Disease #00005 (MDDGC5;LGMDR9;LGMD2I (dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I)), OMIM:607155)

Official abbreviation MDDGC5;LGMDR9;LGMD2I
Name dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I)
OMIM ID 607155
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease 7
Associated with 1 gene FKRP
Associated tissues -
Disease features -
Remarks -
Date created 2012-06-11 11:22:53 +02:00 (CEST)
Date last edited 2024-01-12 21:52:26 +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
00101231 Pat1 PubMed: Navarro-Cobos 2017 2-generation family, patient and milder affected sister, unaffected heterozygous carrier parents M no Mexico Mexican >10y - yes - MDDGC5;LGMDR9;LGMD2I proximal and pelvic muscle weakness with Gowers' sign, discrete calf pseudohypertrophy; 14m-independent ambulation; 6y-myopathic gait, frequent falls, difficulties in running and with climbing; 10y-still ambulant; MRI muscle with adipose infiltration at gluteus maximus, adductor muscles and vastus lateralis; 9y-cardio-respiratory; hyperCKemia FKRP FKRP 2 2 Miguel Angel Alcántara-Ortigoza
00267245 DMD-786 PubMed: Alcantara-Ortigoza 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Mexico Mexican 15y - yes - MDDGC5;LGMDR9;LGMD2I “BMD phenotype”, hyperCKemia, MP-EMG; died at age 15y due to dilated cardiomyopathy, confirmed by post-mortem study; compound heterozygous sister deceased at 30y due to dilated cardiomyopathy FKRP FKRP 2 2 Miguel Angel Alcántara-Ortigoza
00380796 ? PubMed: Nair 2018 - ? - Lebanon - - - - - MDDGC5;LGMDR9;LGMD2I MD; elevated CK (Neurological) - FKRP 1 1 LOVD
00402558 P9/Myo052 PubMed: Cerino 2022 - M no Chile - - - - - MDDGC5;LGMDR9;LGMD2I - - FKRP 2 1 JA Bevilacqua
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