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Coffin-lowry Syndrome
Coffin-Lowry syndrome
Overview
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Genetic disorders
(49)
Glycogen storage disease type iib
MASA syndrome
X-linked sideroblastic anemia
Aicardi syndrome
Glutaricaciduria
Glutaricaciduria
Becker's muscular dystrophy
Lipid storage disorder
Adrenoleuk- odystrophy
Simpson-Go- labi-Behmel syndrome
McLeod syndrome
Pyruvate dehydrogenase deficiency
Crouzonode- rmoskeletal syndrome
Cerebrohepatorenal syndrome
Thrombocytopenia absent radius
Alport syndrome
Coffin-Siris syndrome
Carnitine palmitoylt- ransferase I deficiency
VATER syndrome
Barth syndrome
Ablepharon macrostomia syndrome
Trisomy
Multiple hereditary exostoses
Shwachman syndrome
Lelis syndrome
Androgen insensitivity syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
X-linked dominant
Pallister-Hall syndrome
X-linked severe combined immunodeficiency
Popliteal pterygium syndrome
Meckel-Gruber syndrome
Cerebral cavernous malformation
Turner syndrome
Laurence Moon syndrome
Carnitine palmitoylt- ransferase II deficiency
Craniofacial dysostosis
Otospondyl- omegaepiphyseal dysplasia
Cockayne syndrome
Aarskog syndrome
Haemophilia
Congenital myopathies
Kniest dysplasia
Kindler syndrome
22q11.2 deletion syndrome
Charcot marie tooth
Genetic disorder
Partial trisomy
Trisomy 9
Adenosine deaminase deficiency
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Diseases and disorders
(60)
Craniofrontonasal dysplasia
Progressive sclerosing poliodystrophy
Neurological disorders
Floating harbor syndrome
Chromosome 9 trisomy
Chromosome 9 trisomy
X-linked hypophosphatemia
Hypoplasia
Chromosome 5 trisomy 5p
Hypotonia
Chromosome 5p- syndrome
Focal dermal hypoplasia
X-linked lymphoproliferative disease
Congenital facial diplegia
Phytanic acid storage disease
Opitz syndrome
Crow-Fukase syndrome
X-linked ichthyosis
Atelosteogenesis type 2
Chronic Progressive External Ophthalmoplegia
Cowden syndrome
Centronuclear myopathy
X-linked mental retardation
Menkes syndrome
Craniosynostosis
Ollier disease
Pick disease of the brain
Curvature of the spine
dercum disease
Hypohidrotic ectodermal dysplasia
Glycogen storage disease type iib
MASA syndrome
X-linked sideroblastic anemia
Glutaricaciduria
Becker's muscular dystrophy
Lipid storage disorder
Pyruvate dehydrogenase deficiency
Cerebrohepatorenal syndrome
Thrombocytopenia absent radius
Alport syndrome
VATER syndrome
Barth syndrome
Ablepharon macrostomia syndrome
Multiple hereditary exostoses
Shwachman syndrome
Androgen insensitivity syndrome
Pallister-Hall syndrome
Popliteal pterygium syndrome
Cerebral cavernous malformation
Carnitine palmitoylt- ransferase II deficiency
Craniofacial dysostosis
Cockayne syndrome
Aarskog syndrome
Haemophilia
Congenital myopathies
Kniest dysplasia
22q11.2 deletion syndrome
Charcot marie tooth
Partial trisomy
Trisomy 9
Adenosine deaminase deficiency
more...
Inborn errors of metabolism
(107)
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cerebrohepatorenal syndrome
Cholesteryl ester storage disease
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glutaricaciduria
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type III
Glycogen storage disease type V
Glycogen storage disease type iib
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes syndrome
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Phytanic acid storage disease
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
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Autosomal recessive disorders
(12)
Glycogen storage disease type iib
Lipid storage disorder
Carnitine palmitoylt- ransferase I deficiency
Ablepharon macrostomia syndrome
Shwachman syndrome
Shwachman syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Meckel-Gruber syndrome
Carnitine palmitoylt- ransferase II deficiency
Otospondyl- omegaepiphyseal dysplasia
Cockayne syndrome
Kindler syndrome
Adenosine deaminase deficiency
more...
Rare diseases
(16)
Glycogen storage disease type iib
Lipid storage disorder
Cerebrohepatorenal syndrome
Carnitine palmitoylt- ransferase I deficiency
Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome
Multiple hereditary exostoses
Crow-Fukase syndrome
Lelis syndrome
Popliteal pterygium syndrome
Meckel-Gruber syndrome
Cowden syndrome
Menkes syndrome
Cockayne syndrome
Aarskog syndrome
Kindler syndrome
Adenosine deaminase deficiency
more...
Hepatology
Glycogen storage disease type iib
Cerebrohepatorenal syndrome
Carnitine palmitoylt- ransferase I deficiency
Meckel-Gruber syndrome
Carnitine palmitoylt- ransferase II deficiency
Nervous system disease
(8)
Fragile X syndrome
Norrie disease
Ocular albinism
Ocular albinism type 1
Pelizaeus-- Merzbacher disease
Pelizaeus-- Merzbacher disease
X-linked alpha thalassemia mental retardation syndrome
X-linked spinal muscular atrophy 2
MASA syndrome
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See also
(20)
Hyper IgM Syndrome Type 1
X linked
Hirayama syndrome
RPS6KA3
Myoclonic Encephalopathy of infants
Myoclonic Encephalopathy of infants
Coffin Fly
Acquired epileptiform aphasia
Hallervorden-spatz syndrome
Coffin Joint
Ribosomal s6 kinase
KAL1
Alternating hemiplegia
X-linked recessive
Congenital malformations
Short stature
Kluver Bucy Syndrome
Skeletal abnormalities
Immune disorders
Subcutaneous tissue
Autosomal recessive
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