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Gene: Pomgnt1 MGI:1915523

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
Synonyms:
0610016I07Rik,  4930467B06Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pomgnt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Pomgnt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Stargardt Disease 3
Macular flecks, Macular atrophy, Macular dystrophy OMIM:600110
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration, Muscle fiber inclusion bodies, Rimmed va... OMIM:615426
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Muscular dystrophy, Congenital muscular d... OMIM:613151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Cerebellar hypoplasia, Muscular dystrophy, Hydrocephalus, Retinal dysplasia OMIM:614830
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... OMIM:254130
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... OMIM:604213
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Cerebellar dysplasia, Calf muscle hypertrophy, Muscular dystrophy, Cerebella... OMIM:613155
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Muscular dystrophy, Cerebellar cys... OMIM:613153
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Elevated hepatic transaminase, Pelvic girdle muscle ... ORPHA:263494
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Eleva... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Calf muscle pseudohypertrophy, Shoulder girdle m... OMIM:604286
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Cone-Rod Dystrophy 11
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dilated third ventricle, Flexion contracture, Ventriculomegaly, Optic atrophy, Lateral ventricle ... OMIM:613154
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:618266
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Neural tube defect OMIM:615041
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... OMIM:611307
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia ORPHA:2703
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Distal lower limb muscle ... OMIM:613319
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Scap... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... OMIM:619566
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Ventriculomegaly, Cerebellar hypoplasia, Muscular dystrophy, Congenital musc... OMIM:613156
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... ORPHA:611
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... OMIM:610099
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the ventral pons, Spinal muscular atrophy, Lateral ventricle dilatation, Cerebellar... OMIM:607596
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Congenital Muscular Dystrophy Without Intellectual Disability
Fatty replacement of skeletal muscle, Ventriculomegaly, Congenital muscular dystrophy, Achilles t... ORPHA:370980
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Lower lim... ORPHA:267
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar hypoplasia, Muscular dystrophy, Cerebellar cyst, Hydrocephalus, ... OMIM:615181
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, O... ORPHA:370959
Ophthalmoplegia, External, And Myopia
Spina bifida, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia OMIM:123155
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Congenital muscular dystrophy, Cerebellar malformation, Hydrocephalus, Retinal ... ORPHA:324416
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness OMIM:310095
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency, Hand tremor, Cerebellar atrophy, D... OMIM:615889
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... OMIM:605820
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Band Heterotopia
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Ventriculomegaly, Optic atrophy, Muscular dystrophy... ORPHA:272
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Cach Syndrome
Flexion contracture, Cerebellar vermis atrophy, Optic atrophy, Secondary amenorrhea, Premature ov... ORPHA:135
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Myopathy, Distal, 5
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... OMIM:617030
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem... ORPHA:77299
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Muscular Dystrophy, Congenital, 1B
Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Limb-girdle muscle weakness, Distal lower limb amyotrophy, Muscular dyst... OMIM:181350
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... OMIM:220200
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Open mouth, Myopathy, Lateral ventricle dilatation OMIM:616816
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Retinal pigment epithelial mot... OMIM:619517
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal amyotrophy, Scapular winging, Calf muscle hypertrophy OMIM:601287
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia ORPHA:1538
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:613862
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness OMIM:616094
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... OMIM:614302
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... OMIM:613157
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Facioscapulohumeral Muscular Dystrophy 1
Calf muscle hypertrophy, Tongue atrophy, Retinal telangiectasia, Scapulohumeral muscular dystroph... OMIM:158900
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Optic... ORPHA:401768
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Motor axonal neuropathy, Type 1 muscle fiber predominance, Hypoplasia of the pons, Skeletal muscl... OMIM:618276
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Lateral ventricle dilatation, Hypoplasia of the pons, Cerebellar a... ORPHA:300573
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Walker-Warburg Syndrome
Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Muscular dystrophy, Abnormal cerebellar v... ORPHA:899
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Retinal degeneration, Pigmentary retinopathy, Type II diabetes mellitus OMIM:520000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Cerebellar hypoplasia... OMIM:608840
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan OMIM:615352
Multiminicore Myopathy
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... ORPHA:598
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Elevated hepatic transaminase, Myopathy, Limb-gir... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Myositi... OMIM:253600
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613723
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... OMIM:608161
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ... OMIM:618736
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cerebellar hypoplasia, Muscular dystrophy, Hypoplasia of the pons, Cleft palate, Hypoglycosylatio... OMIM:615350
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Retinopathy, Abnormal macular morphology, Optic atrophy, Muscular dystr... OMIM:608799
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture OMIM:609308
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... OMIM:619042
Joubert Syndrome 3
Lateral ventricle dilatation, Elongated superior cerebellar peduncle, Retinal dystrophy, Open mou... OMIM:608629
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atr... OMIM:616827
Myopathy, Centronuclear, 1
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... OMIM:160150
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Myopathy, Facial palsy OMIM:602541
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Cerebellar hypoplasia, Muscular dystrophy, Retinal degeneration, Hydrocephal... OMIM:615249
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Scapular winging, Achilles tendon contracture, Calf muscle pseudohypertrophy ORPHA:62
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corpus... OMIM:619302
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Limb hypertonia, Cerebellar hypoplasia, Optic atrophy, Lateral ventricle di... OMIM:614219
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Ventriculomegaly, Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contrac... OMIM:606612
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... OMIM:616852
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... OMIM:608358
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Congenital Muscular Dystrophy With Intellectual Disability
Limb-girdle muscle weakness, Multiple joint contractures, Ventriculomegaly, Calf muscle hypertrop... ORPHA:370968
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation, Short... OMIM:613443
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Abnormal brainstem morphology, Cerebellar vermis h... ORPHA:1532
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Camptodactyly of finger, Camptodactyly, Lateral ventricle dilatation OMIM:619420
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... OMIM:617967
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... OMIM:123320
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:352682
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... OMIM:613750
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Joint contracture, Generalized amyotrophy OMIM:616516
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Generalized amyotrophy, Congenital muscular dystrophy, Achilles tendon contractu... OMIM:613205
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Contractures of the large joints, Optic atrophy, Lateral ventricle dila... ORPHA:3078
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy, Diabetes mellitus OMIM:615981
Marinesco-Sjögren Syndrome
Hypogonadism, Optic atrophy, Muscular dystrophy, Cerebellar hypoplasia, Abnormal cerebellar vermi... ORPHA:559
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:602771
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture OMIM:607855
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro... OMIM:500002
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar dysplasia, Hypoplasia of the brainstem, Lateral ventricle di... OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 56
High palate, Long philtrum, Lateral ventricle dilatation, Hypomimic face, Thin upper lip vermilio... OMIM:617854
Distal Myopathy With Anterior Tibial Onset
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... ORPHA:178400
Marinesco-Sjogren Syndrome
Flexion contracture, Cerebellar cortical atrophy, Centrally nucleated skeletal muscle fibers, Myo... OMIM:248800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy OMIM:611588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Cleft upper lip, Cerebellar dysplasia, Encephaloc... OMIM:613150
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Abnormal cerebellum morphology, Lateral v... OMIM:256850
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... OMIM:300696
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:437572
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Dpm1-Cdg
Knee flexion contracture, Abnormal dentate nucleus morphology, Retinopathy, Ventriculomegaly, Opt... ORPHA:79322
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Rhabdomyolysis, Centrally nucleated skeletal musc... OMIM:620138
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar cyst, Cerebella... ORPHA:79243
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Rod-cone dystrophy, High palate, Ventriculomegaly, Limb hypertonia, Gen... ORPHA:572798
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex OMIM:616517
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Ce... OMIM:304100
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300717
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... OMIM:616470
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Lateral ventricle dilatation, Retinal pigment epithelial mottling, Sh... OMIM:614105
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Limb hypertonia, Lateral ventricle dilatation, Abnormal cerebellum ... ORPHA:565624
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy ORPHA:1878
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Congenital Myopathy 5 With Cardiomyopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:611705
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Sensory axonal neuropathy, Tremor, Focal dystonia, Proximal muscle weakness... ORPHA:309169
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a... ORPHA:2926
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Multiple joint contractures, Lateral ventricle dilatation, Cerebellar hypopl... OMIM:618291
Achromatopsia
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Optic atrophy OMIM:204200
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Cerebellar hypoplasia, Muscular dystrophy, Hydrocephalus, Optic ... OMIM:614643
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Weakness of facial musculature, Distal lower limb musc... ORPHA:457050
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy OMIM:613869
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, EMG: myopathic abnormalities, Increased intramuscular... ORPHA:276435
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Cerebellar atrophy... OMIM:616602
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Knee flexion contracture, Lateral ventricle dilatation, Limb joint contracture, Ankle flexion con... ORPHA:284417
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Muscle fiber atrophy, Optic atrophy, Optic neuritis, Sensory axonal ... ORPHA:254886
Nephronophthisis 14
Retinal degeneration OMIM:614844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Encephalocele, Optic atrophy, Calf muscle hype... OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Ventriculomegaly, Muscular dystrophy, Retinal dys... OMIM:616538
Bethlem Myopathy
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300718
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Optic disc pallor, Dandy-Walker malformation, Ath... OMIM:617235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cerebellar hypoplasia, Muscular dystrophy, Joint contracture, Generalized limb muscle atrophy, Il... OMIM:615351
Pontocerebellar Hypoplasia, Type 13
Thick upper lip vermilion, High palate, Lateral ventricle dilatation, Volvulus, Short philtrum, D... OMIM:618606
Myopathy, Myofibrillar, 6
Knee flexion contracture, Myofibrillar myopathy, Generalized amyotrophy, Lower limb muscle weakne... OMIM:612954
X-Linked Centronuclear Myopathy
High palate, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than ty... ORPHA:596
Macular Degeneration, Age-Related, 3
Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... OMIM:304020
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Lateral ventricle dilatation ORPHA:306669
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Congenital Myopathy 4A, Autosomal Dominant
High palate, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than ty... OMIM:255310
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Malan Overgrowth Syndrome
High palate, Ventriculomegaly, Lateral ventricle dilatation, Optic disc hypoplasia, Narrow mouth,... ORPHA:420179
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Lissencephaly 5
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Hydrocephalus, Occipital encephalo... OMIM:615191
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, High palate, Centrally nucleated skeletal muscle fibers, Calf muscle... OMIM:255160
Myopathy, Centronuclear, 2
Flexion contracture, High palate, Centrally nucleated skeletal muscle fibers, Generalized amyotro... OMIM:255200
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Lower limb muscle weakness, Decreased motor nerve conduction veloci... OMIM:620068
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... OMIM:603689
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, High palate, Centrally nucleated skeletal muscle ... ORPHA:486815
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:602271
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Nephronophthisis 15
Retinal degeneration OMIM:614845
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Optic atrophy, Secondary am... OMIM:258450
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Dilated third ventricle, Limb hypertonia, Lateral ventricle dilatation, Sh... OMIM:617296
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Lateral ventricle dilatation, Lower limb muscle ... ORPHA:2822
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Premature ovarian insufficiency, Female infertility, ... OMIM:619518
Polymicrogyria With Optic Nerve Hypoplasia
Agenesis of corpus callosum, Hypoplasia of the brainstem, Dysplastic corpus callosum, Colpocephaly ORPHA:250972
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Congenital Hydrocephalus
Ventriculomegaly, Optic atrophy, Macular hypoplasia, Hydrocephalus, Colpocephaly ORPHA:2185
Autosomal Recessive Centronuclear Myopathy
High palate, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Hip contracture,... ORPHA:169186
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, High palate, Bifid uvula, Weakness o... OMIM:615959
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Elevated hepatic transaminase, Myopathy, Limb-girdle mu... ORPHA:369840
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Centrally nucleated skeletal muscle fibers, Generalized amyotro... OMIM:617258
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Narrow mouth, Centrally nucleated skeletal muscle fi... ORPHA:324581
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia OMIM:619111
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... OMIM:125250
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Lower limb amyotrophy, Limb hypertonia, Colpocephaly ORPHA:401815
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Progressive distal muscular atrophy, Distal lower limb muscle weakness ORPHA:459033
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Cerebellar dysplasia, Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Re... OMIM:236670
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Hypogonadism ORPHA:1875
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
King-Denborough Syndrome
High palate, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Deep philtrum, Typ... OMIM:619542
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex OMIM:615147
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... OMIM:619790
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, High palate, Diaphragmat... OMIM:614399
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Normal pressure hydrocephalus, Lateral ventricle dilatation, Cerebellar hypoplasia, ... ORPHA:300570
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Oligodontia, Lateral ventricle dilatation OMIM:618330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Cerebellar hemisphere hypoplasia, Ventriculomegaly, Cerebellar hypoplasia,... OMIM:615287
Spastic Paraplegia Type 7
Lower limb muscle weakness, Optic atrophy, Upper limb muscle weakness, Cerebellar atrophy, Optic ... ORPHA:99013
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Thin upper lip vermilion, Abnormal lateral ventricle morphology, Cerebellar h... ORPHA:488635
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Dystonia, Lateral ventricle dilatation OMIM:617668
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar cortical atrophy, Optic atrophy, Athetosis, Sensory axonal neuropathy, Hypergonadotrop... OMIM:271245
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Hsd10 Mitochondrial Disease
Retinal degeneration, Hypoglycemia, Optic atrophy OMIM:300438
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis, Lateral ventricle dilatation OMIM:221770
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... OMIM:617114
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Increased variability in muscle fiber diameter, Sensory axonal neuropathy,... ORPHA:238329
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Flexion contracture, Centrally nucleated skeletal muscle fibers, Decreased ne... OMIM:615368
Kleeblattschaedel
Hydrocephalus OMIM:148800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... OMIM:615422
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... OMIM:613752
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:615980
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... OMIM:145350
Glutamine Deficiency, Congenital
Flexion contracture, Lateral ventricle dilatation, Camptodactyly, Subependymal cysts, Thin vermil... OMIM:610015
Retinitis Pigmentosa 45
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:613767
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:2182
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia OMIM:617127
Oguchi Disease
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon ORPHA:75382
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin, Generalized amyotrophy, Shoulder girdle muscle weak... OMIM:167320
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... OMIM:606070
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... ORPHA:169189
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, High palate, Cerebellar hypoplasia, Increased int... ORPHA:502423
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Abnormal cerebellum morphology, Lateral ventricle dilatatio... ORPHA:397715
Classic Multiminicore Myopathy
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... ORPHA:324604
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities OMIM:609283
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Long philtrum, Lateral ventricle dilatation, Left ventricular... OMIM:611209
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus ... ORPHA:1528
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Cleft palate, Thin upper lip vermilion, Tented upper lip vermilion, Lateral ventricle dilatation OMIM:615716
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... OMIM:607459
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebellar vermis, Da... ORPHA:163961
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617069
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... OMIM:254090
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Optic Atrophy 11
Increased variability in muscle fiber diameter, Ventriculomegaly, Optic atrophy, Cerebellar hypop... OMIM:617302
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Diabetes mellitus, Stroke OMIM:249270
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities... ORPHA:171439
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Slc35A2-Cdg
Lateral ventricle dilatation, Abnormal midbrain morphology, Cerebellar atrophy, Atrophy/Degenerat... ORPHA:356961
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Dystonia, Lateral ventricle dilatation ORPHA:208447
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Weakness of facial musculature, Myopathy, Skeletal muscle atrophy, Cerebellar atro... OMIM:616239
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ragged-red muscle fibers ORPHA:480
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Optic atrophy, Abnormal mitochondria in muscle tissue, Increased intramyocel... OMIM:252011
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Increased variability in muscle fiber diameter, High palate, Cerebellar atrophy OMIM:617915
Alg13-Cdg
Abnormal lateral ventricle morphology, Long philtrum ORPHA:324422
Alexander Disease
Abnormal dentate nucleus morphology, Hydrocephalus, Increased CSF protein concentration OMIM:203450
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:613954
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy OMIM:307030
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Chiari malformation ORPHA:261102
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... OMIM:620161
Neu-Laxova Syndrome
Abnormality of the philtrum, Flexion contracture, Ventriculomegaly, Hypogonadism, Cerebellar hypo... ORPHA:2671
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Aicardi Syndrome
Cleft upper lip, Dilated third ventricle, Chiari malformation, Optic atrophy, Lateral ventricle d... OMIM:304050
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Congenital muscular dystrophy, Mac... ORPHA:258
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum... OMIM:225790
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Triceps weakness, Tremor, Intrinsic hand muscle atrop... OMIM:619574
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Intention tremor, Lateral ventricle dilatation, Lower limb hypertonia OMIM:619995
Mosaic Trisomy 1
Camptodactyly of finger, Short upper lip, Wide mouth, Lateral ventricle dilatation, Thick lower l... ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hypoplasia of the retina, Ventriculomegaly, Optic atrophy, Cerebellar hypop... OMIM:253280
Abetalipoproteinemia
Retinal degeneration, Retinopathy OMIM:200100
Spermatogenic Failure 17
Male infertility OMIM:617214
Paganini-Miozzo Syndrome
Thin vermilion border, Downturned corners of mouth, Lateral ventricle dilatation OMIM:301025
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Long philtrum, Wide mouth, Lateral ventricle dilatation, Thick lower lip vermilion, Everted lower... OMIM:620075
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... OMIM:270200
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cone-Rod Dystrophy 10
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Joubert Syndrome 30
Molar tooth sign on MRI, Ventriculomegaly, Superior cerebellar dysplasia, Cerebellar atrophy, Dan... OMIM:617622
Retinitis Pigmentosa 51
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Tongue fasciculations OMIM:300816
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... OMIM:300424
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Cerebellar dysplasia, Ventriculom... OMIM:616531
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Fa