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 (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.
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