FGF4:Ensemblv90

fibroblast growth factor 4
OMIM: 164980, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber FGF4 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.96

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260

Amber FGF4 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260

Amber FGF4 in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune Syndrome, FGF4-related, MONDO:0018770

Amber FGF4 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260