Disease #00011 (USH3B (Usher syndrome, type 3B (USH-3B)), OMIM:614504)

Official abbreviation USH3B
Name Usher syndrome, type 3B (USH-3B)
OMIM ID 614504
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 1 gene HARS
Associated tissues -
Disease features -
Remarks -
Date created 2012-06-29 17:09:32 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00001503 Pat2 PubMed: Santen 2013 - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00132811 - the CFTR2 database see CFTR2 database for details - - - - - - - - USH3B - CFTR CFTR 2 1 Johan den Dunnen
00314625 FamPatV4 PubMed: Landires 2020 - M yes Colombia Indian - - - - USH3B see paper; ..., onset pelvic, muscle, 22y-still walking, raised CK (14x), contractures elbows, ankles neck and Achilles tendons; inability to climb stairs; functional stage IV CAPN3 CAPN3 1 1 Johan den Dunnen
00408986 15 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - USH3B retinitis pigmentosa; progressive sensorineural hearing loss; episodic psychosis HARS HARS 1 1 LOVD
00408987 16 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - USH3B retinitis pigmentosa; progressive sensorineural hearing loss; episodic psychosis HARS HARS 1 1 LOVD
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