Disease #05114 (MEB (muscle-eye-brain disease (MEB)))

Official abbreviation MEB
Name muscle-eye-brain disease (MEB)
OMIM ID -
Inheritance -
Individuals reported having this disease 89
Phenotype entries for this disease 89
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2016-01-11 01:44:42 +01:00 (CET)
Date last edited N/A


Individuals

89 entries on 1 page. Showing entries 1 - 89.
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00056473 - - 2-generation family, 1 affected, unaffected carrier parents M - Pakistan - >8y - - - MEB MEB;WWS; prenatal oligohydramnios; severe intellectual delay; sensorineural hearing loss; ataxia; retinal dysfunction (on electroretinogram); no cardiorespiratory findings; brain MRI pontine and cerebellar hypoplasia; CPK 2,974 max U/l; max motor ability w(support)3y GMPPB GMPPB 2 1 Johan den Dunnen
00056494 - PubMed: Raphael 2014, Journal: Raphael 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/sibs F no United States Jewish-Ashkenazi;Ukrain;Poland;Ireland - - - - MEB see paper; alpha-dystroglycanopathy, congenital muscular dystrophy, generalized seizures, developmental delay, elevated serum creatine kinase, microcephaly, plagiocephaly (1), feeding difficulties, proximal weakness, epilepsy ( (absence, myoclonic, drop attacks) (1), strabismus, …; CPK 4233-4505 U/L GMPPB GMPPB 2 2 Johan den Dunnen
00057846 - PubMed: Stevens 2013 - M ? United Kingdom (Great Britain) Turkish - - - - MEB delayed gross motor skills, unable to walk, communication limited, vision intact; brain involvement not detected in prenatal scans; severe hyptonia; CPK: 894 U/L B3GALNT2 B3GALNT2 2 1 Johan den Dunnen
00057855 - PubMed: Stevens 2013 - F ? Saudi Arabia - - - - - MEB less severe, clinical/radiological features dystroglycanopathy, brain MRI abnormal white matter signal T2-weighted, severe hyptonia, did not attain any motor milestones; CPK: 1740 U/L B3GALNT2 B3GALNT2 2 1 Johan den Dunnen
00057859 - PubMed: Stevens 2013 - M no United Kingdom (Great Britain) Europe - - - - MEB all motor milestones delayed (axial hypotonia/increased limb tone due to spasticity); never acquired independent walking; 6y-able to take steps with hands held, using standing device; communication skills mostly confined to sign language, vision severely impaired (marked myopia complicated by bilateral partial retinal detachment); brain MRI cerebellar cysts, thin corpus callosum, diffusely abnormal white matter signal on T2-weighted images, cortical dysplasia (frontoparietal polymicrogyria); severe hyptonia; CPK: 1132 U/L B3GALNT2 B3GALNT2 2 1 Johan den Dunnen
00095185 28765568-Pat1 PubMed: Xu 2017 - - - China - - - - - MEB - POMGNT1 POMGNT1 1 1 Xiaona Fu
00095186 28765568-Pat2 PubMed: Xu 2017 - - - China - - - - - MEB - POMGNT1 POMGNT1 2 1 Xiaona Fu
00095188 28765568-Pat3 PubMed: Xu 2017 - - - China - - - - - MEB - POMGNT1 POMGNT1 2 1 Xiaona Fu
00146601 Pat1/Pat12 PubMed: Beltran, PubMed: Torelli 2005, PubMed: Mercuri 2006, OMIM:var0016 non-consanguineous parents M no Germany - - - - - MEB proximal muscle weakness, cardiac arrhythmia, age 67 pacemaker support FKRP FKRP 2 1 Johan den Dunnen
00146639 Pat11 PubMed: Mercuri 2006 - - - - - - - - - MEB - FKRP FKRP 2 1 Johan den Dunnen
00152131 15466003-Pat25 PubMed: Diesen 2004 - - - United States - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152132 15466003-Pat23 PubMed: Diesen 2004 - - - United States - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152133 15466003-Pat22 PubMed: Diesen 2004 - - - Estonia - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152134 12849864-PatB PubMed: Zhang 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - >07y - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152135 15833426-Pat2 PubMed: Matsumoto 2005 - M - Japan - >00y06m - - - MEB see paper; ..., CPK 6900; intellectual disability (HP:0001249) POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152137 15466003-Pat29/30 PubMed: Diesen 2004 2-generation family, 2 affected siblings, unaffected heterozygous carrier parents - - Israel Arab - - - - MEB - POMGNT1 POMGNT1 1 2 Johan den Dunnen
00152138 11709191-PatSA PubMed: Yoshida 2001, PubMed: Manya 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152139 15466003-Pat26 PubMed: Diesen 2004 - - - United States - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152140 15466003-Pat21 PubMed: Diesen 2004 - - - Norway - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152141 15466003-Pat19 PubMed: Diesen 2004 - - - Sweden - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152142 15466003-Fams PubMed: Diesen 2004 18 affecteds 13 families (1 consanguineous, second-cousin parents); shared founder haplotype F;M - Finland - - - - - MEB - POMGNT1 POMGNT1 1 18 Johan den Dunnen
00152143 16427280-PatK PubMed: Vajsar 2006 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - United States - - - - - MEB see paper; ..., CPK ?, severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 2 Johan den Dunnen
00152144 16427280-PatR PubMed: Vajsar 2006 PatR M - - - - - - - MEB see paper; ..., CPK 4485; severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152145 - PubMed: Zhang 2003 - - - - - >1y - - - MEB severly reduced enzyme activity POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152146 11709191-PatYA PubMed: Yoshida 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152147 11709191-PatKO PubMed: Yoshida 2001 - M yes Turkey - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152148 17906881-Pat5 PubMed: Haliloglu 2004, PubMed: Hehr 2007 2-generation family, unaffected heterozygous carrier parents F yes Turkey - >15y - - - MEB severe autistic features; CPK 1868 POMGNT1 POMGNT1 1 2 Johan den Dunnen
00152149 11709191-PatMK PubMed: Yoshida 2001, PubMed: Taniguchi 2003, PubMed: Zhang 2003, PubMed: Manya 2003 2-generation family, 4 affecteds (3M, 1F), unaffected heterozygous carrier parents M ? Turkey - - - - - MEB - POMGNT1 POMGNT1 1 4 Johan den Dunnen
00152150 11709191-PatCC PubMed: Yoshida 2001, PubMed: Manya 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152152 11709191-PatTLG PubMed: Yoshida 2001, PubMed: Zhang 2003, PubMed: Manya 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - MEB - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152153 15236414-FamK6914PatII1 PubMed: Vervoort 2004, PubMed: Vajsar 2006 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents F no United States white - - - - MEB 20w ultra sound abnormal hydrocephalus; 42w-delivered by C-section, head 37 cm, hypotonia; 5dhead 38cm, bradycardia, ventriculoperitoneal shunt placed; 4w-corneal clouding, bilateral glaucoma, high myopia, staphylomas, optic nerve hypoplasia, retinal degeneration, cortical cataracts, nystagmus; 5m-epilepsy; complex partial with secondary generalized tonic-clonic and atypical absence seizures, status epilepticus 2x, ECG abnormal-slowing, left focal and spike waves; 6y-weaned from antiepileptic medication; severe to profound cognitive delays, mental retardation, averbal, no regression; severe/profound gross and fine motor delays with diffuse hypotonia, reflexes normal, HC at 10th percentile, height and weight 2nd percentile, low hairline, everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 2327 IU/l; CT/MRI brain abnormal with ventriculoperitoneal shunt POMGNT1 POMGNT1 3 2 Johan den Dunnen
00152155 Pat31;patient PubMed: Diesen 2004, PubMed: Pascual-Castroviejo probably same patient in both papers M - Spain - - - - - MEB - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152157 15833426-Pat3 PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - F - Japan - >01y - - - MEB see paper; ..., CPK 8019; intellectual disability (HP:0001249) POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152159 15466003-Pat27/28 PubMed: Diesen 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents - - United States - - - - - MEB - POMGNT1 POMGNT1 2 2 Johan den Dunnen
00152160 15466003-Pat20 PubMed: Diesen 2004 - - - Sweden - - - - - MEB - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152161 15466003-Pat18 PubMed: Diesen 2004 - - - Finland - - - - - MEB - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152162 15466003-Pat24 PubMed: Diesen 2004 - M - United States - - - - - MEB - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152163 - PubMed: Longman 2004 - M - United Kingdom (Great Britain) Anglo-Irish >2y - - - MEB CPK 1567 POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152164 16427280-PatI PubMed: Zhang 2003, PubMed: Vajsar 2006 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F - - - >02y - - - MEB see paper; ... POMGNT1 POMGNT1 2 2 Johan den Dunnen
00152165 15466003-Pat32 PubMed: Diesen 2004 - - - Italy - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152192 17881266-Pat2 PubMed: Teber 2008 younger sib M yes Taiwan - 06y - - - MEB seizures, epilepsy, brain lissencephaly; CPK 572; intellectual disability (HP:0001249); onset neonatal; no motor ability POMGNT1 POMGNT1 1 1 Rosário dos Santos
00152193 17881266-Pat1 PubMed: Teber 2008 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents; intrafamilial clinical heterogeneity F yes Turkey - >14y - - - MEB brain MRI changes; CPK 1200; moderate intellectual disability (HP:0002342); onset neonatal; able to sit with support POMGNT1 POMGNT1 1 2 Rosário dos Santos
00152195 17906881-Pat2a PubMed: Hehr 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Germany - - - - - MEB tonic clonic seizures; CPK 2600 POMGNT1 POMGNT1 1 2 Rosário dos Santos
00152196 17906881-Pat2b PubMed: Hehr 2007 Pat2b M - Germany - - - - - MEB tonic clonic seizures, hydrocephaly, brain MRI changes, gallbladder hydrops; CPK 1600; onset neonatal POMGNT1 POMGNT1 1 1 Rosário dos Santos
00152197 17906881-Pat3 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - >16y - - - MEB tonic clonic seizures, hydrocephaly, brain MRI changes, autistic behaviour; CPK 724 POMGNT1 POMGNT1 1 1 Rosário dos Santos
00152198 17906881-Pat4 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - >04y - - - MEB spastic tetraparesis, no seizures, hydrocephaly, polymicrogyria; CPK increased; able to sit with support POMGNT1 POMGNT1 2 1 Rosário dos Santos
00152199 - PubMed: Hehr 2007 - M yes Turkey - >6y - - - MEB CPK 190; onset neonatal; no motor ability POMGNT1 POMGNT1 2 1 Rosário dos Santos
00152200 17906881-Pat7 PubMed: Haliloglu 2004, PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents (first-degree parents) M yes Turkey - >02y - - - MEB seizures, severe hydrocephaly, brain changes; CPK 1000; onset neonatal; able to sit with support POMGNT1 POMGNT1 1 1 Rosário dos Santos
00152201 17906881-Pat8 PubMed: Hehr 2007 - F - - - >05y - - - MEB seizures, hydrocephaly,cerebellar cysts; CPK 1950; mild intellectual disability (HP:0001256); onset neonatal POMGNT1 POMGNT1 2 1 Rosário dos Santos
00152202 - - - F - (United States) - - - - - MEB - POMGNT1 POMGNT1 2 1 Tom Winder
00152203 - PubMed: Willer 2012 - - - (United States) - - - - - MEB - POMGNT1 POMGNT1 3 1 Tom Winder
00152204 - - - - - United States - - - - - MEB congenital glaucoma, hydrocephalus; CPK elevated POMGNT1 POMGNT1 2 1 Tom Winder
00152206 - - - F - Saudi Arabia Arab - - - - MEB - POMGNT1 POMGNT1 1 1 Tom Winder
00152209 21727005-Pat1 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia - >08y - - - MEB MRI brain dilated ventricles, pachygyria, cerebellar cysts, never walked, axial hypotonia requiring molded seat, epilepsy, severe eye dysfunction (right blindness, left severe myopia); CPK 900 UI/l; not able to walk POMGNT1 POMGNT1 1 2 Johan den Dunnen
00152210 21727005-Pat2 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Algeria;France - >08y - - - MEB 2m life-threatening cyanosis in context gastrooesophageal reflux, hypotonia, motor development delayed, scoliosis, MR with absent verbal ability, autistic signs, shifty eyes, severe myopia; 4y muscle biopsy discrete fiber size variability, slightly increased connective endomysial tissue, EMG myopathic changes, normal nerve conduction velocities, ERG moderate macular activity, MRI brain atrophy brain stem, abnormality periventricular white matter; CPK 800-1000 UI/l; intellectual disability (HP:0001249); 5y-able to walk POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152211 - - - - - United States - - - - - MEB - POMGNT1 POMGNT1 2 1 Tom Winder
00152232 - - - F - United States - - - - - MEB - POMGNT1 POMGNT1 2 1 Tom Winder
00152335 - PubMed: Godfrey 2007 - - yes - - - - - - MEB - POMT1, POMT2 POMT1, POMT2 6 1 Judith Pagan
00152435 18513969-Pat15 PubMed: Villanova, PubMed: Mercuri 2006, PubMed: Messina 2008 - F - Italy - - - - - MEB atypical phenotype; CPK 10x POMT2 POMT2 2 1 Johan den Dunnen
00152474 - - - - yes - - - - - - MEB - POMT2 POMT2 2 1 Judith Pagan
00152539 22554691-Pat1 PubMed: Saredi 2012 - M - Italy - - - - - MEB microcephaly, spastic tetraparesis, max. motor achievement head control, rounded forehead, thin lips, short neck, micrognathia, retinopathy, severe mental retardation, CPK 1576 UI/l POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152542 22554691-Pat2 PubMed: Saredi 2012 - M - Italy - 17y - - - MEB failure to thrive, global hypotonia, postural control not achieved, no facial dysmorphisms, severe mental retardation, myopia, cataracts, retinitis pigmentosa, CPK 1215 UI; 17y-sudden death POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152543 22554691-Pat3 PubMed: Saredi 2012 - F - Italy - - - - - MEB macrocephaly, tetraparesis, postural control not achieved, frontal bossing, saddle nose, splayed nostrils, low-set ears, micrognathia, severe mental retardation, poor response to sounds and visual stimuli, no eye involvement, CPK 702 UI POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152544 22554691-Pat4/5 PubMed: Saredi 2012 2-generation family, 2 affected fetuses (F, M) F;M yes Italy - <00y00m01d - - - MEB see paper; ... POMGNT1 POMGNT1 1 2 Johan den Dunnen
00152545 23689641-Pat1 PubMed: Jiao 2011, PubMed: Jiao 2013 - M - China - - - - - MEB see paper; ... POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152546 23689641-Pat2 PubMed: Jiao 2013 - F - China - - - - - MEB see paper; ... POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152547 23689641-Pat3 PubMed: Jiao 2013 - M - China - - - - - MEB see paper; ... POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152548 19679478-Pat PubMed: Demir 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Turkey - - - - - MEB see paper; ... POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152549 24731844-Pat10 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Turkey - - - - - MEB CK 700 IU/l, optic disc paleness; brain MRI no ventriculomegaly (-HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); mild intellectual disability (HP:0001256) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152550 24731844-Pat9 PubMed: Yis 2014 - F ? Turkey - - - - - MEB CK 923 IU/l, esotropia; brain MRI ventriculomegaly (HP:0002119), no white matter abnormalities (-HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); moderate intellectual disability (HP:0002342); strabismus, partial seizures, moderate developmental delay POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152551 17906881-Pat6 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MEB see paper; ..., classical MEB associated, marked hydrocephalus POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152552 17906881-Pat1 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States California, south - - - - MEB see paper; ..., infatile spasms, hydrocephaly, brain MRI changes; CPK 550; onset neonatal POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152553 24731844-Pat1a PubMed: Yis 2014 2-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents M - Turkey - - - - - MEB CK 4267 IU/l, cataracts; brain MRI normal, no ventriculomegaly (-HP:0002119), no white matter abnormalities (-HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 2 Johan den Dunnen
00152554 24731844-Pat1b PubMed: Yis 2014 Pat1b M - Turkey - - - - - MEB CK 4267 IU/l, cataracts; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152555 24731844-Pat2 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - MEB CK 3451 IU/l, cataracts, glaucoma; brain MRI no ventriculomegaly (-HP:0002119), no white matter abnormalities (-HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), cerebral atrophy (HP:002509); severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152556 24731844-Pat3 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - MEB CK 2300 IU/l; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), nocerebral atrophy (-HP:002509) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152557 24731844-Pat4 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - MEB CK 1394 IU/l, cataracts; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152558 24731844-Pat5 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - MEB CK 2500 IU/l POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152559 24731844-Pat6a PubMed: Yis 2014 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents M - Turkey - - - - - MEB CK 2678 IU/l; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), brainstem hypoplasia (HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 2 Johan den Dunnen
00152560 24731844-Pat6b PubMed: Yis 2014 Pat6b F - Turkey - - - - - MEB CK 2400 IU/l; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), brainstem hypoplasia (HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152561 24731844-Pat7 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - MEB CK 1500 IU/l, retinal detachment; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), brainstem hypoplasia (HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); moderate intellectual disability (HP:0002342) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152562 24731844-Pat8 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - MEB CK 3000 IU/l, retinal detachment, optic atrophy; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), brainstem hypoplasia (HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864) POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152563 20215985-Pat1 PubMed: Shenoy 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - MEB see paper; ... POMGNT1 POMGNT1 3 1 Johan den Dunnen
00152564 15236414-FamK6914PatII3 PubMed: Vervoort 2004, PubMed: Vajsar 2006 PatII3 M no United States white - - - - MEB 14w ultra sound hydrocephalus, polyhydramnios; 38w-delivered by C-section, head 38 cm, hydrocephalus, hypotonia; 9d ventilator, no ventriculoperitoneal shunt; 3m-corneal clouding, bilateral glaucoma, high myopia, optic nerve hypoplasia, nystagmus; no epilepsy; mild/moderate cognitive and fine motor delays, no regression; moderate/severe gross motor delays with diffuse hypotonia, reflexes normal, HC at 55th percentile, height 5th percentile, weight 2nd percentile; everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 495 U/l; brain MRI abnormal without shunting POMGNT1 POMGNT1 3 1 Johan den Dunnen
00152565 12849864-PatD PubMed: Zhang 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Turkey - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152566 12849864-PatA PubMed: Zhang 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - - - - MEB - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152567 16427280-PatL PubMed: Vajsar 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - MEB - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152574 24282183-Pat1 PubMed: Raducu 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - MEB see paper; ... POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152632 - PubMed: Clement - - - - - >1y - - - MEB no microcephaly, myopia; CPK 400; intellectual disability LARGE LARGE 2 1 Johan den Dunnen
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