 Sep 2026, 1:41 p.m. | Last Modified: 17 Sep 2026, 5:32 p.m.
Panel Version: 2.9
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1
Publications
- PMID: 41543979
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- ACROCAPITOFEMORAL DYSPLASIA
- BRACHYDACTYLY, TYPE A1
- OMIM
- 600726
- Clinvar variants
- Variants in IHH
- Penetrance
- Complete
- Publications
-
- PMID: 41543979
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Melissa Connolly (WMRGL GLH)gene: IHH was added gene: IHH was added to Monogenic short stature. Sources: Expert Review Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IHH were set to PMID: 41543979 Phenotypes for gene: IHH were set to ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1 Penetrance for gene: IHH were set to Complete Review for gene: IHH was set to GREEN