Phenotypes for disease #05114 (MEB (muscle-eye-brain disease (MEB)))

89 entries on 1 page. Showing entries 1 - 89.
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0000043161 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 - - Isolated (sporadic) - - 0d increased tone; microcephaly; cleft palate; feeding difficulties - Johan den Dunnen 00056473
0000043182 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00056494
0000044497 delayed gross motor skills, unable to walk, communication limited, vision intact; brain involvement not detected in prenatal scans; severe hyptonia; CPK: 894 U/L - - Isolated (sporadic) - - - - - Johan den Dunnen 00057846
0000044506 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 - - Isolated (sporadic) - - - - - Johan den Dunnen 00057855
0000044510 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 - - Isolated (sporadic) - - 4m developmental delay, large head circumference - Johan den Dunnen 00057859
0000073586 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Xiaona Fu 00095186
0000073588 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Xiaona Fu 00095188
0000119630 proximal muscle weakness, cardiac arrhythmia, age 67 pacemaker support MEB;MDC-1C - Isolated (sporadic) - - - phenotype: CNS involvement - Johan den Dunnen 00146601
0000119631 - muscle-eye-brain disease (MEB) - Unknown - - - - - Johan den Dunnen 00146639
0000124474 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152131
0000124475 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152132
0000124476 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152133
0000124477 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 07y - - - severly reduced enzyme activity Johan den Dunnen 00152134
0000124478 see paper; ..., CPK 6900; intellectual disability (HP:0001249) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 00y06m - - - - Johan den Dunnen 00152135
0000124480 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152137
0000124481 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - POMGnT1 activity severly reduced Johan den Dunnen 00152138
0000124482 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152139
0000124483 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152140
0000124484 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152141
0000124485 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152142
0000124486 see paper; ..., CPK ?, severe intellectual disability (HP:0010864) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 11y - - - - Johan den Dunnen 00152143
0000124487 see paper; ..., CPK 4485; severe intellectual disability (HP:0010864) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 06y - - - - Johan den Dunnen 00152144
0000124488 severly reduced enzyme activity muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152145
0000124489 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Johan den Dunnen 00152146
0000124490 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Johan den Dunnen 00152147
0000124491 severe autistic features; CPK 1868 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 15y - 03y - - Johan den Dunnen 00152148
0000124492 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - no enzymatic activity Johan den Dunnen 00152149
0000124493 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - no enzyme activity Johan den Dunnen 00152150
0000124495 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - severly reduced enzyme activity Johan den Dunnen 00152152
0000124496 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 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 09y - - - - Johan den Dunnen 00152153
0000124498 - muscle-eye-brain disease MDDGA-3 Isolated (sporadic) - - - - - Johan den Dunnen 00152155
0000124500 see paper; ..., CPK 8019; intellectual disability (HP:0001249) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - no enzyme activity Johan den Dunnen 00152157
0000124502 - muscle-eye-brain disease MDDGA-3 Familial - - - - - Johan den Dunnen 00152159
0000124503 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152160
0000124504 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152161
0000124505 - muscle-eye-brain disease MDDGA-3 Isolated (sporadic) - - - - - Johan den Dunnen 00152162
0000124506 CPK 1567 muscle-eye-brain disease MDDGA-3 Isolated (sporadic) - - - - WB no DAG1 Johan den Dunnen 00152163
0000124507 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 02y - - - severly reduced enzyme activity Johan den Dunnen 00152164
0000124508 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Johan den Dunnen 00152165
0000124535 seizures, epilepsy, brain lissencephaly; CPK 572; intellectual disability (HP:0001249); onset neonatal; no motor ability muscle-eye-brain disease MDDGA-3 Isolated (sporadic) - - - - - Rosário dos Santos 00152192
0000124536 brain MRI changes; CPK 1200; moderate intellectual disability (HP:0002342); onset neonatal; able to sit with support muscle-eye-brain disease MDDGA-3 Isolated (sporadic) - - - - - Rosário dos Santos 00152193
0000124538 tonic clonic seizures; CPK 2600 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 01y03m - <00y00m00d - - Rosário dos Santos 00152195
0000124539 tonic clonic seizures, hydrocephaly, brain MRI changes, gallbladder hydrops; CPK 1600; onset neonatal muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 00y03m - - - - Rosário dos Santos 00152196
0000124540 tonic clonic seizures, hydrocephaly, brain MRI changes, autistic behaviour; CPK 724 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 16y - <00y00m00d congenital hydrocephaly - Rosário dos Santos 00152197
0000124541 spastic tetraparesis, no seizures, hydrocephaly, polymicrogyria; CPK increased; able to sit with support muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 04y06m - - - - Rosário dos Santos 00152198
0000124542 CPK 190; onset neonatal; no motor ability muscle-eye-brain disease MDDGA-3 Isolated (sporadic) - - - - - Rosário dos Santos 00152199
0000124543 seizures, severe hydrocephaly, brain changes; CPK 1000; onset neonatal; able to sit with support muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 02y - - - - Rosário dos Santos 00152200
0000124544 seizures, hydrocephaly,cerebellar cysts; CPK 1950; mild intellectual disability (HP:0001256); onset neonatal dystrophy, muscular, congenital MDDGA-3 Familial, autosomal recessive 05y - - - reduced DAG1 Rosário dos Santos 00152201
0000124545 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Tom Winder 00152202
0000124546 - muscle-eye-brain disease MDDGA-3 Isolated (sporadic) - - - - - Tom Winder 00152203
0000124547 congenital glaucoma, hydrocephalus; CPK elevated muscle-eye-brain disease MDDGA-3 Unknown - - - - - Tom Winder 00152204
0000124549 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Tom Winder 00152206
0000124552 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 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 08y - 00y00m00d macrocephalic, right microphthalmia, hypertrophy retina, left megalocornea, severe myopia - Johan den Dunnen 00152209
0000124553 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 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 08y - 00y00m00d swallowing difficulties WB no DAG1 Johan den Dunnen 00152210
0000124554 - muscle-eye-brain disease MDDGA-3 Unknown - - - - - Tom Winder 00152211
0000124575 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Tom Winder 00152232
0000124678 - muscle-eye-brain disease MDDGA-1 Isolated (sporadic) - - - - - Judith Pagan 00152335
0000124778 atypical phenotype; CPK 10x muscle-eye-brain disease MDDGA-2 Isolated (sporadic) - - 0y - - Johan den Dunnen 00152435
0000124817 - muscle-eye-brain disease MDDGA-2 Isolated (sporadic) - - - - - Judith Pagan 00152474
0000125500 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Johan den Dunnen 00095185
0000125501 microcephaly, spastic tetraparesis, max. motor achievement head control, rounded forehead, thin lips, short neck, micrognathia, retinopathy, severe mental retardation, CPK 1576 UI/l muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 02y06m - - - - Johan den Dunnen 00152539
0000125504 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 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 17y - - - - Johan den Dunnen 00152542
0000125505 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 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 09y - - - - Johan den Dunnen 00152543
0000125506 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Johan den Dunnen 00152544
0000125507 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 03y08m - - - - Johan den Dunnen 00152545
0000125508 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 06y - 01y - - Johan den Dunnen 00152546
0000125509 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 02y03m - - - - Johan den Dunnen 00152547
0000125510 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 00y08m - - congenital blindness, motor retardation - Johan den Dunnen 00152548
0000125511 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 15y - - mild developmental delay, paleness optic nerve - Johan den Dunnen 00152549
0000125512 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 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 19y - - - - Johan den Dunnen 00152550
0000125513 see paper; ..., classical MEB associated, marked hydrocephalus muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 08y - - - - Johan den Dunnen 00152551
0000125514 see paper; ..., infatile spasms, hydrocephaly, brain MRI changes; CPK 550; onset neonatal muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 02y07m - - - - Johan den Dunnen 00152552
0000125515 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 03y - - - - Johan den Dunnen 00152553
0000125516 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 15y - - - - Johan den Dunnen 00152554
0000125517 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 02y - - - - Johan den Dunnen 00152555
0000125518 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 05y - - - - Johan den Dunnen 00152556
0000125519 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 05y - - - - Johan den Dunnen 00152557
0000125520 CK 2500 IU/l muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 09y - - - - Johan den Dunnen 00152558
0000125521 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 07y - - - - Johan den Dunnen 00152559
0000125522 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 09y - - - - Johan den Dunnen 00152560
0000125523 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 12y - - - - Johan den Dunnen 00152561
0000125524 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) muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 06y - - - - Johan den Dunnen 00152562
0000125525 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 01y08m - - - - Johan den Dunnen 00152563
0000125526 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 muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 00y11m - - - - Johan den Dunnen 00152564
0000125527 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Johan den Dunnen 00152565
0000125528 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive - - - - - Johan den Dunnen 00152566
0000125529 - muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 01y - - - - Johan den Dunnen 00152567
0000125536 see paper; ... muscle-eye-brain disease MDDGA-3 Familial, autosomal recessive 12y - - - - Johan den Dunnen 00152574
0000125561 no microcephaly, myopia; CPK 400; intellectual disability muscle-eye-brain disease MDDGA-6 Unknown - - - - - Johan den Dunnen 00152632
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