Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- ClinGen
Phenotypes
- mild/moderate mental retardation
- facial dysmorphism
- Hypotonia-cystinuria syndrome (HCS)
- 2p21 deletion syndrome
- rapid weight gain in late childhood
- failure to thrive
- growth hormone deficiency
- 606407
- lactic acidemia
- respiratory chain complex IV deficiency
- hyperphagia
- minor facial dysmorphism
- severe somatic and developmental delay
- nephrolithiasis
- cystinuria
- neonatal seizures
- hypotonia
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Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- hyperphagia
- lactic acidemia
- mild/moderate mental retardation
- Hypotonia-cystinuria syndrome (HCS)
- 606407
- failure to thrive
- nephrolithiasis
- rapid weight gain in late childhood
- minor facial dysmorphism
- growth hormone deficiency
- facial dysmorphism
- respiratory chain complex IV deficiency
- cystinuria
- neonatal seizures
- 2p21 deletion syndrome
- hypotonia
- severe somatic and developmental delay
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- mild/moderate mental retardation
- facial dysmorphism
- Hypotonia-cystinuria syndrome (HCS)
- 2p21 deletion syndrome
- rapid weight gain in late childhood
- failure to thrive
- growth hormone deficiency
- 606407
- lactic acidemia
- respiratory chain complex IV deficiency
- hyperphagia
- minor facial dysmorphism
- severe somatic and developmental delay
- nephrolithiasis
- cystinuria
- neonatal seizures
- hypotonia
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- mild/moderate mental retardation
- facial dysmorphism
- Hypotonia-cystinuria syndrome (HCS)
- 2p21 deletion syndrome
- rapid weight gain in late childhood
- failure to thrive
- growth hormone deficiency
- 606407
- lactic acidemia
- respiratory chain complex IV deficiency
- hyperphagia
- minor facial dysmorphism
- severe somatic and developmental delay
- nephrolithiasis
- cystinuria
- neonatal seizures
- hypotonia
|