Disease #05921 (HADDS (hypotonia, ataxia, and delayed development syndrome (HADDS)), OMIM:617330)

Official abbreviation HADDS
Name hypotonia, ataxia, and delayed development syndrome (HADDS)
OMIM ID 617330
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene EBF3
Associated tissues -
Disease features -
Remarks -
Date created 2021-04-15 08:29:47 +02:00 (CEST)
Date last edited N/A


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00416024 203865 - - F no France - - - - - HADDS Initial suspicion of Cornelia de Lange syndrom, psychiatric disorder, mood disorder, no intellectual disability, no microcephaly, no limb abnormality, no facial dysmorphism EBF3 EBF3 1 1 Andreas Laner
00434128 234550 - - M no Germany - - - - - HADDS Global developmental delay, Ataxia, Hypotonia, Strabismus, Absent speech EBF3 EBF3 1 1 Andreas Laner
00472193 - Verebi et al. (submitted) - M - France - - - - - HADDS Delayed fine motor development * Delayed social development - EBF3 1 1 Camille Verebi
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