Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microphthalmia, syndromic 15, OMIM:615145
- ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
- Microphthalmia, isolated, with coloboma 9, MONDO:0014059
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Microphthalmia, syndromic 15, OMIM:615145
- ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
- Microphthalmia, isolated, with coloboma 9, MONDO:0014059
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microphthalmia, syndromic 15, OMIM:615145
- ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
- Microphthalmia, isolated, with coloboma 9, MONDO:0014059
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Microphthalmia, syndromic 15, OMIM:615145
- ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
- Microphthalmia, isolated, with coloboma 9, MONDO:0014059
|
Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Microphthalmia, syndromic 15, OMIM:615145
- ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
- Microphthalmia, isolated, with coloboma 9, MONDO:0014059
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microphthalmia, syndromic 15, OMIM:615145
- ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
- Microphthalmia, isolated, with coloboma 9, MONDO:0014059
|