Phenotypes for disease #00006 (IVA (isovaleric acidemia (IVA)), OMIM:243500)

6 entries on 1 page. Showing entries 1 - 6.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

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Owner     

Individual ID     
0000335776 elevated isovaleryl carnitine, infantile hypotonia, severe neurodevelopmental disorder, patent ductus arteriosus, cryptorchidism, obesity, distinctive facial features, isovaleric acidemia Familial, autosomal recessive 05y isovaleric acidemia 05y 01y elevated isovaleryl carnitine - Ke Wu 00446575
0000339381 Delayed speech and language development, Neonatal sepsis, Metabolic acidosis, Deep palmar crease aciduria Familial, autosomal recessive 04y10m Isovaleric acidemia 05y05m - - - Miriam Erandi Reyna-Fabián 00450320
0000339383 Lumbar hemivertebrae Isovaleric acidemia Familial, autosomal recessive 05y Isovaleric acidemia 06y03m - - - Miriam Erandi Reyna-Fabián 00450322
0000340120 Moderate intellectual disability, seizures, Mongolian blue spot Isovaleric acidemia Familial, autosomal recessive - Isovaleric acidemia 04y01m - - - Miriam Erandi Reyna-Fabián 00451363
0000340275 Hyperactivity, cupped ear Isovaleric acidemia Familial, autosomal recessive - Isovaleric acidemia 00y02m - - - Miriam Erandi Reyna-Fabián 00451600
0000340304 Severe intellectual disability Isovaleric acidemia Familial, autosomal recessive - Isovaleric acidemia 03y - - - Miriam Erandi Reyna-Fabián 00451643
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