Disease #05883 (CEBALID (CEBALID syndrome (CEBALID)), OMIM:618774)

Official abbreviation CEBALID
Name CEBALID syndrome (CEBALID)
OMIM ID 618774
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 MN1
Associated tissues -
Disease features -
Remarks -
Date created 2020-12-04 11:38:40 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     
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00380223 183091 - - F no Germany - - - - - CEBALID Abnormality of the head, Microcephaly, Abnormality of the face, Abnormality of the outer ear, Behavioral abnormality, Global developmental delay, Sleep disturbance, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Abnormal ear morphology, Decreased head circumference MN1 MN1 1 1 Andreas Laner
00391502 184511 - - M no Germany - - - - - CEBALID Muscular hypotonia, Global developmental delay, Motor delay, Abnormality of the nasal bridge, Wide nasal bridge, Prominent forehead, Abnormal eyelid morphology, Low-set ears, Thin upper lip vermilion, Edema, Edema of the dorsum of hands, Anteverted nares, Abnormality of earlobe MN1 MN1 1 1 Andreas Laner
00466175 - - - F - Brazil - - - - - CEBALID - - MN1 1 1 Juliana Mazzeu
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