CTDSP2

CTD small phosphatase 2
OMIM: 608711, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CTDSP2 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.2

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniofacial microsomia, MONDO:0015397

Amber CTDSP2 in Mendeliome


Version 2.145

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniofacial microsomia, MONDO:0015397

Amber CTDSP2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.2

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniofacial microsomia, MONDO:0015397