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Gene: Pomgnt1 MGI:1915523

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pomgnt1 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration, Muscle fiber inclusion bodies, Muscular ... OMIM:615426
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Muscular dystrophy, Congenital musc... OMIM:613151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Cerebellar hypoplasia, Muscular dystrophy, Ventriculomegaly OMIM:614830
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Hydrocephalus, Flexion contracture... OMIM:613155
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Retinal detachment, Ventriculomegaly, Agenesis of cerebellar vermis, Hypopl... OMIM:613153
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Dpm3-Cdg
Elevated hepatic transaminase, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle ... ORPHA:263494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Dilated third ventricle, Hydrocephalus, Flexion contrac... OMIM:613154
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle ... OMIM:613156
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Retinal dysplasia OMIM:615041
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... OMIM:613319
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Myopathy, Distal, Tateyama Type
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... OMIM:614321
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Hypoplasia of the ventral pons, Deg... OMIM:607596
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber dia... OMIM:616816
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydroce... OMIM:615181
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Calf muscle pseudohypertrophy, Hy... ORPHA:370959
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Band Heterotopia
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:600348
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Spina bifida, Chorioretinal degeneration OMIM:311000
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Retinal dysplasia, Cerebellar malformati... ORPHA:324416
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy OMIM:310095
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Hand tremor, Lateral ventricle dilatation, D... OMIM:615889
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract... ORPHA:272
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy... ORPHA:77299
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Flexion contracture, Optic atrophy, Secondar... ORPHA:135
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Retinal pigment epithelial mottling, Partia... OMIM:619517
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy... OMIM:181350
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Hy... OMIM:220200
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Walker-Warburg Syndrome
Skeletal muscle atrophy, Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal d... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Limb-girdle muscle weakness, Muscular dystrophy OMIM:616094
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Retinal telangiectasia, ... OMIM:158900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Centrally nucleated skeletal muscle fibers, Optic a... ORPHA:401768
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Dysplastic corpus callosum, ... OMIM:618276
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy OMIM:615352
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Cerebellar vermis hypoplasi... ORPHA:370968
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Myopathy, Limb-girdle muscular dystrophy, Increased variability in... OMIM:612937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Tremor, High, narrow palate, Abnormal macular morphology, Optic atroph... OMIM:608799
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... OMIM:256850
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Retinal dystrophy, Elongated supe... OMIM:608629
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... OMIM:616827
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Cerebellar h... OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Adams-Oliver Syndrome 2
Hydrocephalus, Optic atrophy, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypo... OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture, Cerebellar hypoplasia, Muscular dystrophy, Agenesis of corpus... OMIM:615249
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... OMIM:611588
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Calf muscle pseudohypertrophy, Scapular winging, Muscular dystrophy, Achilles tendon contracture ORPHA:62
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Skeletal muscle atrophy, Ventriculomegaly, Facial palsy, Elbow contracture, A... OMIM:606612
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Muscular Dystrophy, Becker Type
Calf muscle pseudohypertrophy, Muscular dystrophy OMIM:300376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Hypoplasia of the pons, Cleft palate, Cerebellar hypopla... OMIM:615350
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Cryptorch... ORPHA:565624
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Tremor, Increased variability in muscle fiber diamet... OMIM:619473
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism, Camptodactyly of finger, Camptodactyly OMIM:619420
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue... OMIM:613443
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:352682
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... OMIM:613205
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Joint contracture, Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy OMIM:616516
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Bardet-Biedl Syndrome 2
Diabetes mellitus, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Optic atrophy, Contractures of the large joints, Lateral ventricle dila... ORPHA:3078
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Optic atrophy, Myopathy, Hypogonadism, Cerebellar hypoplasia, Muscular d... ORPHA:559
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, High palate, In... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia ... OMIM:617751
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Cleft upper lip, Partial absence of cerebellar vermis, Hydro... OMIM:613150
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin upper lip vermilion, Dystonia, Pontocerebellar atrophy, Lateral ventricle dilatation, High p... OMIM:617854
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Centrally nucleated ... OMIM:248800
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Dpm1-Cdg
Cerebellar atrophy, Smooth philtrum, Ventriculomegaly, Tented upper lip vermilion, High, narrow p... ORPHA:79322
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypopla... ORPHA:572798
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab... OMIM:618484
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventr... ORPHA:79243
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Reduced beta-hexosaminidase activity, Proximal ... ORPHA:309169
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration, Vascular granular osmiophilic material... OMIM:256730
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Dystonia, Retinal pigment epithelial mottling, Lateral ventricle dila... OMIM:614105
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Increased circulating lactate dehydrogena... OMIM:620138
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... ORPHA:486815
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Weakness of faci... OMIM:620265
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt... OMIM:614643
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Cerebellar vermis hypoplasia, Flexion contr... OMIM:618291
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Muscular dystrophy, Increased var... OMIM:616538
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Retinal detachment, Exaggerated startle response, Hydroce... OMIM:253800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion contracture, Knee flexion con... ORPHA:284417
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy OMIM:613869
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... OMIM:616602
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula... ORPHA:276435
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Nephronophthisis 14
Retinal degeneration OMIM:614844
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Macrodontia, Hypoplasia of the pons, Late... OMIM:618606
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Facial palsy, Abnormal retinal morphology, Hand muscle weak... ORPHA:254886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Ileal atresia, Generalized limb muscle atrophy, Cerebell... OMIM:615351
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Choroidal neovascularization OMIM:608895
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro... OMIM:612954
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, Cryptorchidism, Deep philtr... OMIM:619542
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type 1 fibers relativ... ORPHA:596
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Lateral ventricle dilatation, Dystonia ORPHA:306669
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Malan Overgrowth Syndrome
Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, High palate, Narrow mouth... ORPHA:420179
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella... OMIM:304100
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis, Optic disc pallor, Dandy-Walker malfor... OMIM:617235
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem... OMIM:615191
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Anal atresia, Retinal detachment, Retinal atrophy, Occipital encephalocele, Optic nerve hypoplasi... OMIM:236670
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lower limb hyper... OMIM:617296
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atroph... OMIM:258450
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... OMIM:619518
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Musc... ORPHA:369840
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... ORPHA:169186
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Peripheral axonal neuropathy, Abnormality of pattern visual evoked poten... ORPHA:2822
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly ORPHA:2185
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, High palate, Narrow mouth, Weakness ... OMIM:615959
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Congenital muscular dystrophy, Decreased testicular size ORPHA:1875
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Dental... OMIM:617258
Benign Samaritan Congenital Myopathy
Narrow mouth, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fi... ORPHA:324581
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Lower limb amyotrophy, Cerebellar hypoplasia, Limb hypertonia ORPHA:401815
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversal visual... OMIM:125250
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Hypoglycemia OMIM:300438
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet... ORPHA:169189
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab... OMIM:614399
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Lateral ventricle dilatation, Oligodontia OMIM:618330
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Thin upper lip vermilion, Abnormal lateral ventricle morphology, Cerebellar h... ORPHA:488635
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Dystonia OMIM:617668
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy ORPHA:459033
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus... ORPHA:300570
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle... ORPHA:99013
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Sensory axonal neuropathy, Increased variability in muscle fiber diamete... ORPHA:238329
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Dental crowding, Centrally nucleated skeletal muscle fibers, A... OMIM:620351
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618174
Myasthenic Syndrome, Congenital, 12
Retinoschisis, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gliosis OMIM:221770
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Hypergonadotropic hypogonadism, Decreased number of large peripheral myelinat... OMIM:271245
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Narrow mouth, Cryptor... OMIM:611209
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... OMIM:613752
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, Flexion contract... OMIM:615368
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy OMIM:615980
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Glutamine Deficiency, Congenital
Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Thin vermilion border, Cam... OMIM:610015
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Optic atrophy, Choreoathetosis, Colpocephaly, Dystonia, Ventri... OMIM:616034
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,... OMIM:615986
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... ORPHA:324604
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Retinal dystrophy, Abnor... ORPHA:397715
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Tremor, Increased variability in muscle fiber diameter, Primary amenorrhea, In... ORPHA:502423
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... OMIM:167320
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Lateral ventricle dilatation, Tented upper lip vermilion, Cleft palate OMIM:615716
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
Optic Atrophy 11
Optic nerve hypoplasia, Optic atrophy, Increased variability in muscle fiber diameter, Facial dip... OMIM:617302
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Alg13-Cdg
Abnormal lateral ventricle morphology, Long philtrum ORPHA:324422
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degenerat... ORPHA:356961
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Oculogyric crisis, Dystonia ORPHA:208447
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Optic atrophy, Stroke, Retinal degeneration OMIM:249270
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Peripheral axonal neuropathy, Intestinal pseudo-obstru... OMIM:607459
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Pigmentary retinopathy, Left ventri... OMIM:252011
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Cryptorchidism, Lateral ventricle dilatatio... OMIM:619244
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Abnormality of retinal pigmentation ORPHA:480
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, W... OMIM:616239
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Increased variability in muscle fiber diameter, Enamel hypoplasia, High palate OMIM:617915
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Cog5-Cdg
Cerebellar atrophy, Camptodactyly of finger, Cryptorchidism, Lateral ventricle dilatation, High p... ORPHA:263487
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology OMIM:203450
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Flexion contracture, Macr... ORPHA:258
X-Linked Intellectual Disability, Wilson Type
Wide mouth, Lateral ventricle dilatation, Thick vermilion border, Hydrocele testis ORPHA:85290
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Thick lower lip vermilion, Wide mouth, Late... OMIM:620075
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, High palate, Lower limb hypertonia, Intention tremor OMIM:619995
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Aicardi Syndrome
Retinal detachment, Cerebellar vermis hypoplasia, Spina bifida, Cleft upper lip, Hiatus hernia, C... OMIM:304050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Neu-Laxova Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventriculomegaly,... ORPHA:2671
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Molar tooth sign on MRI, Superior cerebellar dyspl... OMIM:617622
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Hypoplasia... OMIM:253280
Spermatogenic Failure 17
Male infertility OMIM:617214
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Triceps weakne... OMIM:619574
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Thick low... ORPHA:1692
Paganini-Miozzo Syndrome
Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion border OMIM:301025
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Camptodactyly of toe, Joint cont... OMIM:175700
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Distal Deletion 10Q
Smooth philtrum, Thin upper lip vermilion, Scapular winging, Cleft palate, Facial diplegia, Later... ORPHA:96148
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Ventriculomegaly, Knee flexio... OMIM:616531
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:617397
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Tongue fasciculations OMIM:300816
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ... OMIM:300219
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, High palate, Typ... OMIM:609285
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Aicardi-Goutieres Syndrome 9
Optic atrophy, Chorioretinal atrophy, Lateral ventricle dilatation, Lower limb hypertonia, Dyston... OMIM:619487
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hydrocephalus, Impaired glucose tolerance, Retinal degeneration OMIM:615630
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter OMIM:614096
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Tented upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Hydroceph... OMIM:619833
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, Cervical myelopathy, Re... OMIM:619260
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Aceruloplasminemia
Diabetes mellitus, Retinal degeneration OMIM:604290
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint c... OMIM:618914
Glutaric Acidemia I
Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Symmetrical progressi... OMIM:231670
Arthrogryposis Multiplex Congenita 6
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... OMIM:619334
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Anteri... OMIM:612863
Gabriele-De Vries Syndrome
Facial hypotonia, Abnormality of the dentition, Tremor, Cryptorchidism, Thick lower lip vermilion... OMIM:617557
Mitochondrial Complex I Deficiency, Nuclear Type 21
Abnormal cerebellum morphology, Ragged-red muscle fibers, Myopathy OMIM:618242
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Limb-girdle muscle weakness, Optic atrophy, Myopathy, Abnorm... ORPHA:1215
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220220
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Elongated sup... ORPHA:370022
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Noonan Syndrome 14
Scapular winging, High, narrow palate, Cryptorchidism, Wide mouth, Lateral ventricle dilatation, ... OMIM:619745
Muscular Dystrophy, Duchenne Type
Calf muscle pseudohypertrophy, Achilles tendon contracture, Flexion contracture, Hamstring contra... OMIM:310200
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Diffuse cerebellar atrophy, Upper limb postural tremor ORPHA:477774
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Dental crowding, Intestinal malrotation, Cryptorchidism, Gingival overg... OMIM:615485
Weaver Syndrome
Diastasis recti, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Cerebellar hypop... OMIM:277590
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the dentition, Hypoplasia of the pons, Cerebellar hypoplasia, Muscular dystrophy, ... ORPHA:88618
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Macrodontia, Downturned corners of mouth, Tooth agenesis, Colpocephaly, Short philtrum, Cerebella... OMIM:618731
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Abnormal flash visual evoked potentials, Postural tr... ORPHA:98755
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cryptorchidism, Lateral ventricle dilatation, Opisthotonus OMIM:619847
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Peripheral axonal neuropathy, Ragged-red muscle fibers OMIM:617070
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Reti... OMIM:263520
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard... ORPHA:457279
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Proxi... OMIM:615084
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Celiac disease, Dysplastic corpus callosum, Bilateral cryptorchidism, Lateral ventricle dilatatio... ORPHA:544488
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Optic disc hypoplasia, Dysplastic corpus callosum, Colpocephaly, Mi... OMIM:619955
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Spinocerebellar Ataxia 28
Cerebellar atrophy, Lower limb hypertonia, Ragged-red muscle fibers, Dystonia OMIM:610246
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short lingual frenulum, Flexion contracture, Lateral ventricle dilatation, Widely spaced teeth, L... OMIM:619479
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder girdle muscle weakne... OMIM:607155
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Centrally nucleated skeletal muscle fibers, Flexion contracture, S... OMIM:613327
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Thin upper lip vermilion, Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evok... OMIM:617523
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Axial dystonia, Flexion contracture, High palate, Long... OMIM:619026
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Scheie Syndrome
Retinal degeneration OMIM:607016
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypog... OMIM:157640
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Flexion contracture... ORPHA:141
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2461
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy, Vascular granular osmiophilic material deposition OMIM:610127
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... OMIM:618733
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Optic atrophy, Gingival overgrowth, Short upper lip, Short philtrum, Dystonia... OMIM:616875
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus ORPHA:363717
Mepan Syndrome
Cerebellar atrophy, Axial dystonia, Dystonia, Hemidystonia, Optic atrophy, Limb dystonia, Abnorma... ORPHA:508093
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... ORPHA:464738
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Tremor, Dystonia, Abnormality of vi... ORPHA:96
Myopathy, Mitochondrial, And Ataxia
Tremor, Primary amenorrhea, Pigmentary retinopathy, Distal amyotrophy, High palate, Increased var... OMIM:617675
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Colpocephaly, High palate, T... OMIM:618651
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Central Core Disease
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... ORPHA:597
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Agenesis... OMIM:207950
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Carious teeth, Tremor, Lateral ... OMIM:619229
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Tremor, Type 2 muscle fiber predominance OMIM:619028
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Optic atrophy, Gingival overgrowth, Opisthotonus, Colpocephaly, Agenesis of co... OMIM:620352
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Lateral ventricle dila... OMIM:619869
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Myopathy, High palate, Limb dystonia, Increased variability in muscle fiber d... OMIM:604377
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Craniofacial Dyssynostosis With Short Stature
Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Craniofacial dystonia... OMIM:620011
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar gliosis, Flexion contracture, Optic ... ORPHA:35069
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Optic nerve compression, Optic atrophy, Hydrocephalus OMIM:612301
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... ORPHA:52430
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Congenital Disorder Of Glycosylation, Type Iim
Exaggerated cupid's bow, Lateral ventricle dilatation, Fused teeth, High palate, Cerebellar hypop... OMIM:300896
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Reduced circulating aldolase concentratio... ORPHA:57
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Hypoglycemia ORPHA:391428
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Flexion contracture, Elbow flexion contracture, Gingival overgrowth, Pierre-Robi... OMIM:300868
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Jaundice, Increased muscle glycogen co... OMIM:232800
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Athetosis, Ragged-red muscle fibers, Dystonia OMIM:615159
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, Congenital contracture... OMIM:620156
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Flexion contracture ORPHA:2148
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers OMIM:500003
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Cryptorchidism, Everted lower lip vermilion, Generalized amyotrophy, Abnormali... ORPHA:314389
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Oligozoospermia, Azoospermia, Muscular dystrophy OMIM:300200
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Hypergonadotropic hypogonadism, Tremor, Ragged-red muscle fibers, Rod-cone dy... OMIM:607426
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin... ORPHA:5
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal amyotrophy, A... OMIM:601152
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Dysmenorrhea, Abnormality of skeletal muscle fiber size, Secondary... ORPHA:79083
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Myopathy, Generaliz... ORPHA:352447
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Prader-Willi Syndrome Due To Translocation
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Carious teeth, Alveolar ridge overgrowth... ORPHA:177907
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... OMIM:614815
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus OMIM:619575
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Mening... OMIM:614424
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial abse... OMIM:619895
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... OMIM:615219
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... OMIM:620285
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation ORPHA:93262
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Ventriculomegaly, Facial palsy, Carious teeth, High, narrow palate, Cry... OMIM:615873
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus OMIM:620157
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c... OMIM:615595
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Micro Syndrome
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology... ORPHA:2510
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Flexion contracture, High palate, Arthrogryposis multiplex congenita, Increased e... ORPHA:178148
Lethal Congenital Contracture Syndrome 9
Thin upper lip vermilion, Elbow extension contracture, Centrally nucleated skeletal muscle fibers... OMIM:616503
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Abnormality of skeletal muscle fiber size, Secondary amenorrhea, Skeletal muscle hy... ORPHA:2348
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... ORPHA:8
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Short philtrum, Smooth phil... ORPHA:293725
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220497
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:608091
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Cleft palate, Pigmentar... OMIM:614866
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Flexion contracture, Gingival overgrowth, Opisthotonus, Lateral ventr... OMIM:614098
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Dandy-Walker... OMIM:617822
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial musculature OMIM:618416
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Resting tremor, Peripheral axonal neuropa... ORPHA:2388
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Peho Syndrome
Cerebellar atrophy, Tented upper lip vermilion, Optic atrophy, Undetectable visual evoked potenti... OMIM:260565
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Gingival overgrowth, Short philtrum, Abnormality of visual evoked potentials, Diff... ORPHA:480898
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Head titubation, Abnormal... ORPHA:300605
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability... OMIM:616866
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Cryptorchidism, Wide mouth, Colpocephaly, High palate, ... ORPHA:261250
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hydrocephalus, Cleft palate, Anteriorly placed anus, Pigmentary ... OMIM:309801
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evo... OMIM:256600
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Tented upper lip vermilion, Tremor, Optic atrophy, Choreoathetosis,... OMIM:615673
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Ventriculomegaly, Rhabdomyosarcoma, Cleft palate, Colon cancer, Muscular dy... ORPHA:1052
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebellar vermis hypoplasia, Ankle flexion contracture, Pyloric stenosis, Elbow flexion contract... OMIM:619461
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Pallister-Hall-Like Syndrome
Chiari type I malformation, Occipital encephalocele, Hydrocephalus OMIM:241800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Fanconi Anemia, Complementation Group I
Colpocephaly, Chiari malformation, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:609053
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Crouzon Syndrome
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia ORPHA:207
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent... OMIM:304340
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Exaggerated startle response OMIM:618367
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:609757
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220493
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of... OMIM:264800
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Chiari malformation ORPHA:171839
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph... ORPHA:3068
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, H... ORPHA:298
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2318
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... ORPHA:1908
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pigmentary retinopat... OMIM:600462
Weiss-Kruszka Syndrome
Ventriculomegaly, Exaggerated cupid's bow, Colpocephaly, Left ventricular hypertrophy, Agenesis o... OMIM:618619
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:60040
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Ventriculomegaly, Optic nerve hypoplasia, Dysplastic corpus callosu... ORPHA:500150
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem ORPHA:2836
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Cerebellar vermis hypoplasia, Dental crowding, Open bite, Cryptorchidism, Colp... OMIM:620083
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Optic atrophy, Focal dystonia,... ORPHA:52368
Werner Syndrome
Diabetes mellitus, Retinal degeneration, Premature arteriosclerosis OMIM:277700
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ventri... OMIM:614969
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Camptodactyly of finger, Cleft upper lip, Cryptorchidism, Hydrocephalus, Submu... OMIM:607872
Plasminogen Deficiency, Type I
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly OMIM:217090
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydrocephalus, Abnormal dent... ORPHA:59315
Nephronophthisis 18
Hydrocephalus OMIM:615862
Cockayne Syndrome A
Abnormal peripheral myelination, Tremor, Retinal atrophy, Cryptorchidism, Retinal pigment epithel... OMIM:216400
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Cerebellar vermis hypoplasia, Triangular mouth, Pigmentary retinopath... OMIM:618460
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Jejunal atresia, High, narrow palate, Narrow palate, Type 1 muscle fiber predominance, Increased ... OMIM:612949
B4Galt1-Cdg
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:79332
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Stroke-like episode OMIM:619780
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Ragged-red muscle fibers, Limb muscle weakness, Hypogonadism, EM... OMIM:609286
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Shoulder flexion co... OMIM:210710
Leber Optic Atrophy
Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Myo... OMIM:535000
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ventriculomegaly, Abnormality of vi... ORPHA:1933
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Temple Syndrome
Hydrocephalus ORPHA:254516
Multiple Sulfatase Deficiency
Hydrocephalus, Retinal degeneration OMIM:272200
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion contracture, Chiari typ... ORPHA:261537
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Dandy-Walker malformation, Agen... OMIM:618476
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:2169
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... ORPHA:485421
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Da... ORPHA:1647
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
Cerebrotendinous Xanthomatosis
Axonal degeneration, Premature loss of teeth, Abnormal cerebellar peduncle morphology, Distal amy... ORPHA:909
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Intestinal pseudo-obstruction, Malabsorption OMIM:613662
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal amplitude of flash visual evoked potentials, Retinal degeneration, A... ORPHA:168491
Aceruloplasminemia
Macular degeneration, Diabetes mellitus, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Hypotonia-Cystinuria Syndrome
Tented upper lip vermilion, Ragged-red muscle fibers, Hypergonadotropic hypogonadism, Facial palsy OMIM:606407
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Native American Myopathy
Skeletal muscle atrophy, Submucous cleft soft palate, Cryptorchidism, Abnormality of skeletal mus... ORPHA:168572
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy, Vascular dilatation OMIM:616307
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformatio... OMIM:617281
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Retinal atrophy, Type II diabetes mellitus ORPHA:412057
Glycogen Storage Disease Xii
Jaundice, Elevated circulating alanine aminotransferase concentration, Increased variability in m... OMIM:611881
Rabin-Pappas Syndrome
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia OMIM:620155
Bresek Syndrome
Neonatal death, Hydrocephalus ORPHA:85284
Arachnoiditis
Hydrocephalus ORPHA:137817
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Hyperautofluoresce... OMIM:209900
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion contracture, Chiari typ... ORPHA:261552
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Macular coloboma, Hydrocephalus, Optic atrophy, Subdural hemorrhage, Pigmentary ret... ORPHA:79282
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy, Hypodontia ORPHA:2971
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Reduced carnitine O-palmitoyltransferase level, Rhabdomyolysis, Increased m... ORPHA:228302
Fanconi Anemia, Complementation Group R
Chiari type I malformation, Hydrocephalus OMIM:617244
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Intestinal pseudo-obstr... ORPHA:70595
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism ORPHA:1926
Knobloch Syndrome
Retinal detachment, Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Abnormal vi... ORPHA:1571
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Smooth philtrum, Tented upper lip vermilion OMIM:620240
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:261344
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Abnormality of canine, Cryptorchidism, Colpocephaly, Lower limb hyperto... ORPHA:477993
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Submuc... OMIM:301043
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Postural tremor, Decreased fertility in female... ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Ragged-red muscle fibers, Cleft palate, Dystonia, Agenesis of corpus ... OMIM:614924
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Melas
Peripheral axonal neuropathy, Intestinal pseudo-obstruction, Hypogonadotropic hypogonadism, Ragge... ORPHA:550
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly OMIM:614576
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum ORPHA:65285
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Temple Syndrome
Hydrocephalus OMIM:616222
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Nephronophthisis 11
Retinal degeneration OMIM:613550
Kearns-Sayre Syndrome
Pigmentary retinopathy, Ragged-red muscle fibers OMIM:530000
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypogon... ORPHA:791
White-Sutton Syndrome
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Cleft palate, Downturn... OMIM:616364
Pelizaeus-Merzbacher Disease
Choreoathetosis, Abnormality of visual evoked potentials, Optic atrophy, Dystonia ORPHA:702
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:613001
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tented upper lip vermilion, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Tr... OMIM:619424
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Gorlin Syndrome
Hydrocephalus ORPHA:377
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Optic neuropathy, Ragged-red musc... OMIM:252010
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, High palate, Facial palsy OMIM:616720
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Stromme Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Agenesis of corpu... OMIM:243605
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Glycerol Kinase Deficiency
Downturned corners of mouth, Myopathy, Muscular dystrophy, Cryptorchidism OMIM:307030
Muenke Syndrome
Hydrocephalus ORPHA:53271
Emanuel Syndrome
Hydrocephalus, Chiari malformation, Dandy-Walker malformation, Agenesis of corpus callosum, Ventr... ORPHA:96170
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia OMIM:618590
Lethal Congenital Contracture Syndrome 10
Torticollis, Narrow palate, Macroglossia, High palate, Long philtrum, Increased variability in mu... OMIM:617022
Kabuki Syndrome 1
Anal stenosis, Intestinal malrotation, Abnormality of the dentition, Malabsorption, Cryptorchidis... OMIM:147920
Epidermolysis Bullosa Simplex With Pyloric Atresia
Flexion contracture, Muscular dystrophy ORPHA:158684
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Tremor, Uppe... ORPHA:206443
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation, Bifid uvula, Agenesis of permanent teeth OMIM:181270
Fanconi Anemia, Complementation Group B
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:300514
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Retinal detachment, Decreased muscle mass, Peripheral axonal neuropathy, High, narrow palate, Elb... ORPHA:1900
Mogs-Cdg
Absent brainstem auditory responses, Optic atrophy, Hydrocele testis, High palate, Dystonia, Left... ORPHA:79330
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... ORPHA:268810
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Female infertility, Hydrocephalus, Rod-cone dystrophy, ... ORPHA:244
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:264480
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Pfeiffer Syndrome
Hydrocephalus, Chiari malformation OMIM:101600
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Tremor, Distal amyotrophy, High palate, Increased variability ... OMIM:164310
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Cln5 Disease
Cerebellar atrophy, Tremor, Abnormality of visual evoked potentials ORPHA:228360
Spondylocostal Dysostosis 4, Autosomal Recessive
Chiari type II malformation, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:613686
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, High palate, Thick vermilion border, Agene... OMIM:620113
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Joubert Syndrome
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:475
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Hurler Syndrome
Hydrocephalus, Retinal degeneration OMIM:607014
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n... ORPHA:352665
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of th... OMIM:620305
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Increased CSF protein concentrat... ORPHA:206448
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia ORPHA:457284
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Facial palsy, Tremor, Quadricep... ORPHA:254892
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephal... OMIM:619512
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Cockayne Syndrome B
Cerebellar calcifications, Delayed eruption of primary teeth, Abnormal auditory evoked potentials... OMIM:133540
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Hydrocephalus, C... ORPHA:2356
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal muscle fi... ORPHA:1320
Apert Syndrome
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Dural Sinus Malformation
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus ORPHA:97339
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Punctate vasculitis skin lesions,... ORPHA:247691
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:17
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Ventri... ORPHA:487796
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hemorrhage, A... ORPHA:90324
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Joint contracture, Gingivitis, Limb hypertonia OMIM:614457
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callos... OMIM:612651
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis, Gingival bleeding ORPHA:449285
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Jejunal atresia, Ileal atresia, Dysplastic corpus callosum, Cryptorchidism, Colpoce... OMIM:618820
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker... OMIM:257300
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Tetrasomy 5P
Hydrocephalus, Cerebellar hypoplasia ORPHA:3309
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Dental malocclusion, Ventriculo... ORPHA:1855
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:157
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Ragged-red muscle fibers, Optic atrophy, Pigmen... ORPHA:255210
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Dystonia, Abnormality of visual evoked potent... ORPHA:309263
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Fg Syndrome Type 1
Abnormal cerebellum morphology, Hydrocephalus, Ventriculomegaly ORPHA:93932
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Deep philtrum, Wide mouth, Colpocephaly, Agenesis of corpus callosum, Smooth ph... OMIM:617260
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal mo... ORPHA:580
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly ORPHA:228308
Medulloblastoma
Hydrocephalus, Cerebellar calcifications, Cerebellar cyst ORPHA:616
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Achondroplasia
Brain stem compression, Hydrocephalus OMIM:100800
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hand muscle weakness, Fatty replacement of skeletal muscle, Genera... ORPHA:98908
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Diabe... ORPHA:191
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Prominent superficial veins, Diabetes mellitus, Abnormal cer... ORPHA:79474
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Trisomy 17P
Hydrocephalus ORPHA:261290
Mucopolysaccharidosis Type 3
Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retinal degeneration ORPHA:581
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Distal amyotrophy, High palate, Muscle fiber atrophy, Arthrogryposis... ORPHA:590
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Dyst... ORPHA:309256
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Distal amyotrophy, High palate, Muscle fiber atrophy, Arthrogryposis... ORPHA:98914
Desmosterolosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Occipital encephalocele, Hydrocephalus, Cerebellar vermis h... ORPHA:1454
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Abnormal palate morphology, Long philtrum ORPHA:1389
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Ruvalcaba Syndrome
Dental crowding, Cryptorchidism, Thin vermilion border, Narrow mouth, Abnormality of visual evoke... ORPHA:3121
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Desmosterolosis
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:602398
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Hydrocephalus OMIM:616482
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Lateral Meningocele Syndrome
Chiari type I malformation, Hydrocephalus, Meningocele OMIM:130720
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Full Nf2-Related Schwannomatosis
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Brain stem compression ORPHA:637
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Achondroplasia
Hydrocephalus ORPHA:15
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Trichothiodystrophy
Macular degeneration, Retinal degeneration ORPHA:33364
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Polymyositis
Elevated circulating aldolase concentration, Abnormal muscle fiber morphology ORPHA:732
Crouzon Syndrome
Hydrocephalus OMIM:123500
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... OMIM:249000
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Dental crowding, Aganglionic megacolon, Intestinal malrotation, Pyloric steno... OMIM:270400
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Dystonia, Abnormality of visual evoked potent... ORPHA:309271
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Neonatal death OMIM:619534
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus ORPHA:1865
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Chiari malformation OMIM:618162
Sturge-Weber Syndrome
Hydrocephalus, Chiari malformation ORPHA:3205
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Paucity of anterior horn moto... ORPHA:79139
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Apert Syndrome
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Ve... OMIM:101200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Duplication Of The Pituitary Gland
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Monosomy 9Q22.3
Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:77301
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Ehlers-Danlos Syndrome, Classic-Like
Hiatus hernia, Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Ventriculomegaly OMIM:259720
Hermansky-Pudlak Syndrome
Menometrorrhagia, Abnormal dental enamel morphology, Malabsorption, Ocular albinism, Abnormal opt... ORPHA:79430
Alport Syndrome
Renal glomerular foam cells, Macular degeneration, Retinal flecks, Abnormal aortic morphology, Ao... ORPHA:63
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:2166
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Whipple Disease
Hydrocephalus ORPHA:3452
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Increased intramyocellular lipid drople... ORPHA:79102
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal cerebrospinal fluid... ORPHA:68
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Monosomy 18Q
Hydrocephalus, Cerebellar hypoplasia ORPHA:1600
Farber Disease
Macular degeneration, Cherry red spot of the macula, CNS foam cells ORPHA:333
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia ORPHA:90652
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Rod-cone dystrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
6Q Terminal Deletion Syndrome
High, narrow palate, Colpocephaly, Thick vermilion border, Cerebellar hypoplasia, Broad philtrum ORPHA:75857
Mirage Syndrome
Hydrocephalus OMIM:617053
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Short-Rib Thoracic Dysplasia 12
Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration ORPHA:247234
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Dextrocardia
Hydrocephalus ORPHA:1666
Shprintzen-Goldberg Craniosynostosis Syndrome
Chiari type I malformation, Hydrocephalus OMIM:182212
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Oli... ORPHA:85450
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Intestinal malrotation, Cari... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Intestinal malrotation, Cari... ORPHA:353277
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Histiocytoid Cardiomyopathy
Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Mohr Syndrome
Hydrocephalus OMIM:252100
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration OMIM:234200
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Aymé-Gripp Syndrome
Chiari type I malformation, Hydrocephalus, Ventriculomegaly ORPHA:1272
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... ORPHA:206572
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Tremor, Hydrocephalus, Abnormality of... ORPHA:667
Holoprosencephaly
Encephalocele, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Aplasia/Hypoplasia of the cer... ORPHA:2162
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
7Q11.23 Microduplication Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly ORPHA:96121
Fanconi Anemia, Complementation Group L
Hydrocephalus, Cerebellar hypoplasia OMIM:614083
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Malabsorption, Intestinal perforation, Ragged... OMIM:603041
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:2462
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum, Cerebellar cyst OMIM:311200
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Esophageal neoplasm, Cheilitis, Oligozoospermi... ORPHA:125
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Raine Syndrome
Neonatal death, Hydrocephalus OMIM:259775
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Peripheral axonal neuropathy, Tented upper lip vermilion, Intestinal pse... ORPHA:273
Marshall-Smith Syndrome
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:602535
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly OMIM:618188
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
H Syndrome
Hydrocephalus ORPHA:168569
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Hurler Syndrome
Hydrocephalus ORPHA:93473
Meningioma
Abnormal cerebellum morphology, Hydrocephalus, Brain stem compression ORPHA:2495
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Cystinosis, Nephropathic
Male infertility, Skeletal muscle atrophy, Retinal pigment epithelial mottling, Myopathy, Pigment... OMIM:219800
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia OMIM:306955
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus OMIM:300373
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Coccidioidomycosis
Eosinophilia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, In... ORPHA:228123
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Trisomy 8P
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:264450
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:220386
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Cerebellar hypoplasia ORPHA:163979
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Agenesis of corpus callosum OMIM:227646
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Meckel Syndrome
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation ORPHA:564
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Holoprosencephaly 9
Holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:610829
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Optic atrophy, Abnormal retinal morphology ORPHA:2785
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Chiari type I malformation, Agenesis of corpus callosum, Ventriculom... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Chiari type I malformation, Agenesis of corpus callosum, Ventriculom... ORPHA:363958
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Chiari malformation, Stillbirth ORPHA:95699
Craniopharyngioma
Hydrocephalus ORPHA:54595
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Cerebellar cortical atrophy OMIM:619321
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Chiari malformation, Communicating hydrocephalus ORPHA:309282
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Cryptorchidism, Malrotation of small b... OMIM:606170
Hajdu-Cheney Syndrome
Hydrocephalus, Chiari malformation ORPHA:955
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Cryptococcosis
Hydrocephalus ORPHA:1546
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Attenuation of retinal blood vessels OMIM:266920
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth, Cerebellar hypoplasia OMIM:208150
Costello Syndrome
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly OMIM:218040
Metachromatic Leukodystrophy
Dystonia, Abnormal stomach morphology, Decreased nerve conduction velocity, Tremor, Abnormal duod... ORPHA:512
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly ORPHA:457359
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Oeis Complex
Hydrocephalus, Chiari malformation, Myelomeningocele OMIM:258040
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Osteogenesis Imperfecta
Brain stem compression, Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Chiari... ORPHA:573278
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Loeys-Dietz Syndrome 1
Hydrocephalus, Chiari malformation OMIM:609192
Fontaine Progeroid Syndrome
Neonatal death, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia OMIM:612289
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Hydrolethalus Syndrome 1
Anencephaly, Stillbirth, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malforma... OMIM:236680
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Fanconi Anemia
Hydrocephalus, Spina bifida, Ventriculomegaly ORPHA:84
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly OMIM:619475
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele ORPHA:567
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2556
Baller-Gerold Syndrome
Spina bifida occulta, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum OMIM:218600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2072
Yunis-Varon Syndrome
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:3472
Focal Dermal Hypoplasia
Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agenesis of corpus ca... OMIM:305600
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:264090
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mild fetal ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis ... OMIM:619841
Wolf-Hirschhorn Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Fraser Syndrome 1
Encephalocele, Hydrocephalus, Myelomeningocele OMIM:219000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Abnormality of visual evoked potentials OMIM:203700
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Coffin-Siris Syndrome 12
Chiari malformation, Enlarged cerebellum, Noncommunicating hydrocephalus OMIM:619325
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Loeys-Dietz Syndrome 2
Hydrocephalus, Chiari malformation OMIM:610168
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Wiedemann-Rautenstrauch Syndrome
Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:3455
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hydrocephalus OMIM:175780
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Peters Plus Syndrome
Hydrocephalus, Spina bifida occulta, Ventriculomegaly ORPHA:709
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Peters-Plus Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:312870
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Carious teeth, Eruption failure, Short dental root, Muscle fiber atroph... OMIM:182250
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele, Stillbirth OMIM:268300
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum OMIM:164210
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pomgnt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pomgnt1.

No publications found that use IMPC mice or data for Pomgnt1.

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MGI Allele Allele Type Produced
Pomgnt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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