autosomal recessive intellectual developmental disorder +
amino acid metabolic disorder +

2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase deficiency +
adenylosuccinase lyase deficiency
alkaptonuria
argininosuccinic aciduria
autosomal recessive intellectual developmental disorder 1
autosomal recessive intellectual developmental disorder 10/20
autosomal recessive intellectual developmental disorder 11
autosomal recessive intellectual developmental disorder 12
autosomal recessive intellectual developmental disorder 13
autosomal recessive intellectual developmental disorder 14
autosomal recessive intellectual developmental disorder 16
autosomal recessive intellectual developmental disorder 18
autosomal recessive intellectual developmental disorder 2
autosomal recessive intellectual developmental disorder 23
autosomal recessive intellectual developmental disorder 24
autosomal recessive intellectual developmental disorder 25
autosomal recessive intellectual developmental disorder 27
autosomal recessive intellectual developmental disorder 28
autosomal recessive intellectual developmental disorder 29
autosomal recessive intellectual developmental disorder 3
autosomal recessive intellectual developmental disorder 30
autosomal recessive intellectual developmental disorder 31
autosomal recessive intellectual developmental disorder 33
autosomal recessive intellectual developmental disorder 34
autosomal recessive intellectual developmental disorder 35
autosomal recessive intellectual developmental disorder 37
autosomal recessive intellectual developmental disorder 38
autosomal recessive intellectual developmental disorder 39
autosomal recessive intellectual developmental disorder 4
autosomal recessive intellectual developmental disorder 40
autosomal recessive intellectual developmental disorder 41
autosomal recessive intellectual developmental disorder 43
autosomal recessive intellectual developmental disorder 44
autosomal recessive intellectual developmental disorder 45
autosomal recessive intellectual developmental disorder 46
autosomal recessive intellectual developmental disorder 47
autosomal recessive intellectual developmental disorder 48
autosomal recessive intellectual developmental disorder 5
autosomal recessive intellectual developmental disorder 50
autosomal recessive intellectual developmental disorder 51
autosomal recessive intellectual developmental disorder 52
autosomal recessive intellectual developmental disorder 54
autosomal recessive intellectual developmental disorder 56
autosomal recessive intellectual developmental disorder 57
autosomal recessive intellectual developmental disorder 58
autosomal recessive intellectual developmental disorder 59
autosomal recessive intellectual developmental disorder 6
autosomal recessive intellectual developmental disorder 60
autosomal recessive intellectual developmental disorder 61
autosomal recessive intellectual developmental disorder 63
autosomal recessive intellectual developmental disorder 64
autosomal recessive intellectual developmental disorder 65
autosomal recessive intellectual developmental disorder 66
autosomal recessive intellectual developmental disorder 67
autosomal recessive intellectual developmental disorder 68
autosomal recessive intellectual developmental disorder 69
autosomal recessive intellectual developmental disorder 7
autosomal recessive intellectual developmental disorder 70
autosomal recessive intellectual developmental disorder 71
autosomal recessive intellectual developmental disorder 72
autosomal recessive intellectual developmental disorder 73
autosomal recessive intellectual developmental disorder 74
autosomal recessive intellectual developmental disorder 75
autosomal recessive intellectual developmental disorder 76
autosomal recessive intellectual developmental disorder 77
autosomal recessive intellectual developmental disorder 82
autosomal recessive intellectual developmental disorder 9/26
beta-ketothiolase deficiency
branched-chain keto acid dehydrogenase kinase deficiency
Brunner Syndrome
cerebral creatine deficiency syndrome +
congenital glutamine deficiency
cystathioninuria
cystinuria
developmental and epileptic encephalopathy 116
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
familial hypertryptophanemia
fumarase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
glycine encephalopathy +
glycosylphosphatidylinositol biosynthesis defect 16
Hartnup disease
hawkinsinuria
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
homocystinuria
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
hydroxykynureninuria
hyperhomocysteinemia
hyperlysinemia
hypermethioninemia +
hyperphosphatasia with impaired intellectual development syndrome +
hyperprolinemia +
hypervalinemia and hyperleucine-isoleucinemia
infantile hypotonia with psychomotor retardation and characteristic facies-3
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
leucine-sensitive hypoglycemia of infancy
lysinuric protein intolerance
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple carboxylase deficiency +
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
neurodevelopmental disorder with language delay and seizures
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
neurodevelopmental disorder with poor growth and behavioral abnormalities
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
neurodevelopmental disorder with spasticity and poor growth
organic acidemia +
ornithine translocase deficiency
oxoglutarate dehydrogenase deficiency
pentosuria
phenylketonuria
prolidase deficiency
Rafiq syndrome
sarcosinemia
serine deficiency +
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
tyrosinemia +
urea cycle disorder +