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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
Albinism + General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Aminoacylase 1 Deficiency
argininosuccinic aciduria
aromatic L-amino acid decarboxylase deficiency
arterial tortuosity syndrome
Asparagine Synthetase Deficiency
ataxia with oculomotor apraxia type 3
Ataxia-Microcephaly-Cataract Syndrome
ataxia-oculomotor apraxia type 4
Atrophia Maculosa Varioliformis Cutis, Familial
Autoinflammation with Arthritis and Dyskeratosis
autosomal recessive congenital ichthyosis +
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Beta-Aminoisobutyric Acid, Urinary Excretion of
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
beta-ketothiolase deficiency
Bloch-Sulzberger syndrome +
Bothnia retinal dystrophy
branched-chain keto acid dehydrogenase kinase deficiency
bullous congenital ichthyosiform erythroderma
Buschke-Ollendorff syndrome
carboxypeptidase N deficiency
cataract 17 multiple types
cataract 22 multiple types
Cavitary Optic Disc Anomalies
cerebral creatine deficiency syndrome +
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital fibrosis of the extraocular muscles 5
Cutaneous Bullous Amyloidosis
Defect in Hyaluronan Metabolism
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
Duane retraction syndrome +
dyschromatosis universalis hereditaria +
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
epidermolytic hyperkeratosis +
erythrokeratodermia variabilis +
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
exudative vitreoretinopathy +
familial benign fleck retina
Familial Reactive Perforating Collagenosis
Foveal Hypoplasia with Anterior Segment Anomalies
GABA aminotransferase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
geroderma osteodysplasticum
Glaucoma 1, Open Angle, P
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
Grouped Pigmentation of the Macula
Hereditary Autoinflammatory Diseases +
hereditary night blindness +
Hereditary Optic Atrophies +
hereditary retinal dystrophy +
Hereditary Sclerosing Poikiloderma +
Hernandez Fragoso Syndrome
histidine metabolism disease +
Histiocytic Dermatoarthritis
HMG-CoA synthase 2 deficiency
homocystinuria-megaloblastic anemia cblG type
hyaline fibromatosis syndrome
Hyperleucine-Isoleucinemia
Hypertaurinuric Cardiomyopathy
hypopigmentation of eyelid
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
Ichthyosis, Split Hairs, and Amino Aciduria
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Indolylacroyl Glycinuria with Mental Retardation
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Iris Pigment Epithelium Anomalies
Isobutyryl-CoA Dehydrogenase Deficiency
isolated sulfite oxidase deficiency
Juvenile Spring Eruption of Ears
Keratolytic Winter Erythema
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Leber congenital amaurosis +
leucine-sensitive hypoglycemia of infancy
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
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 +
Microcephaly and Chorioretinopathy +
mitochondrial DNA depletion syndrome 5
multiple acyl-CoA dehydrogenase deficiency +
multiple carboxylase deficiency +
Multiple Noduli Cutanei with Urinary Tract Abnormalities
Myopathy due to Malate-Aspartate Shuttle Defect
N-Acetylaspartate Deficiency
nuclear type mitochondrial complex I deficiency 20
Obesity and Hypopigmentation
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Ophthalmomandibulomelic Dysplasia
orofaciodigital syndrome IX
oxoglutarate dehydrogenase deficiency
Parana Hard Skin Syndrome
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts
Peripapillary Atrophy, Beta Type
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
pigmented paravenous chorioretinal atrophy
plasminogen deficiency type I
poikiloderma with neutropenia
PORETTI-BOLTSHAUSER SYNDROME
primary congenital glaucoma +
primary cutaneous amyloidosis +
progressive osseous heteroplasia
Progressive Vitiligo with Mental Retardation and Urethral Duplication
pseudoxanthoma elasticum +
Radial Drusen, Autosomal Dominant
Raindrop Hypopigmentation
renal hypomagnesemia 5 with ocular involvement
Retinal Dystrophy, Early Onset Severe +
Retinohepatoendocrinologic Syndrome
Rhegmatogenous Retinal Detachment, Autosomal Dominant
Rothmund-Thomson syndrome +
Sjogren-Larsson syndrome +
spinocerebellar ataxia type 34
Spondyloocular Syndrome, Autosomal Recessive
Stickler Syndrome, Type I, Nonsyndromic Ocular
succinic semialdehyde dehydrogenase deficiency
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
Tryptophanuria with Dwarfism
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
vitelliform macular dystrophy +
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vohwinkel Syndrome, Variant Form
Walker-Warburg syndrome +
Weill-Marchesani syndrome +
X-Linked Macular Dystrophy +
X-linked reticulate pigmentary disorder
Yemenite Deaf-Blind Hypopigmentation Syndrome
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