Disease #06152 (IDDBCS (Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures), OMIM:618725)

Official abbreviation IDDBCS
Name Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
OMIM ID 618725
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 PHF21A
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00422284 205618 - - M ? Iraq kurdish - - - - IDDBCS Abnormal vitamin B12 level, Hypotonia, Global developmental delay PHF21A PHF21A 1 1 Andreas Laner
00435426 264896 - - M no Germany - - - - - IDDBCS Global developmental delay, Plagiocephaly, Hemangioma, Patent foramen ovale, Hypotonia, Ankyloglossia, Pneumothorax, Periventricular white matter hyperintensities, Very preterm birth, Excessive salivation PHF21A PHF21A 1 1 Andreas Laner
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