MTSS1L

MTSS1L, I-BAR domain containing
OMIM: 616951, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MTSS1L in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086

Green MTSS1L in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086

Amber MTSS1L in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086

Green MTSS1L in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086

Green MTSS1L in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.21

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086