ISCA-37441-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37441-Loss Region in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
  • NHS GMS
Phenotypes
  • parietal foramina
  • mental retardation
  • intellectual disability
  • ophthalmologic anomalies
  • Potocki-Shaffer syndrome
  • myopia
  • biparietal foramina
  • enlarged anterior fontanel
  • minor craniofacial anomalies
  • genital abnormalities in males
  • developmental delay
  • multiple exostoses
  • strabismus
  • 601224

Green ISCA-37441-Loss Region in Common deletion and duplication syndromes


Version 0.137

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Potocki-Shaffer syndrome MIM#601224
  • intellectual disability
  • multiple exostoses
  • biparietal foramina