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  1. Genes and Genomic Entities
  2. ISCA-37501-Loss

ISCA-37501-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37501-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
  • Expert list
Phenotypes
  • Chromosome 17q23.1-q23.2 deletion syndrome, 613355
  • PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities
  • PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss

Green ISCA-37501-Loss Region in Common deletion and duplication syndromes


Version 0.137

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355
  • intellectual disability
  • microcephaly
  • congenital anomalies
  • pulmonary hypertension