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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
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
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... OMIM:619531
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Elevated circulating alkaline phosphatase concentration, Mus... OMIM:615426
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... OMIM:600334
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Retinal dysplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... OMIM:601846
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim... OMIM:254130
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Cerebellar cyst, Retinal detachment, Dandy-Walker malformation, Hydrocephalus... OMIM:613153
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Ventricul... OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Muscular dystrophy, Cerebellar cyst, Hypoplasia of the pons, Cerebellar hypoplasia... OMIM:613151
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Cerebellar cyst, Muscular dystrophy, Retinal detachment, ... ORPHA:370959
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Retinal dystrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Calf muscle h... OMIM:613155
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... OMIM:604286
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration, Muscle fiber inclusion bodies, Rimmed va... OMIM:615424
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Dpm3-Cdg
Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Calf muscle hypertro... ORPHA:263494
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Muscular dystrophy, Retinal dysplasia, Hydrocephalus, C... ORPHA:324416
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Muscle fiber necros... OMIM:271150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Muscular dystrophy, Aplasia of the inferior half of the cerebellar vermis, Retinal... OMIM:613154
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Hypoplasia of the brainstem, Lateral ventricle dilatation OMIM:618266
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a... ORPHA:34515
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Distal lower limb muscle weakness, Calf muscle hypertrophy, Quadriceps muscle... OMIM:613319
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Retinal dysplasia OMIM:615041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Quadrice... OMIM:611307
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Facial palsy, Scapular winging, Foot dorsiflexor weakness, Pelvic girdle muscle weakness, Scapulo... OMIM:158901
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased circulating lactate dehydrogenase concen... OMIM:614321
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Limb-gird... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Flexion contracture, P... OMIM:603511
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration, Spina bifida OMIM:311000
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Cerebellar cyst, Fatty replacement of skeletal muscle, Limb-girdle muscle atr... ORPHA:370980
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, C... OMIM:615181
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Distal amyotrophy, Spinal muscular atrophy, Congenital contracture, Hypopl... OMIM:607596
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Joint contr... OMIM:610099
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Muscular dystrophy, Ankle flexion contracture, Calf muscle hypertrophy, Elbow flexion contracture... ORPHA:267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Cerebellar vermis hypoplasia, Skeletal muscle hypertrophy, Facial palsy, Flex... OMIM:613156
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle... OMIM:609308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Cerebellar atrophy, Dystonia, Lateral ventricle dilatation, Hand... OMIM:615889
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia OMIM:123155
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Leg muscle stiffness, L... OMIM:608810
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Retinal dysplasia, Hydrocephalus, Hypoglycosylation of alpha-d... ORPHA:272
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy, Lateral ventricle dilata... ORPHA:77299
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Cach Syndrome
Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Cerebellar vermis atrophy, ... ORPHA:135
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Facial palsy, Pectoralis amyotrophy, Sternocleidomastoid amyotrophy, Generali... OMIM:604801
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Central core regions in muscle fibers, Resting tremor, Peripheral axonal neuropath... ORPHA:401768
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Tented upper lip vermilion, Lateral ventricle dilatation, Pa... OMIM:619517
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Muscular dystrophy, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:181350
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle weakness, Centr... ORPHA:86812
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Open mouth, Lateral ventricle dilatation OMIM:616816
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Calf muscle hypertrophy, Proximal amyotrophy, Scapular winging OMIM:601287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Cerebellar cyst, Calf muscle hypertrophy, Facial palsy, Cerebellar atrophy, E... OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness OMIM:616094
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Retinal telangiectasia, Calf muscle hypertrophy, Facial palsy,... OMIM:158900
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy OMIM:601553
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... ORPHA:598
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Hyperglycemia, Type II diabetes mellitus, Pigmentary retinopathy OMIM:520000
Walker-Warburg Syndrome
Optic atrophy, Muscular dystrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Dand... ORPHA:899
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Tongue fasciculations, Cerebellar atrophy, Hypoplasia of the pons, Dy... OMIM:618276
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy OMIM:254100
Dandy-Walker Syndrome
Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebe... OMIM:220200
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons, Agenesis of corpus cal... ORPHA:300573
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Pigmentary retinopathy OMIM:609016
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... OMIM:608161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow flexion contractu... OMIM:608840
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness OMIM:615352
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Muscle eosinophilia, Myositis, Facial palsy, Scapular winging, Proximal amyot... OMIM:253600
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
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
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypopl... OMIM:619301
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscle fiber atrophy... ORPHA:369840
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Myasthenic Syndrome, Congenital, 14
Weakness of facial musculature, Ragged-red muscle fibers, High palate, Scapular winging, Muscle f... OMIM:616228
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Muscular dystrophy, Pontocerebellar atrophy, Ankle flexion contracture, High, narr... OMIM:608799
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating hepatic transaminase concentration, Rimmed vacuoles, Increased variability i... OMIM:612937
Joubert Syndrome 3
Retinal dystrophy, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged... OMIM:608629
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons, Agenesis of corpus callo... OMIM:618736
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Skeletal muscle atrophy, Macroglossia, Triangular to... OMIM:616827
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Adams-Oliver Syndrome 2
Optic atrophy, Limb hypertonia, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation... OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Hydrocephalus, Flexion contracture, Agenesis of corpus callosum, Cerebellar h... OMIM:615249
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Increased variability in muscle fiber diameter... OMIM:620542
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... OMIM:611588
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydr... ORPHA:1532
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypoplasia of the brainstem, P... OMIM:619302
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Achilles tendon contracture ORPHA:62
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Bardet-Biedl Syndrome 2
Retinal degeneration, Diabetes mellitus, Rod-cone dystrophy OMIM:615981
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Cerebellar cyst, Retinal dysplasia, Encephalocele, Retinal det... OMIM:253800
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Myopathy, Scapulohumeroperoneal
Facial palsy, Scapular winging, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of the pons, Cleft palate... OMIM:615350
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypoglycosyla... ORPHA:370968
Martsolf Syndrome 2
Camptodactyly of finger, Hypogonadotropic hypogonadism, Camptodactyly, Lateral ventricle dilatation OMIM:619420
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Tongue fasciculations, Centrally nucleated skeletal muscle fibe... OMIM:618823
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... ORPHA:603
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Dilated fourth ventricle, Downturned corners of mouth, Lobulated tongue, Lateral ... OMIM:613443
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Marinesco-Sjögren Syndrome
Optic atrophy, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeleta... ORPHA:559
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Limb mus... OMIM:619473
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar hypoplasia ORPHA:352682
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Joint contracture, Elbow flexion contracture, Generalized amyotrophy OMIM:616516
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventricle dilatation,... ORPHA:3078
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Congenital Myopathy 18
High palate, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle ... OMIM:620246
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cere... OMIM:617751
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Cerebellar cyst, Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, C... OMIM:613150
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Marinesco-Sjogren Syndrome
Cerebellar cortical atrophy, Rimmed vacuoles, Cerebellar atrophy, Hypergonadotropic hypogonadism,... OMIM:248800
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Dpm1-Cdg
Optic atrophy, Muscular dystrophy, Pontocerebellar atrophy, High, narrow palate, Abnormal dentate... ORPHA:79322
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Intellectual Developmental Disorder, Autosomal Dominant 56
Hypomimic face, Pontocerebellar atrophy, High palate, Dystonia, Open mouth, Lateral ventricle dil... OMIM:617854
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Leg dystonia, Limb hypertonia, Congenital foot contractures,... ORPHA:565624
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Congenital Myopathy 20
Scapular winging, High palate, Nemaline bodies, Congenital contracture, Increased variability in ... OMIM:620310
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Distal amyotrophy, Facial palsy, Abnormal cerebellum morphology, Decre... OMIM:256850
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, High palate, Limb dyst... ORPHA:572798
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Increased CSF lactate, Gliosis, Abnormal CSF pyruvate family amino acid concentr... ORPHA:79243
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... OMIM:300696
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Reduce... ORPHA:309169
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Muscular dystrophy, Retinal dysplasia, Retinal detachment... OMIM:236670
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration, Vascular granular osmiophilic material... OMIM:256730
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Lateral ventricle dilatation OMIM:618890
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Nephronophthisis 14
Retinal degeneration OMIM:614844
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Cerebellar vermis hypoplasia, Arthrogryposis multiplex congenita, Skeletal ... OMIM:618291
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Retinal dysplasia, Encephalocele, Retinal detachment, Dandy-Walker malformati... OMIM:614643
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Weakness of faci... OMIM:620265
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating hepatic transaminase concentration, Muscle fiber necrosis, Increased circula... OMIM:620138
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Hamstring contrac... OMIM:613205
Myopathy, Myofibrillar, 6
Muscular dystrophy, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Myofibrillar my... OMIM:612954
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short philtrum, High palate, Dystonia, Tented upper lip vermilion, Lateral ventricle dilatation, ... OMIM:614105
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Cerebellar cyst, Retinal dystrophy, Cerebellar vermis hypoplasia, Hydrocephal... OMIM:616538
Bethlem Muscular Dystrophy
Muscular dystrophy, Ankle flexion contracture, Reduced muscle collagen VI, Elbow flexion contract... ORPHA:610
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Macular Degeneration, Age-Related, 3
Macular degeneration, Drusen, Choroidal neovascularization OMIM:608895
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cerebellar vermis hypoplasia, Limb joint contracture, Lateral ventricl... ORPHA:284417
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy OMIM:613869
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Cerebellar atrophy, Agenesis of corpus callosum,... OMIM:616602
Pontocerebellar Hypoplasia, Type 13
Short philtrum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, High palate, Hypoplasia ... OMIM:618606
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs OMIM:616209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ileal atresia, Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dy... OMIM:615351
Merrf
Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Ragged-red muscle fibers, Optic neuritis, Sensory axonal neuropathy, Cerebellar at... ORPHA:254886
Nephronophthisis 15
Retinal degeneration OMIM:614845
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Lateral ventricle dilatation ORPHA:306669
Congenital Myopathy 4A, Autosomal Dominant
High palate, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleat... OMIM:255310
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, High palate, Type 1 fibers relatively smaller than type 2 fibers... ORPHA:596
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:618484
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... OMIM:603689
Malan Overgrowth Syndrome
Optic disc hypoplasia, Narrow mouth, High palate, Lateral ventricle dilatation, Ventriculomegaly,... ORPHA:420179
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Calf muscle hypertrophy, High palate, EMG: myopathic abnormalities, ... OMIM:255160
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Pa... OMIM:304100
Eales Disease
Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300718
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal lower limb muscle w... OMIM:620068
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Myopathy, Centronuclear, 2
High palate, Facial palsy, EMG: myopathic abnormalities, Scapular winging, Generalized amyotrophy... OMIM:255200
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... OMIM:615191
Myoclonus, Intractable, Neonatal
Dandy-Walker malformation, Increased variability in muscle fiber diameter, Athetosis, Optic disc ... OMIM:617235
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:617406
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle ... ORPHA:486815
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Hypoglycemia OMIM:300438
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Limb hypertonia, Short philtrum, Dental crowding, Dilated third ventricle,... OMIM:617296
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Classic Multiminicore Myopathy
Muscular dystrophy, Generalized amyotrophy, Muscle fiber atrophy, Right ventricular hypertrophy, ... ORPHA:324604
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
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
Premature ovarian insufficiency, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Ske... OMIM:619518
Muscular Dystrophy, Congenital, Megaconial Type
Increased endomysial connective tissue, Muscular dystrophy, Facial palsy, Myopathy OMIM:602541
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... OMIM:618414
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Joint contracture of the 5th finger, High palate, Scapular... OMIM:617258
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Sensory axonal neuropathy, Secondary amenorrhea, Facial ... OMIM:258450
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy, Patent ductus arteriosus OMIM:615147
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Agenesis of corpus callosum, Midline brainstem cleft, Hydrocephalus OMIM:617542
Myopathy, Centronuclear, 5
Narrow mouth, High palate, Centrally nucleated skeletal muscle fibers, Bifid uvula, Hip contractu... OMIM:615959
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Facial palsy, High palate, Scapular winging, Narrow mouth, Generalized amyotroph... ORPHA:169186
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Narrow m... ORPHA:324581
Congenital Hydrocephalus
Optic atrophy, Hydrocephalus, Colpocephaly, Ventriculomegaly, Macular hypoplasia ORPHA:2185
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Hypogonadism ORPHA:1875
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Cerebellar hypoplasia, Colpocephaly, Limb hypertonia ORPHA:401815
King-Denborough Syndrome
High palate, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weakness of facial... OMIM:619542
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Abnormality of pattern visual evoked potentials, Orthostatic hyp... ORPHA:2822
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Thin upper lip vermilion, Lateral ventricle dilatation OMIM:618330
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Facial palsy, High palate, EMG: myopathic abnormalities, Muscle fiber necr... OMIM:614399
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Cerebellar atrophy, Thin upper lip ... ORPHA:488635
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia,... ORPHA:300570
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Dystonia, Lateral ventricle dilatation OMIM:617668
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Spastic Paraplegia Type 7
Optic atrophy, Ragged-red muscle fibers, Cerebellar atrophy, Upper limb muscle weakness, Lower li... ORPHA:99013
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Ragged-red muscle fibers, Dental crowding, High palate, Scapular w... OMIM:620351
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Limb muscle weakness OMIM:164300
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... OMIM:619790
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Hyperglycemia, Ret... OMIM:615986
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis, Lateral ventricle dilatation OMIM:221770
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebellar cortical atrophy, Sensory axonal neuropathy, Distal amyotrophy, Athetos... OMIM:271245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Occipital encephalocele, Muscular dystrophy, Anencephaly, Retinal dysplasi... OMIM:615287
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Tongue fasciculations,... ORPHA:238329
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Muscular dystrophy, Myopathy, Lower limb muscle weakness OMIM:615980
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Retinal hemorrhage, Congenital contracture, Centrally nuclea... OMIM:615368
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Kleeblattschaedel
Hydrocephalus OMIM:148800
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Retinoschisis OMIM:610542
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... OMIM:617114
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Cerebellar atrophy, Agenesis of corpus callos... OMIM:617622
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618174
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
Glutamine Deficiency, Congenital
Thin vermilion border, Subependymal cysts, Camptodactyly, Flexion contracture, Lateral ventricle ... OMIM:610015
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... OMIM:613752
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... ORPHA:397715
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Tremor, High palate, Pigmentary retinopathy, EMG: myopathic ab... ORPHA:502423
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Stroke, Cone/cone-rod dystrophy, Retinal degeneration, Diabetes mellitus OMIM:249270
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Hydrocephalus, Cerebellar atrophy, Dystonia, Colpocephaly, Ventriculomegaly, Chore... OMIM:616034
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Glossoptosis, Cerebellar atrophy, Camptodactyly, High palate, Narro... OMIM:611209
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg... OMIM:617302
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin, Distal amyotrophy, Rimmed vacuoles, Scapular wingin... OMIM:167320
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Calf muscle hypertrophy, A... ORPHA:169189
Myopathy, Distal, 1
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am... OMIM:160500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Cleft palate, Tented upper lip vermilion, Thin upper lip vermilion, Lateral ventricle dilatation OMIM:615716
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Chiari malformation ORPHA:261102
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Dandy-Walker malformation, Cerebellar atrophy, Abno... ORPHA:356961
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy OMIM:605808
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology ORPHA:324422
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,... ORPHA:171439
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Dystonia, Lateral ventricle dilatation ORPHA:208447
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Pelv... OMIM:607155
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Sensory axonal neuropathy, Peripheral ax... OMIM:607459
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopathic abnormalities, Weakness of the i... ORPHA:399086
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:75840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa... OMIM:620161
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature OMIM:617069
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... OMIM:608340
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Cerebellar atrophy, Skeletal muscle atrophy, Agenesis of... OMIM:616239
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Abnormality of retinal pigmentation, Skeletal muscle atrophy ORPHA:480
Neu-Laxova Syndrome
Muscular dystrophy, Ventriculomegaly, Dandy-Walker malformation, Abnormality of the philtrum, Apl... ORPHA:2671
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Dystonia, Flexio... 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
Alexander Disease
Hydrocephalus, Abnormal dentate nucleus morphology, Increased CSF protein concentration OMIM:203450
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Cerebella... OMIM:225790
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Tented upper lip vermilion, S... OMIM:620075
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hydroceph... ORPHA:163961
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, High palate, Lateral ventricle dilatation, Intention tremor OMIM:619995
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Peroxisome Biogenesis Disorder 6A (Zellweger)