Disease #05998 (BRMUTD (Brain malformations with or without urinary tract defects), OMIM:613735)

Official abbreviation BRMUTD
Name Brain malformations with or without urinary tract defects
OMIM ID 613735
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 1 gene NFIA
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
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00436596 - - - M no - - - - - - BRMUTD Frontal bossing NFIA NFIA 1 1 Gianluca Dini
00436597 - - - F no - - - - - - BRMUTD - NFIA NFIA 1 1 Gianluca Dini
00436598 - - - M no - - - - - - BRMUTD - NFIA NFIA 1 1 Gianluca Dini
00436623 - - - M no - - - - - - BRMUTD - NFIA NFIA 1 1 Gianluca Dini
00457834 311330 - - F no Germany - - - - - BRMUTD Myotonia, Macrocephaly, Axial hypotonia, Gait disturbance, Frontal bossing, Low-set ears, Wide intermamillary distance, Hydrocephalus, Motor delay, Short attention span NFIA NFIA 1 1 Andreas Laner
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