Disease #05620 (MKHK (syndrome, Menke-Hennekam))

Official abbreviation MKHK
Name syndrome, Menke-Hennekam
OMIM ID -
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CREBBP
Associated tissues -
Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00381537 183910 - - F no Germany - - 0 - - MKHK Arachnodactyly, Long toe, Slender toe, Global developmental delay, Seizure, Ataxia, Abnormality of coordination, Hydrocephalus, Abnormality of the pons, Arachnoid cyst, Seizure, Asthma, Joint hypermobility, Muscular hypotonia, Muscular hypotonia of the trunk, Motor delay, Macrocephaly, Chronic constipation, Dental malocclusion, Focal-onset seizure EP300 EP300 1 1 Andreas Laner
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