Disease #05308 (del 3pterp25 (chromosome deletion syndrome 3pter-p25), OMIM:613792)

Official abbreviation del 3pterp25
Name chromosome deletion syndrome 3pter-p25
OMIM ID 613792
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2017-07-23 21:16:38 +02:00 (CEST)
Date last edited 2022-02-24 17:05:03 +01:00 (CET)


Individuals

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00108444 - PubMed: Gunnarsson 2010 - F - Sweden white - - - - del 3pterp25 congenital heart defect, autistic, mental retardation; hypertelorism, ptosis, flat/broad nasal root, long philtrum, downturned corner mouth, low set ears, bilateral overlap 2nd/4th toes over 3rd/5th toes, hypotonic CAV3 CAV3 1 1 Johan den Dunnen
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