| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | 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 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | 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 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | 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 |