Disease #05778 (NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)), OMIM:618088)

Official abbreviation NEDAMSS
Name neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)
OMIM ID 618088
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 4
Associated with 1 gene IRF2BPL
Associated tissues -
Disease features -
Remarks -
Date created 2020-07-05 09:16:03 +02:00 (CEST)
Date last edited N/A


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00414015 202095 - - M ? Cameroon - - - - - NEDAMSS Tall stature, Delayed speech and language development, Gait imbalance, Postural instability, Tip-toe gait IRF2BPL IRF2BPL 1 1 Andreas Laner
00419667 207216 - - M no Germany - - - - - NEDAMSS Neurodevelopmental abnormality, Microcephaly, Cerebral palsy, Seizure, Abnormality of movement, Delayed eruption of permanent teeth IRF2BPL IRF2BPL 1 1 Andreas Laner
00433667 - - - - - - - - - - - NEDAMSS atypical autism, gait abnormality - IRF2BPL 1 1 Marketa Wayhelova
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