Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MICROPHTHALMIA, SYNDROMIC 6 607932, OROFACIAL CLEFT 11 600625 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MICROPHTHALMIA, SYNDROMIC 6, OROFACIAL CLEFT 11 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Microphthalmia, syndromic 6 607932, Global developmental delay |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Polydactyly, Microphthalmia, syndromic 6 607932 |
Green in Stickler syndromeR-numbers: R45 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Stickler syndrome, MONDO:0019354 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 3.79 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Orofacial cleft 11, 600625, Microphthalmia, syndromic 6, 607932, BMP4-Related Syndromic Microphthalmia |