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2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
2-Methylacetoacetyl CoA Thiolase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
3-Hydroxyisobutyric Aciduria
5-Oxoprolinase Deficiency
adenylosuccinase lyase deficiency
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Aminoacylase 1 Deficiency
argininosuccinic aciduria
aromatic L-amino acid decarboxylase deficiency
Asparagine Synthetase Deficiency
autosomal recessive congenital ichthyosis +
Beta-Aminoisobutyric Acid, Urinary Excretion of
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
beta-ketothiolase deficiency
branched-chain keto acid dehydrogenase kinase deficiency
bullous congenital ichthyosiform erythroderma
Camptodactyly-Ichthyosis Syndrome
carboxypeptidase N deficiency
Cataract and Congenital Ichthyosis
cerebral creatine deficiency syndrome +
Congenital Ichthyosis with Trichothiodystrophy +
Deal Barratt Dillon Syndrome
dicarboxylic aminoaciduria
Dimethylglycine Dehydrogenase Deficiency
diphthamide deficiency syndrome +
Dykes Markes Harper Syndrome
epidermolytic hyperkeratosis +
GABA aminotransferase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glutamate Monosodium Sensitivity
glutamate-cysteine ligase deficiency
Glutamine Deficiency, Congenital
glutathione synthetase deficiency +
Glycinuria with or without Oxalate Urolithiasis
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
homocystinuria-megaloblastic anemia cblG type
Hyperleucine-Isoleucinemia
Hypertaurinuric Cardiomyopathy
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Prematurity Syndrome
Ichthyosis Tapered Fingers Midline Groove Up
Ichthyosis with Erythrokeratoderma
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Ichthyosis, Spastic Quadriplegia, and Mental Retardation
Ichthyosis, Split Hairs, and Amino Aciduria
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Indolylacroyl Glycinuria with Mental Retardation
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Isobutyryl-CoA Dehydrogenase Deficiency
isolated sulfite oxidase deficiency
Jagell Holmgren Hofer Syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
keratosis pilaris atrophicans +
Koone Rizzo Elias Syndrome
Lamellar Ichthyosis, Autosomal Dominant Form
leucine-sensitive hypoglycemia of infancy
Lysine Malabsorption Syndrome
lysinuric protein intolerance
Maleylacetoacetate Isomerase Deficiency
maple syrup urine disease +
Mercaptolactate-Cysteine Disulfiduria
Methionine Malabsorption Syndrome
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonyl-CoA Epimerase Deficiency +
mitochondrial DNA depletion syndrome 5
multiple acyl-CoA dehydrogenase deficiency +
multiple carboxylase deficiency +
Myopathy due to Malate-Aspartate Shuttle Defect
N-Acetylaspartate Deficiency
nuclear type mitochondrial complex I deficiency 20
Osteosclerosis with Ichthyosis and Fractures
oxoglutarate dehydrogenase deficiency
Ruzicka Goerz Anton syndrome
Sammartino De Crecchio Syndrome
Sjogren-Larsson syndrome +
succinic semialdehyde dehydrogenase deficiency
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
Trichodysplasia-Xeroderma
Tryptophanuria with Dwarfism
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
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