Disease #04660 (EIEE30 (encephalopathy, epileptic, early infantile, type 30 (EIEE-30)), OMIM:616341)

Official abbreviation EIEE30
Name encephalopathy, epileptic, early infantile, type 30 (EIEE-30)
OMIM ID 616341
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SIK1
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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AscendingIndividual ID     
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00459426 314547 - - M ? ? (unknown) - - - - - EIEE30 Intellectual disability, Autistic features, Global developmental delay SIK1 SIK1 1 1 Andreas Laner
00464623 324860 - - M no Germany - - - - - EIEE30 Large for gestational age, Feeding difficulties, Neurodevelopmental delay, Motor delay, Delayed speech and language development, Intellectual disability, Frequent falls, Recurrent infections, Hypotonia, Facial hypotonia, Epicanthus, Hypertelorism, Thin upper lip vermilion, Coarctation of aorta, Abnormality of coagulation SIK1 SIK1 1 1 Andreas Laner
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