MAB21L1

mab-21 like 1
OMIM: 601280, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MAB21L1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479

Green MAB21L1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar, ocular, craniofacial, and genital syndrome 618479

Green MAB21L1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar, ocular, craniofacial, and genital syndrome #MIM 618479

Green MAB21L1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479

Green MAB21L1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479