126 possible diagnoses found. Too many? Narrow results
Electromagnetic, Physics, trauma, Radiation Causes
Infectious Disorders (Specific Agent)
Infected organ, Abscesses
Allergic, Collagen, Auto-Immune Disorders
Metabolic, Storage Disorders
- Primary lactic acidemia/children
- Combined carboxylase/Biotinidase deficiency
- Cytochrome C Oxidase Deficiency/COX Complex Defect
- French-Canadian type COX mitochondrial defect
- Molybdenum cofactor deficency
- Pyruvate carboxylase enzyme deficiency/PCD
- Pyruvate Dehydrogenase Complex Deficiency/PDCD
- Infantile mitochondrial myopathy/Cox defect
- Acyl-CoA Dehydrogenase/short chain def
- Cerebral Gaucher's of infants (acute)
- Cerebral lipidosis disorder
- LCHAD/Long chain OH-CoA dehydrogenase def
- MCAD/Medium chain OH-CoA Dehydrogenase def
- Succinic Semialdehyde dehydrogenase Deficiency
- VLCHAD/Very Long chain OH-CoA dehydrogenase def
- Alpha-NAGA deficency (Schindler)
- Carnitine deficiency syndrome
- Farber disease/ceramide lipidosis
- Fucosidosis (Anderson-Fabry)
- Gangliosidosis, generalized (GM1)
- Glycogen storage muscle disease/Pompe
- Infantile ceroid lipofuscinosis/Finnish (Santvuori-Haltia)
- Mucolipidosis IV (Bermans Syndrome)
- Niemann-Pick disease
- Phosphoenolpyruvate carboxykinase defic (PEPCK)
- Pompe disease/myocarditis
- Tetrahydrobiopterin deficiency/Atypical PKU
- Barth Syndrome/3 MethylGlutoconic aciduria/MGA II
Biochemical Disorders
Congenital, Developmental Disorders
- Down's syndrome
- Cri du Chat/Chromosome 5p (5p15.2)
- Hindbrain malformations
- Trisomy-21 partial translocation
- Allan-Herndon Mental Retardation/X-linked
- Shprintzen-Goldberg craniosynostosis syndrome (15q21.1)
- Cerebrohepatorenal syndrome/Zellweger
- Mulibrey Nanism syndrome
- Cerebral gigantism of childhood (Sotos)
- Cerebro-Oculofacio-Skeletal syndrome
- Chromosome ,long arm 21 deletion
- De Lange syndrome
- Hypotonia of Werdnig-Hoffman
- Pallister Killian Mosaic Syndrome
- Prader-Willi syndrome
- Septo-optic Dysplasia (DeMorsier)
- Velocardiofacial (22q gene) syndrome
- Central Hypotonia Infants
- Cerebral Dysgenesis
- CODAS Syndrome
- Coffin-Lowry Syndrome
- Cohen Syndrome
- Curry-Jones Syndrome
- Slow Channel Myasthenic Syndrome
- Walker-Warburg syndrome (9q34.1)
- Weaver syndrome (Marshall-Smith)
Hereditary, Familial, Genetic Disorders
- Duchenne's Muscular Dystrophy/Pseudohypertrophic
- Fragile X syndrome/X-linked retardation
- Muscular dystrophy
- Muscular dystrophy, limb girdle type
- Muscular dystrophy, progressive
- Nephritis, hereditary (Alports)
- Neuropathy, sensory radicular, heredit.
- Chromosome 22q13.3 deletion syndrome (22q13.3)
- Juberg Marsidi Genetic syndrome (unco)
- Schilder disease/Adrenoleukodystrophy
- Beckwith-Wiedemann Syndrome
- Borjeson-Forssman-Lehmann Syn/BFLS (xq26.3)
- Central core disease
- Facioscapulohumeral muscular dystrophy
- Leukodystrophy, Krabbe
- Muscular atrophy, infantile, spinal
- Myotonia atrophica (Steinert's disease)
- Myotonia congenita (Thomsens d.)
- Nemaline myopathy
- Oculocerebrorenal dystrophy/Lowe synd
- Spondylometaphyseal dysplasia syndrome
- Abducted thumbs syndrome
- Acrocallosal syndrome (ACS)
- Cerebellar ataxia/Cayman type
- Hereditary sensory neuropathy (type II)
- Kabuki make-up syndrome
- Myopathy, Myotubular/Centronuclear
- Neuhauser Syndrome
- Say Syndrome 1
Anatomic, Foreign Body, Structural Disorders
Arteriosclerotic, Vascular, Venous Disorders
Vegetative, Autonomic, Endocrine Disorders
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