All individuals with variants in gene ISPD

128 entries on 2 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
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 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 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 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 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; 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 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; ; 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 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 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 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 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 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 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 2 1 Johan den Dunnen
00004070 - - case1980 Miami Brain and Tissue Bank for Developmental Disorders ? ? - - - - - - MDDGA7 Walker-Warburg syndrome (WWS); 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 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 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 2 1 Johan den Dunnen
00004074 - - - ? ? United States - - - - - MDDGA7 dystroglycanopathy; congenital hydrocephalus 2 1 Tom Winder
00004075 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 3 affected fetuses ? no France - - - - - MDDGA7 cobblestone lissencephaly; 2 3 Johan den Dunnen
00004076 - - 2-generation family, unaffected carrier parent ? no France - - - - - Healthy/Control -; 1 3 Johan den Dunnen
00004077 - - 2-generation family, unaffected carrier parent ? no France - - - - - Healthy/Control -; 1 3 Johan den Dunnen
00004078 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 2 affected fetuses ? yes France - - - - - MDDGA7 cobblestone lissencephaly; 2 2 Johan den Dunnen
00004079 - - 2-generation family, unaffected carrier parents ? yes France - - - - - Healthy/Control -; 1 2 Johan den Dunnen
00004080 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus ? no France - - - - - MDDGA7 cobblestone lissencephaly; 2 1 Johan den Dunnen
00004081 - - 2-generation family, unaffected carrier parent ? no France - - - - - Healthy/Control -; 1 1 Johan den Dunnen
00004082 - - 2-generation family, unaffected carrier parent ? no France - - - - - Healthy/Control -; 1 1 Johan den Dunnen
00004083 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus ? no France - - - - - MDDGA7 cobblestone lissencephaly; 2 1 Johan den Dunnen
00004084 - - 2-generation family, unaffected carrier parent ? no France - - - - - Healthy/Control -; 1 1 Johan den Dunnen
00004085 - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus ? no France - - - - - MDDGA7 cobblestone lissencephaly; 2 1 Johan den Dunnen
00004086 - - 2-generation family, unaffected carrier parents ? no France - - - - - Healthy/Control -; 1 1 Johan den Dunnen
00004087 - - 2-generation family, unaffected carrier parents ? no France - - - - - Healthy/Control -; 1 1 Johan den Dunnen
00004088 - - - F ? United States - - - - - MDDGA7 Walker-Warburg syndrome; 2 1 Tom Winder
00004089 - - - M ? United States Hispanic - - - - MDDGA7 Walker-Warburg syndrome; 2 1 Tom Winder
00219565 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219580 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219618 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219623 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219625 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219629 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219645 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219698 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219786 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219824 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219825 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219847 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219915 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219943 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219958 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219961 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220016 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220024 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220052 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220063 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220202 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220221 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220279 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220305 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220424 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220433 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220522 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220566 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220576 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220620 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220721 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220827 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220849 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220891 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220901 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220954 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221020 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221048 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221135 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221164 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221281 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221429 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221432 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221469 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221514 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221617 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00221625 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221647 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00221655 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221828 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221831 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221861 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221891 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221920 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221999 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222029 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00222103 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222127 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222187 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222344 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222376 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222454 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222508 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00265239 - - - - - China - - - - - - - 2 1 Danyu Song
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