Disease #00279 (MDDGA7 (dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A7 (MDDGA-7)), OMIM:614643)

Official abbreviation MDDGA7
Name dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A7 (MDDGA-7)
OMIM ID 614643
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 1 gene ISPD
Associated tissues -
Disease features -
Remarks -
Date created 2013-11-22 17:27:42 +01:00 (CET)
Date last edited 2024-01-12 21:25:38 +01:00 (CET)


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00004056 - - 5-generation family, 3 affecteds, 6 unaffected carriers F yes - - - - - - MDDGA7 Walker-Warburg syndrome (WWS) / muscle-eye-brain disease (MEB); neonatal death; cobblestone lissencephaly; hydrocephalus; hypoplasia; encephalocele; cerebellar abnormalities; brainstem kinking; right microphthalmia; bilateral cloudy cornea; left shallows; muscular dystrophy, hypotonia ISPD ISPD 2 7 Johan den Dunnen
00004057 - - 5-generation family, 3 affecteds, 6 unaffected carriers F yes - - 13m - - - MDDGA7 Walker-Warburg syndrome (WWS) / muscle-eye-brain disease (MEB); cobblestone lissencephaly; hydrocephalus; no encephalocele; cerebellar abnormalities; no microphthalmia; bilateral congenital cataract; Buphthalmos, Peter's anomaly; muscular dystrophy, hypotonia ISPD ISPD 2 1 Johan den Dunnen
00004058 - - 5-generation family, 3 affecteds, 6 unaffected carriers F yes - - 9m - - - MDDGA7 Walker-Warburg syndrome (WWS) / muscle-eye-brain disease (MEB); cobblestone lissencephaly; hydrocephalus; no encephalocele; cerebellar abnormalities; brainstem kinking; right congenital cataract; left persistent hyperplastic primary vitreous; muscular dystrophy, hypotonia ISPD ISPD 2 1 Johan den Dunnen
00004059 - - 2-generation family, 2 affecteds, unaffected carrier parents M yes - - 9d - - - MDDGA7 Walker-Warburg syndrome (WWS); severe hydrocephalus; hypoplasia; no encephalocele; no cerebellar abnormalities; left microphthalmia, thin retina; no congenital cataract; glaucoma, corneal oedema; muscular dystrophy, hypotonia ISPD ISPD 2 3 Johan den Dunnen
00004060 - - 2-generation family, 1 affected, unaffected carrier parents M yes - - 4m - - - MDDGA7 Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; partial agenesis; encephalocele; cerebellar abnormalities; brainstem kinking; microphthalmia, no retinal abnormalities; congenital cataract; persistent hyperplastic primary vitreous; ISPD ISPD 2 2 Johan den Dunnen
00004061 - - 2-generation family, 1 affected, unaffected carrier parents M yes - - 14m - - - MDDGA7 Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; left microphthalmia, bilateral retinal detachment, choroidal abnormalities; left congenital cataract; bilateral glaucoma; muscular dystrophy, hypotonia ISPD ISPD 2 2 Johan den Dunnen
00004062 - - 2-generation family, 1 affected, unaffected carrier parents F yes - - 0d - - - MDDGA7 Walker-Warburg syndrome (WWS); fetal death (23+5w gestational age); cobblestone lissencephaly; hydrocephalus; agenesis; no encephalocele; cerebellar abnormalities; brainstem kinking; ; ISPD ISPD 2 2 Johan den Dunnen
00004063 - - 2-generation family, 1 affected, 3 unaffected carriers F yes - - 2y06m - - - MDDGA7 muscle-eye-brain disease (MEB); cobblestone lissencephaly; hydrocephalus; no encephalocele; cerebellar abnormalities; no microphthalmia, retinal detachment; bilateral congenital cataract; synechiae; muscular dystrophy, hypotonia ISPD ISPD 2 3 Johan den Dunnen
00004064 - - 2-generation family, 2 affecteds (F, M) , unaffected carrier parents ? yes - - 2y - - - MDDGA7 Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; bilateral microphthalmia, hyper-plastic vitreous, optic atrophy; bilateral congenital cataract; shallow anterior chamber abnormalities; muscular dystrophy, hypotonia ISPD ISPD 2 3 Johan den Dunnen
00004065 - - 2-generation family, 1 affected, unaffected carrier parents F no - - 2y - - - MDDGA7 Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; no microphthalmia, retinal dysgenesis; ; muscular dystrophy, hypotonia ISPD ISPD 2 2 Johan den Dunnen
00004066 - - 2-generation family, 1 affected, unaffected carrier parents M no - - - - - - MDDGA7 muscle-eye-brain disease (MEB); death >5.5y; pachygyria and polymicrogyria; no hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; no brainstem kinking; right microphthalmia, retinal detachment, optic atrophy; no congenital cataract; glaucoma; muscular dystrophy, hypotonia ISPD ISPD 2 2 Johan den Dunnen
00004067 - - - ? ? - - 15m - - - MDDGA7 Walker-Warburg syndrome (WWS); MRI hydrocephalus, cobblestone lissencephaly, beaded subcortical heterotopia, thin corpus callosum, increased white matter signal, brainstem hypoplasia, cerebellar hypoplasia; bilateral microphthalmia, cataracts, arrested retinal development ISPD ISPD 2 1 Johan den Dunnen
00004068 - - - ? ? - - 16m - - - MDDGA7 Walker-Warburg syndrome (WWS); MRI hydrocephalus with marked thinning cortex, cobblestone lissencephaly, brain stem atrophy; bilateral microphthalmia with cataract, persistent hyperplastic primary vitreous, retinal detachment ISPD ISPD 2 1 Johan den Dunnen
00004069 - - - ? ? - - 24m - - - MDDGA7 Walker-Warburg syndrome (WWS); massive hydrocephalus, cerebellar hypoplasia, cobblestone lissencephaly; bilateral optic nerve hypoplasia, loss of macular pigment ISPD ISPD 2 1 Johan den Dunnen
00004070 - - case1980 Miami Brain and Tissue Bank for Developmental Disorders ? ? - - - - - - MDDGA7 Walker-Warburg syndrome (WWS); ISPD ISPD 2 1 Johan den Dunnen
00004071 - - case1001 Miami Brain and Tissue Bank for Developmental Disorders ? ? - - 6m - - - MDDGA7 Walker-Warburg syndrome (WWS); MRI hydrocephalus, agyria, cobblestone lissencephaly, beaded subcortical heterotopia, thin corpus callosum, brainstem hypoplasia, cerebellar hypoplasia; unilateral microphthalmia with cataract, optic nerve hypoplasia ISPD ISPD 2 1 Johan den Dunnen
00004072 - PubMed: Chitayat 1995, PubMed: Vajsar 2000 - ? ? Canada - 3m - - - MDDGA7 Walker-Warburg syndrome (WWS); MRI hydrocephalus, agyria/pachygyria, cobblestone lissencephaly, cerebellar hypoplasia; Petersí anomaly, retinal detachment, cornea dysplasia ISPD ISPD 2 1 Johan den Dunnen
00004073 - - - ? ? - - - - - - MDDGA7 Walker-Warburg syndrome (WWS); MRI cobblestone lissencephaly with partial pachygyria, hydrocephalus, partial agenesis of corpus callosum, brainstem hypoplasia, cerebellar hypoplasia; unilateral congenital cataract, focal corneal ISPD ISPD 2 1 Johan den Dunnen
00004074 - - - ? ? United States - - - - - MDDGA7 dystroglycanopathy; congenital hydrocephalus ISPD ISPD 2 1 Tom Winder
00004075 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 3 affected fetuses ? no France - - - - - MDDGA7 cobblestone lissencephaly; ISPD ISPD 2 3 Johan den Dunnen
00004078 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 2 affected fetuses ? yes France - - - - - MDDGA7 cobblestone lissencephaly; ISPD ISPD 2 2 Johan den Dunnen
00004080 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus ? no France - - - - - MDDGA7 cobblestone lissencephaly; ISPD ISPD 2 1 Johan den Dunnen
00004083 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus ? no France - - - - - MDDGA7 cobblestone lissencephaly; ISPD ISPD 2 1 Johan den Dunnen
00004085 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus ? no France - - - - - MDDGA7 cobblestone lissencephaly; ISPD ISPD 2 1 Johan den Dunnen
00004088 - - - F ? United States - - - - - MDDGA7 Walker-Warburg syndrome; ISPD ISPD 2 1 Tom Winder
00004089 - - - M ? United States Hispanic - - - - MDDGA7 Walker-Warburg syndrome; ISPD ISPD 2 1 Tom Winder
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