|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Abnormality of vision
- Congenital cataract
- Iris coloboma
- Abnormal heart morphology
- Choanal atresia
- Abnormality of the ear
- Preauricular skin tag
- Hearing impairment
- Abnormality of the genitourinary system
- Abnormality of limbs
- Abnormality of the vertebrae
- Abnormality of nervous system morphology
- Seizures
Tags
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
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 Amber
- Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Abnormality of vision
- Congenital cataract
- Iris coloboma
- Abnormal heart morphology
- Choanal atresia
- Abnormality of the ear
- Preauricular skin tag
- Hearing impairment
- Abnormality of the genitourinary system
- Abnormality of limbs
- Abnormality of the vertebrae
- Abnormality of nervous system morphology
- Seizures
Tags
|