Treatable Intellectual Disability
an interactive tool for the clinician
Diseases
Signs & Symptoms
Diagnosis
Treatment
All
Alphabetically listed below are all 81 diseases with a direct link to the disease page
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A
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Aceruloplasminemia
(X-Linked) Adrenoleukodystrophy
AGAT Deficiency
α-Mannosidosis
l.o. Argininemia
l.o. Argininosuccinic Aciduria
Aspartylglucosaminuria
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B
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β-Ketothiolase Deficiency
Biotin Responsive Basal Ganglia Disease
Biotinidase Deficiency
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C
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Cerebral Folate Receptor-α Deficiency
Cerebrotendinous Xanthomatosis
l.o. Citrullinemia
Citrullinemia Type II
Co Enzyme Q10 Deficiency
Cobalamin A Deficiency
Cobalamin B Deficiency
Cobalamin C Deficiency
Cobalamin D Deficiency
Cobalamin E Deficiency
Cobalamin F Deficiency
Cobalamin G Deficiency
Congenital Intrinsic Factor Deficiency
l.o. CPS Deficiency
Creatine Transporter Defect
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D
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DHPR Deficiency (Biopterin Deficiency)
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E
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Ethylmalonic Encephalopathy
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G
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GAMT Deficiency
Gaucher Disease Type III
GLUT1 Deficiency Syndrome
l.o. Glutaric Acidemia I
Glutaric Acidemia II
GTPCH1 Deficiency (Biopterin Deficiency)
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H
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HHH Syndrome:
(Hyperornithinemia, Hyperammonemia, Homocitrullinuria)
HMG-CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria
Hunter Syndrome (MPS II)
Hurler Syndrome (MPS I)
Hyperinsulinism Hyperammonemia Syndrome
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I -
Imerslund Gräsbeck Syndrome
l.o. Isovaleric Acidemia
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M -
Maple Syrup Urine Disease (Variant)
MELAS
Menkes Disease Occipital Horn Syndrome
l.o. Metachromatic Leukodystrophy
3-Methylcrotonylglycinuria
3-Methylglutaconic Aciduria Type I
l.o. Methylmalonic Acidemia
MHBD Deficiency
mHMG-CoA Synthase Deficiency
Molybdenum Cofactor Deficiency Type A
l.o. MTHFR Deficiency
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N -
l.o. NAGS Deficiency
Niemann Pick Disease Type C
l.o. Non-Ketotic Hyperglycinemia
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O -
l.o. OTC Deficiency
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P -
PCBD Deficiency (Biopterin Deficiency)
PDH Complex Deficiency
Phenylketonuria
PHGDH Deficiency (Serine deficiency)
PSAT Deficiency (Serine deficiency)
l.o. Propionic Acidemia
PSPH Deficiency (Serine deficiency)
PTS Deficiency (Biopterin Deficiency)
Pyridoxine Dependent Epilepsy
Pyrimidine 5-Nucleotidase Superactivity
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S -
Sanfilippo Syndrome A (MPS IIIa)
Sanfilippo Syndrome B (MPS IIIb)
Sanfilippo Syndrome C (MPS IIIc)
Sanfilippo Syndrome D (MPS IIId)
SCOT Deficiency
Sjögren Larsson Syndrome
Sly Syndrome (MPS VII)
Smith Lemli Opitz Syndrome
SPR deficiency (Biopterin deficiency)
SSADH Deficiency
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T -
Thiamine Responsive Encephalopathy
Tyrosine Hydroxylase Deficiency
Tyrosinemia Type II
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W -
Wilson Disease
