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
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy 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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Muscular dystrophy, Retinal dysplasia OMIM:615041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Type II lissencephaly, Muscular dystrophy, Retinal dysplasia, Ventriculomega... OMIM:613154
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Hydrocephalus, S... ORPHA:2703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Muscular dystrophy, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, Ty... OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Retinal dystrophy, Flexion contracture, Congenital muscular dystrophy, Cere... OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Cerebellar cyst, Congenital muscular dystrophy, Cerebellar hypoplasia, Muscular dystrophy, Ventri... OMIM:613151
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar h... OMIM:604213
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles, Elevated circulating alkaline... OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Musc... OMIM:613153
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Cerebellar atrophy, Limb-girdle muscle atrophy, Cerebellar cyst, Con... ORPHA:370980
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Muscular dys... OMIM:615181
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Cerebellar hypoplasia, Open mouth, Muscular d... OMIM:613156
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Proximal amyotro... OMIM:604286
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Muscular dystrophy, limb-girdle, type 2R
Facial palsy, Elbow flexion contracture, Muscular dystrophy, Scapular winging OMIM:615325
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Optic atrophy, Increased variability in muscle fiber diameter, Microcep... ORPHA:401768
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Elevated hepatic transaminase, Rimmed vacuoles, Pelv... ORPHA:263494
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Occipital encephalocele, Retinal dysplasia, Ventriculomegaly, Oral... ORPHA:324416
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:181350
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Aplasia/Hypoplasia of the corpus callosum, Hypoglycosylation of alpha-dystro... ORPHA:272
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Foot dorsiflexor weakness, Scapulohumeral muscular dystrophy, Facial palsy, Scapular winging, Pel... OMIM:158901
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Cerebellar hypoplasia, Muscular dystr... OMIM:608840
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Cerebellar hypoplasia, Occipital encephalocele, Anencephaly, Muscula... OMIM:615287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Sh... OMIM:611307
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Tented upper lip vermilion, Microcephaly, Abnor... OMIM:619517
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Cerebellar hypoplasia, Reduced muscle fiber alpha dystroglycan, Re... ORPHA:370959
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy... ORPHA:77299
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Congenital muscular dystrophy, Arthrogryposis multiplex congenita OMIM:253900
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, An... ORPHA:267
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Aplasia/Hypoplasia of the cerebellar vermis, Dilation of lateral ventricles, Agenesis of corpus c... OMIM:300864
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Cach Syndrome
Abnormal pons morphology, Cerebellar atrophy, Cerebral atrophy, Flexion contracture, Primary amen... ORPHA:135
Ophthalmoplegia, External, And Myopia
Spina bifida, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Hydrocephalus OMIM:123155
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness OMIM:310095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Cerebellar atrophy, Cerebellar cyst, Congenital muscular dystrophy, ... OMIM:606612
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Multiple joint contractures, Cerebellar hypoplasia, Reduced muscle fibe... ORPHA:370968
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Calf muscle hypertrophy, Quadriceps muscle atrophy OMIM:613319
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Cerebellar hypoplasia, Dysgyria, Hypoplasia of the brainstem, Hydrocepha... ORPHA:352682
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Increased variability in muscle fiber diameter, Myopathy, Hypoplasia of the corpus ca... OMIM:616816
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Drooling, Proximal muscle weakness in lower limbs, Incre... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Walker-Warburg Syndrome
Abnormal cortical gyration, Bifid uvula, Cerebellar hypoplasia, Retinal detachment, Retinal dyspl... ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cerebellar hypoplasia, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Microcephaly,... OMIM:615350
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle hypertrophy, Pecto... OMIM:604801
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hydrocep... OMIM:618709
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Subcortical band heterotopia, Hypopla... OMIM:615191
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Skeletal muscle atrophy OMIM:608807
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy OMIM:601287
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Pontocerebellar atrophy, Muscular dystrophy, Ankle flex... OMIM:608799
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Hypoplasia of the corpus callosum, Cerebral white matter atrophy, Peripheral ... ORPHA:468661
Gordon Holmes Syndrome
Cerebral atrophy, Cerebellar atrophy, Hypogonadotropic hypogonadism, Infertility, Chorioretinal d... OMIM:212840
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Hypoplasia of the pons, Microcephaly, Dandy-Walker malformation, Spi... OMIM:618736
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy OMIM:250450
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Retinal telangiectasia, ... OMIM:158900
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Drooling, Cerebellar hypoplasia, Hyperinte... ORPHA:565624
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Abnormal periventricular white matter morphology,... OMIM:618992
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Flexion contracture, Progressive microcephaly, Agenesis of corpus callosum, Retinal degen... OMIM:615249
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Elevate... OMIM:612937
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Hypoplasia of the corpus callosum, Foot dorsiflexor weakness, Optic atrophy, ... ORPHA:496756
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Optic neuritis, Abnormal retinal morphology,... ORPHA:254886
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, Cerebellar atrophy, Congenital muscular dystrophy, EMG: myopathic abnormalities... OMIM:601170
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Cerebellar hypoplasia, Muscular dystrophy, Microcephaly, Myopathy, Aplas... ORPHA:559
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Leukoencephalopathy, Muscular dystrophy OMIM:253590
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Cerebe... ORPHA:79243
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613723
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Proximal amyotroph... OMIM:253600
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy, Elevated hepatic transaminase, Musc... ORPHA:369840
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Cerebellar cortical atrophy, Hypergonadotropic hypo... OMIM:248800
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Retinal degeneration, Type II diabetes mellitus OMIM:520000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture OMIM:609308
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Ca... OMIM:619420
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Generalized dystonia, Cerebellar vermis... OMIM:619389
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Muscular dystrophy, Myopathy, Congenital muscular dystrophy OMIM:602541
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Muscular Dystrophy, Congenital, Lmna-Related
Generalized amyotrophy, Flexion contracture, Congenital muscular dystrophy OMIM:613205
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebellar atrophy, High palate, Dilated fourth ventricle, Cerebellar vermis hy... ORPHA:572798
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Cerebellar hypoplasia, Contractures of the large joints, Microcephaly, ... ORPHA:3078
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Knee flexion contractur... OMIM:612954
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Muscular dystrophy, Macroglossia, Calf muscle hypertrophy, Triangular to... OMIM:616827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Flexion contracture, Congenital muscular dystrophy, Cerebellar hypoplasia, Hypoglycosylation of a... OMIM:615351
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration, Vascular dilatation OMIM:225755
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Muscular dystrophy, Scapular winging, Calf muscle pseudohypertrophy ORPHA:62
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Abnormal cortical gyration, Flexion contracture, Congenital muscular dystrophy, Increased endomys... OMIM:607855
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Dpm1-Cdg
Cerebral atrophy, Cerebellar atrophy, Retinopathy, Pontocerebellar atrophy, Hypoplasia of the fro... ORPHA:79322
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612999
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, High palate, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscl... OMIM:255320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Cerebral calcification, Hydrocephalus, Cerebellar cyst, Muscular dystrophy, Ventriculomeg... OMIM:616538
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Cerebellar hypoplasia, Muscular dystrophy, Retinal detachment, Ventriculom... OMIM:614643
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Cerebellar hypoplasia, Optic nerve hypoplasia, Lissencephaly, Type II lissencephaly, Sm... ORPHA:300570
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... ORPHA:238329
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Tongue fasciculations, Z-band streaming, Cen... OMIM:618823
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology, Hydr... ORPHA:1532
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Limb jo... ORPHA:284417
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy, Patent ductus arteriosus OMIM:615147
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy OMIM:615352
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Optic nerve hypoplasia, Hypoplasia of the corpus ca... OMIM:618890
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy OMIM:616094
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Cleft upper lip, Agenesis of corpus callosum, Cerebellar cyst, Cerebellar h... OMIM:613150
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapillary choriore... OMIM:613750
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simp... OMIM:619302
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Flexion contracture OMIM:613869
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Retinal degeneration, Abnormal substantia nigra morphology, Abnormality ... ORPHA:2822
Spastic Paraplegia Type 7
Cerebellar atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, Upper limb muscle weakn... ORPHA:99013
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Foot dorsiflexor weakness, Hypoplasia of the corpus callosum, Optic atrophy, ... OMIM:617207
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Calf mus... OMIM:253700
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration, Diabetes mellitus OMIM:615981
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:225790
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613157
Pontocerebellar Hypoplasia, Type 13
High palate, Short philtrum, Macrodontia, Hypoplastic hippocampus, Thick upper lip vermilion, Dan... OMIM:618606
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture OMIM:611588
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Dystonia, Flexion contracture, Optic atrophy, Ragged-red muscle f... OMIM:252011
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Primary amenorrhea, Cerebellar hypoplasia, Hyperintensity of cerebral white matter o... ORPHA:502423
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Merrf
Ragged-red muscle fibers, Myopathy, Optic atrophy ORPHA:551
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Hydrocephalus, Encephalocele, Flexion contracture, Agenesis of corpus callosum, Cerebella... OMIM:253800
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Muscular dystrophy OMIM:616516
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy OMIM:616471
Malan Overgrowth Syndrome
Narrow mouth, High palate, Ventriculomegaly, Optic disc hypoplasia, Optic disc pallor, Hypoplasia... ORPHA:420179
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Abnormal cerebr... OMIM:618138
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Bethlem Myopathy
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Multiple joint contr... ORPHA:610
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Rod-cone dystrophy,... OMIM:611040
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of finger, Muscular dystroph... ORPHA:2926
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Short philtrum, Dilated third ventricle, Limb hypertonia, Optic nerve dysplasia... OMIM:617296
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles, Dystonia, Tremor ORPHA:306669
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Myopathy, Centronuclear, 2
High palate, Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial pa... OMIM:255200
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Abnormality of the basal ganglia, Skeletal muscle atrophy OMIM:300816
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Skeletal muscle atrophy, Diffuse cerebral atroph... ORPHA:330050
Fried Syndrome
Cerebral calcification, Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Nephronophthisis 14
Retinal degeneration OMIM:614844
Slc35A2-Cdg
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Abnormal midb... ORPHA:356961
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Myopathy, Myosin Storage, Autosomal Recessive
High palate, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predom... OMIM:255160
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema OMIM:617304
Combined Oxidative Phosphorylation Defect Type 27
Abnormal cerebral white matter morphology, Hypoplastic hippocampus, Ragged-red muscle fibers, Dif... ORPHA:477774
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Microcephaly, Dandy-Walker malformation, Hydrocephalus OMIM:617281
X-Linked Centronuclear Myopathy
High palate, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers... ORPHA:596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Congenital muscular dystrophy, Cerebellar hypoplasia, Retinal dysplasia, Retinal detachme... OMIM:236670
Myopathy, Congenital, With Fiber-Type Disproportion
High palate, Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Facial ... OMIM:255310
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ragged-red muscle fibers, Anterior hypopituitarism, Skeletal... ORPHA:480
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Cerebellar dysplasia, Abnormal cerebellum morphology, Ventriculomegaly, ... ORPHA:101070
Neu-Laxova Syndrome
Abnormal cortical gyration, Bifid uvula, Opisthotonus, Cerebellar hypoplasia, Everted lower lip v... ORPHA:2671
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, High palate, Multiple joint contractures, Increased variability in muscle fibe... ORPHA:486815
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Increased variability in muscle ... OMIM:125250
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Scapular winging, Generalized amyotrophy, Facial diplegia... ORPHA:169186
Bilateral Generalized Polymicrogyria
Dystonia, Oculogyric crisis, Abnormal hippocampus morphology, Hypoplastic hippocampus, Impaired m... ORPHA:208447
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:614302
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Shoulder girdle muscle atrophy, Rimmed vacuoles, Temporal cor... OMIM:167320
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Absent uvula, Cerebellar hypoplasia, Perisylvian polymicrogyria, Ventriculo... OMIM:616531
Hsd10 Mitochondrial Disease
Hypoglycemia, Retinal degeneration, Optic atrophy OMIM:300438
Myopathy, Myofibrillar, 8
Achilles tendon contracture, High palate, Dental malocclusion, Nemaline bodies, Generalized amyot... OMIM:617258
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Hypoplasia of t... ORPHA:488635
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Retinal dyst... ORPHA:397715
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Abnormal motor nerve conduction velocity, Muscle fiber necrosis, Increased variabili... OMIM:614399
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Oguchi Disease
Rod-cone dystrophy, Mizuo phenomenon, Macular degeneration, Congenital stationary night blindness ORPHA:75382
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Oculogyric crisis, Abnormal hippocampus morphology, Leukoencephalopat... ORPHA:178469
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Retinal atrophy, Rod-cone dystrophy, Hyperautofluoresc... OMIM:617406
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Amenorrhea, Peripheral axonal neuropathy, Cerebral cortical atrophy, Prematur... OMIM:619425
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Female infertility, Premature ovarian insufficiency, ... OMIM:619518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hypoplasia of the retina, Enlarged flash visual evoked potentials, Retinal ... OMIM:253280
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexi... ORPHA:1145
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Progressive distal muscular atrophy, Muscular dystrophy ORPHA:459033
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Colpocephaly, Cerebellar hypoplasia, Limb hypertonia, Hypoplasia of the co... ORPHA:401815
Benign Samaritan Congenital Myopathy
Narrow mouth, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fi... ORPHA:324581
Pontocerebellar Hypoplasia, Type 9
Short upper lip, Progressive microcephaly, Facial hypotonia, Ventriculomegaly, Macroglossia, Micr... OMIM:615809
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, High palate, Generalized amyotrophy, Ankle flexion contracture, Peri... OMIM:617519
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Retinal hemorrhage, Decreased nerve conduction velocity, Centrally nucleated... OMIM:615368
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Increased circulating lactate dehydrogenase concentration, Nemaline ... OMIM:617114
Achondroplasia
Brain stem compression, Megalencephaly, Hydrocephalus OMIM:100800
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Glutamine Deficiency, Congenital
Thin vermilion border, Flexion contracture, Hypoplasia of the corpus callosum, Camptodactyly, Dil... OMIM:610015
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Retinal dystrophy, Macular atrophy OMIM:212550
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Myositis, Flexion contracture, Congenital muscular dystrophy, Pontocerebellar atr... ORPHA:258
King-Denborough Syndrome
Minicore myopathy, High palate, Deep philtrum, Type 1 muscle fiber predominance, Weakness of faci... OMIM:619542
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Cerebellar atrophy, Periventricular leukomalacia, Hydrocephalus OMIM:618302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Congenital muscular dystrophy ORPHA:1875
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
High palate, Flexion contracture, Long philtrum, Drooling, Axial dystonia, Increased variability ... OMIM:619026
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Nephronophthisis 15
Retinal degeneration OMIM:614845
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation, Agenesis of cerebella... ORPHA:163961
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Retinal thinning, Retinal atroph... OMIM:615960
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus OMIM:307000
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Ventricul... OMIM:610333
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diameter, Facial dipl... ORPHA:171439
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus OMIM:619470
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
High palate, Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Aicardi Syndrome
Hiatus hernia, Chorioretinal lacunae, Cleft upper lip, Choroid plexus cyst, Cavum septum pellucid... OMIM:304050
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Peripheral axonal neuropathy, Cerebral cortical atrophy, Skeletal muscl... OMIM:617070
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Ventriculomegaly, Dandy-Walker malforma... OMIM:304340
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Retinal Detachment
Retinal detachment OMIM:180050
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, High palate, Short philtrum, Agenesis of corpus callosum, Long philtrum, Dilate... OMIM:619244
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Hyperglycemia,... OMIM:615986
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, EMG: myopathic ... ORPHA:169189
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Myopathy, Skeletal muscle atrophy OMIM:615980
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Short upper lip, Cerebral atrophy, Cerebellar atrophy, Short philtrum, Dystonia, Abnormality of v... OMIM:616875
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Dystonia, Diffuse leukoencephalopathy, Basal ganglia ca... OMIM:619487
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... OMIM:145350
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Sensory axonal neuropathy, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibe... OMIM:607459
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Mosaic Trisomy 1
Short upper lip, Agenesis of corpus callosum, Elbow flexion contracture, Cerebellar hypoplasia, T... ORPHA:1692
S-Adenosylhomocysteine Hydrolase Deficiency
Cerebellar hypoplasia, Hyperintensity of cerebral white matter on MRI, Muscular dystrophy, Ventri... ORPHA:88618
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Muscle fiber necrosis, Generalized amyotrophy... OMIM:254090
Distal Monosomy 10Q
High palate, Scapular winging, Cerebellar hypoplasia, Cavum septum pellucidum, Inferior cerebella... ORPHA:96148
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Cerebral atrophy, Abnormality of the basal ganglia, Ragged-red muscle fibers, Generalized amyotro... OMIM:609560
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Secondary micro... OMIM:615599
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Molar tooth sign on MRI, Microcephaly, Dandy-Walk... OMIM:611134
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Diffuse axonal swelling, Dystonia, Iron accumulation in globus pallidus, Flex... ORPHA:35069
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Ubiquitin-positive cerebral inclusion bodies, Sensory axonal neuropathy, Generalized amyotrophy, ... ORPHA:52430
Cog5-Cdg
High palate, Cerebellar atrophy, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral at... ORPHA:263487
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Hypogonadotropic hypogonadism, Dystonia, Drooling, Oligodontia, Hypodontia, A... OMIM:607694
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology ORPHA:324422
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
High palate, Long philtrum, Abnormality of visual evoked potentials, Microcephaly, Optic disc pal... OMIM:617523
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Retinitis Pigmentosa 51
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of... OMIM:613464
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Axonal loss, Flexion contracture, Skeletal muscle atrophy, Increased ... OMIM:616867
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Lingual dystonia, Striatal T2 hyperintensity OMIM:500003
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Sensory axonal neuropathy, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotroph... OMIM:258450
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy OMIM:307030
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebral atrophy, Thin corpus callosum, Increased variability in muscle fiber diameter, Ankle fle... OMIM:619461
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Triceps weakness, Centrally nucleated s... OMIM:619574
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal corpus callosum morphology, Long philtrum, Cavum septum pellucidum, Contrac... ORPHA:457279
Pseudo-Torch Syndrome 2
Cerebral calcification, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly, Polymicrogyria, Di... OMIM:617397
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Probst bundles, Agenesis of corpus callosum, Long philtrum, High, narrow palate, Sub... OMIM:612863
Myopathy, Mitochondrial, And Ataxia
High palate, Primary amenorrhea, Increased variability in muscle fiber diameter, Increased circul... OMIM:617675
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Ventriculomegaly, Dandy-Walker malformation, Superio... OMIM:617622
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebral atrophy, Cerebellar atrophy, Dystonia, Limb hypertonia, Rod-cone dystrophy, Distal amyot... OMIM:618247
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Neurodevelopmental, Jaw, Eye, And Digital Syndrome