Disease #01424 (VMD (dystrophy, macular, vitelliform (VMD)))

Official abbreviation VMD
Name dystrophy, macular, vitelliform (VMD)
OMIM ID -
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 4
Associated with 4 genes BEST1, IMPG1, IMPG2, PRPH2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-07-06 09:48:47 +02:00 (CEST)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00305912 Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD, VMD no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal BEST1, IRF2BPL ALG9, BEST1, CACNA1H, CARS2, GLDC, HERC2, IRF2BPL, KCNK9, NDUFAF5, PIGT, TMEM199 11 1 Johan den Dunnen
00373802 - - - M - Netherlands - - - - - VMD - - IMPG2 2 1 Zeinab Fadaie
00373803 - - - M - Netherlands - - - - - VMD - - IMPG2 2 1 Zeinab Fadaie
00417497 FamBPatII2 PubMed: Olivier 2021 2-generation family, 1 affected, unaffected carrier mother and 2 sisters F - France - - - - - VMD see paper IMPG1 IMPG1 1 1 Johan den Dunnen
00417501 FamFPatI1/II1 PubMed: Olivier 2021 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - VMD see paper IMPG1 IMPG1 1 2 Johan den Dunnen
00417502 FamGPatI1/II1 PubMed: Olivier 2021 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - VMD see paper IMPG1 IMPG1 1 2 Johan den Dunnen
00436602 3191274 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - NONE VMD Macular dystrophy HP:0007754, Reduced visual acuity HP:0007663 BEST1 BEST1 1 1 Rocio Villafuerte-de la Cruz
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