Gene: Pomgnt1 MGI:1915523

Log in to follow
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 associated to Pomgnt1 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
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
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
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
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Muscular dystrophy, Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Muscular dystrophy, Flexion contracture, Ventriculomegaly, Retinal dysplas... OMIM:613154
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Muscular dystrophy, Ventriculomegaly, Cerebellar hypoplasia, Retinal dyspl... OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Hypoplasia of the corpus callosum, Muscular dystrophy, Congenital muscular dystroph... OMIM:613155
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Cerebellar cyst, Congenital muscular dystrophy, Muscular dystrophy, Ventriculomegaly, Cerebellar ... OMIM:613151
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration, Muscular dystrophy, Muscle fiber inclusi... OMIM:615426
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... OMIM:604213
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Mu... OMIM:613153
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Pachygyria, Proximal amyotrophy, Cerebellar cyst, Congenital muscul... ORPHA:370980
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Muscular dystrophy, Cerebellar hypoplasia, Cerebellar dys... OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Pigmentary retinopathy, Open mouth, Hypoplasia of the corpus callosum, Congenital m... OMIM:613156
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Resting tremor... ORPHA:401768
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal cerebellum morpho... ORPHA:329228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Dpm3-Cdg
Elevated hepatic transaminase, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles... ORPHA:263494
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Type II lissencephaly, Congenital muscular dystrophy, Ventriculomegaly, ... ORPHA:324416
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Muscular... OMIM:181350
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... ORPHA:34515
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Pelvic girdle muscle weakness, Facial palsy, Scapulohumeral muscular dystrophy,... OMIM:158901
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Muscul... ORPHA:272
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Pachygyria, Abnormal periventricular white matter mor... OMIM:608840
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... ORPHA:2703
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Atrophy/Degeneratio... ORPHA:77299
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Ventriculomegaly, Cerebellar hypoplasia... OMIM:615287
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Congenital muscular dystrophy, Hydrocephalus, Hypoplasia of the pons, Macr... ORPHA:370959
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles, Aplasia/Hypoplasia of... OMIM:300864
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Elevated circulating alkaline phosphatase concentration, Muscle f... OMIM:615424
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220200
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, Muscular dystrop... ORPHA:267
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Cach Syndrome
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Cerebral atrophy, Flexion contractur... ORPHA:135
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging OMIM:310095
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia of the corpu... ORPHA:370968
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Pachygyria, Proximal ... OMIM:606612
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Hypoplasia of the corpus callosum, Myopathy, Dilation of lateral ventricles, Increase... OMIM:616816
Miyoshi Muscular Dystrophy 3
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy OMIM:613319
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Congenital muscular dystrophy, Muscular dystrophy OMIM:613152
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Walker-Warburg Syndrome
Chorioretinal dysplasia, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:899
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Cerebellar hypoplasia, Hypoglycosylation of alpha-dystroglycan, Cleft palate,... OMIM:615350
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy OMIM:608807
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Cerebral atrophy, Cerebellar atrophy, Hypogonadotropic hypogonadism,... OMIM:212840
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Muscular dystrophy, Scapular winging, Proximal amyotrophy OMIM:601287
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... OMIM:615191
Autosomal Recessive Spastic Paraplegia Type 74
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Cerebellar atrophy, Distal lowe... ORPHA:468661
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... OMIM:608161
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Abnormal macular morphology, Muscular dystrophy, Camptodactyly, Pontocerebellar atrophy, ... OMIM:608799
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Ce... ORPHA:352682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Abnormal periventricular white matter morph... OMIM:618992
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Limb-girdle muscular dystrophy, Rimmed vacuoles, Myopathy, Increas... OMIM:612937
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Hypoplasia of the corpus callosum, Iron accumulation in substantia nigra... ORPHA:496756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Flexion contracture, Cerebellar hypopla... OMIM:615249
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, Shoulder girdle muscle weakness, Retinal telang... OMIM:158900
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy OMIM:250450
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Ragged-red muscle fibers, Abnormal retinal morphology, Ce... ORPHA:254886
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Corpus callosum atrophy, Open mouth, Drooling, Hypoplasia of the co... ORPHA:565624
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Marinesco-Sjögren Syndrome
Abnormal cerebellar vermis morphology, Muscular dystrophy, Cerebellar hypoplasia, Aplasia/Hypopla... ORPHA:559
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Leukoencephalopathy OMIM:253590
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Flexion contracture, Centrally nucleated skeletal muscle fibers, ... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613723
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Muscular dystrophy, Limb-girdle muscular dystrophy, Myopathy, Musc... ORPHA:369840
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... OMIM:601170
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Gliosis, Cerebellar cyst, Inc... ORPHA:79243
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture OMIM:609308
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Severe X-Linked Intellectual Disability, Gustavson Type
Cerebellar hypoplasia, Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly, Co... ORPHA:3078
Muscular Dystrophy, Congenital, Lmna-Related
Congenital muscular dystrophy, Flexion contracture, Generalized amyotrophy OMIM:613205
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Congenital muscular dystrophy, Muscular dystrophy, Facial palsy OMIM:602541
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Nescav Syndrome
Flexion contracture, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Peripheral ... OMIM:614255
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Vascular dilatation, Retinal degeneration OMIM:225755
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cer... ORPHA:572798
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Triangular tongue, Skeletal muscle atrophy, Calf muscle hypertr... OMIM:616827
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture ORPHA:62
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Cerebellar hypoplasia, Hy... OMIM:615351
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612999
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Hypointensity of cerebral white matter on MRI, Congenital muscular dystrophy, Increased endomysia... OMIM:607855
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydr... ORPHA:1532
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Retinal dystrophy OMIM:615147
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Skeletal muscle atrophy, Tongue fasciculations, Abnormal corpus striat... ORPHA:238329
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, T... OMIM:618823
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ankle flexion contracture, Cereb... ORPHA:284417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar cyst, Hypoplasia of the corpus callosum, Muscular dystrophy, Cerebellar vermis hypopla... OMIM:616538
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615352
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis ... OMIM:304100
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal cerebellar vermis morphology, Type II lissencephaly, Congenital fibrosis of extraocular ... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy OMIM:616094
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia, Dilation of lateral vent... OMIM:618890
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Hypoplasia of the corpus callosum, Cerebellar atrophy, Distal amyotrophy... OMIM:617207
Spastic Paraplegia Type 7
Abnormal cerebral white matter morphology, Lower limb hypertonia, Lower limb muscle weakness, Cer... ORPHA:99013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Pachygyria, Type II lissencephaly, Hypoplasia of the cor... OMIM:614643
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Flexion contracture OMIM:613869
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... OMIM:613750
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventriculomegaly, Cerebellar hypoplasia... OMIM:225790
Pontocerebellar Hypoplasia, Type 13
Short philtrum, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cerebellar vermis hyp... OMIM:618606
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... OMIM:617542
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613157
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, Skeletal muscle ... OMIM:613150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Myo... OMIM:253600
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Bardet-Biedl Syndrome 2
Diabetes mellitus, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Tremor, Increased intramyocellul... ORPHA:502423
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Simplified gyral pattern, Agen... OMIM:619302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture OMIM:611588
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Malan Overgrowth Syndrome
Narrow mouth, Optic disc hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Optic d... ORPHA:420179
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture OMIM:616516
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Macular hypoplasia, Small cerebral cortex, Abnormal cortical gyr... ORPHA:2185
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Abnormal cerebral white matter morphology, Proximal ... OMIM:618138
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Abnormal sensory nerve condu... ORPHA:276435
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Arthrogryposis multiplex congenita, Cerebellar hypoplasia OMIM:616531
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, Congenital muscular dystrophy,... OMIM:253800
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:613660
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Pigmentary retinopathy, Flexion contracture, Abnormal ... OMIM:252011
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter mor... ORPHA:477774
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, A... ORPHA:356961
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Agenesis o... ORPHA:250972
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Nephronophthisis 14
Retinal degeneration OMIM:614844
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebral calcification ORPHA:85335
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization OMIM:608895
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Abnormality of retinal pigmentation, Anterior hypopituitarism, Skeletal... ORPHA:480
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual evoked potenti... OMIM:125250
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Narrow mouth, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber p... ORPHA:169186
Neu-Laxova Syndrome
Arthrogryposis multiplex congenita, Abnormality of the philtrum, Muscular dystrophy, Aplasia/Hypo... ORPHA:2671
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar dysplasia... ORPHA:101070
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Type II lissencephaly, Congenital muscular dystrophy, Agyria, Hydrocephalus, Cerebellar malformat... OMIM:236670
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Thin upper lip vermilion, Cerebellar at... ORPHA:488635
Hsd10 Mitochondrial Disease
Optic atrophy, Hypoglycemia, Retinal degeneration OMIM:300438
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:614302
Oguchi Disease
Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness ORPHA:75382
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebel... ORPHA:397715
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... OMIM:618484
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Bardet-Biedl Syndrome 21
Retinal atrophy, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macular lesion, ... OMIM:617406
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Type II lissencephaly, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, En... OMIM:253280
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased circulating lactate dehydrogenas... OMIM:617114
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Limb hypertonia, Lower limb amyotrophy,... ORPHA:401815
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Nephronophthisis 15
Retinal degeneration OMIM:614845
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Optic atrophy, Del... ORPHA:330050
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Narrow mouth, Internally nucleated skeletal muscle fi... ORPHA:324581
Glutamine Deficiency, Congenital
Thin vermilion border, Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Sub... OMIM:610015
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... OMIM:300580
Achondroplasia
Megalencephaly, Hydrocephalus, Brain stem compression OMIM:100800
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Limb hypertonia, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus... OMIM:617296
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy ORPHA:459033
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Abnormality of the basal ganglia, Skeletal muscle atrophy OMIM:300816
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Hypogonadism ORPHA:1875
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Abnormal cerebral white matter morphology, Type 2 muscle fiber atrop... OMIM:617519
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar ve... OMIM:615960
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Decrease... OMIM:615368
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Pachygyria, Open mouth, Congenital muscular dystrophy, Muscular dystrophy, Absent m... ORPHA:258
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... ORPHA:2182
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebe... ORPHA:163961
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral ca... OMIM:610333
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... OMIM:167320
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Kleeblattschaedel
Hydrocephalus OMIM:148800
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
High palate, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Pontocerebellar Hypoplasia, Type 1B
Cerebellar cyst, Cerebral atrophy, Flexion contracture, Retinal dystrophy, Cerebellar atrophy, Sk... OMIM:614678
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, I... ORPHA:208447
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Cerebral atrophy, Abnormality of the basal ganglia, Generalized amy... OMIM:609560
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Ragged-red muscle fibers, Peripheral axonal neuropathy, Skeletal muscl... OMIM:617070
Aicardi Syndrome
Chorioretinal lacunae, Cavum septum pellucidum, Hiatus hernia, Spina bifida, Pachygyria, Arnold-C... OMIM:304050
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Hyperglycemia, Bone spicule pigmentat... OMIM:615986
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Pettigrew Syndrome
Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-... OMIM:304340
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Long philtrum, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velo... OMIM:619026
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Mosaic Trisomy 1
Camptodactyly of finger, Thick lower lip vermilion, Cerebellar vermis hypoplasia, Cerebellar hypo... ORPHA:1692
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy OMIM:615980
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Distal Monosomy 10Q
Cavum septum pellucidum, Scapular winging, High palate, Cerebellar hypoplasia, Smooth philtrum, T... ORPHA:96148
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Cog5-Cdg
Camptodactyly of finger, Cerebral white matter atrophy, High palate, Cerebellar atrophy, Joint co... ORPHA:263487
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Sensory a... ORPHA:52430
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Type 1 muscle fib... OMIM:254090
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology ORPHA:324422
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th toe, Long p... ORPHA:457279
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Hypoglycemia, Retinal degeneration OMIM:618329
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy OMIM:307030
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Long philtrum, High palate, Thin upper lip vermilion, Microcephaly, Abnormality of visual evoked ... OMIM:617523
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Myopathy, Mitochondrial, And Ataxia
Tremor, Pigmentary retinopathy, Primary amenorrhea, Distal amyotrophy, Increased circulating prol... OMIM:617675
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Muscular dystrophy, Ventriculomegaly, Cerebellar hypoplasia, A... ORPHA:88618
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Abnormal lateral ventricle morphology,... OMIM:615280
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Sensory axonal neuropathy, Generalized amyotrophy, Facial palsy, Mu... OMIM:258450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Short philtrum, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Lim... OMIM:616875
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... OMIM:617622
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Axonal loss, Flexion contracture, Ab... OMIM:616867
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Dilation of lateral ven... OMIM:607485
Arthrogryposis Multiplex Congenita 6
Neonatal death, Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in mus... OMIM:619334
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220220
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Oligodontia, Drooling, Hypoplasia of the corpus callosum, Hypodontia, Abnormal u... OMIM:607694
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Micro... OMIM:611134
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Hypoplasia of the corpus callosum, Joint contracture of the 5th finger, Jo... OMIM:618914
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, Cerebellar at... OMIM:215470
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Optic atrophy, Retinal degeneration OMIM:249270
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Retinal degeneration OMIM:615994
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Drooling, Abnormal cerebral white matter morphology, Flexion contracture... ORPHA:35069
Paganini-Miozzo Syndrome
Thin vermilion border, Downturned corners of mouth, Dilation of lateral ventricles OMIM:301025
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Cerebellar atrophy, Generalized amyotro... ORPHA:352447
Werner Syndrome
Premature arteriosclerosis, Diabetes mellitus, Retinal degeneration OMIM:277700
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Abnormal muscle fiber protein expression ORPHA:330054
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Peroxisome Biogenesis Disorder 6B
Abnormal cerebral white matter morphology, Retinal dystrophy, Cerebellar atrophy, Distal amyotrop... OMIM:614871
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
M