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Gene: Fkrp MGI:2447586

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

fukutin related protein

Synonyms:

LGMD1I, MDC1C, A830029B19Rik

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 Fkrp 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.

Human diseases associated with Fkrp (9 diseases)
Human diseases predicted to be associated with Fkrp (1896 diseases)

The table below shows human diseases associated to Fkrp by orthology or direct annotation.

Disease	Matching phenotypes	Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Simplified gyral patt...	OMIM:613153
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Elevated circulating creatine kinase concentration, Hypoplasia of the po...	ORPHA:370959
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Microcephaly, Fatty replacement of s...	ORPHA:370980
Walker-Warburg Syndrome	Skeletal muscle atrophy, Anophthalmia, Chorioretinal dysplasia, Microcornea, Abnormal optic nerve...	ORPHA:899
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox...	ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinase concentration, P...	OMIM:606612
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Cerebellar vermis hypoplasi...	ORPHA:370968
Muscle-Eye-Brain Disease	Cataract, Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Optic a...	ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achilles tendon con...	OMIM:607155

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

Disease	Matching phenotypes	Source
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
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, 5	Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Simplified gyral patt...	OMIM:613153
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Elevated circulating creatine kinase concentration, Hypoplasia of the po...	ORPHA:370959
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
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
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
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
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	OMIM:615181
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Elevated circulating creatine kina...	OMIM:613155
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ...	OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Elevated circulating creatine kinase concentration, Partial agenesis of ...	OMIM:614643
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Fiber type grouping	OMIM:614369
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Retinal dysplasia, Muscular dystroph...	OMIM:614830
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Elevated circulating creatine kinase concentration, Microcephaly, Hypoplasia of the pons, Optic a...	OMIM:613151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Poor head control, Cataract, Elevated circulating creatine kinase concentration, Type II lissence...	OMIM:615249
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Microcephaly, Fatty replacement of s...	ORPHA:370980
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating creatine kinase concentration, Type II lissencephaly, Hypo...	OMIM:613154
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Walker-Warburg Syndrome	Skeletal muscle atrophy, Anophthalmia, Chorioretinal dysplasia, Microcornea, Abnormal optic nerve...	ORPHA:899
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Myopathy, Myofibrillar, 2	Cataract, Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory...	OMIM:608810
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Pontocerebellar Hypoplasia, Type 12	Hypoplasia of the brainstem, Cerebellar hypoplasia, Lateral ventricle dilatation	OMIM:618266
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Type II lissencephaly...	ORPHA:272
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Elevated circulating creatine kin...	OMIM:601846
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Myasthenic Syndrome, Congenital, 13	Muscle fiber tubular inclusions	OMIM:614750
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Developmental cataract, Retinal dy...	ORPHA:324416
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Pachy...	OMIM:608840
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Bulbar palsy, Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Decr...	OMIM:603511
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebellar vermis hypoplasia, Facial palsy, Elevated circulating creatine kinase concentration, M...	OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Elevated circulating creatine kinase concentration, Congenital contractu...	OMIM:236670
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Centrally nucleated skeletal muscle fibers, Microce...	ORPHA:401768
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Poor head control, Cerebellar vermis hypoplasia, Retinal dystrophy, Elevated circulating creatine...	OMIM:616538
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am...	ORPHA:399081
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
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
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
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
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, 14	Hypoglycosylation of alpha-dystroglycan, Poor head control, Cataract, Elevated circulating creati...	OMIM:615350
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology	ORPHA:2703
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P...	OMIM:613530
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype...	OMIM:158900
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E...	OMIM:619566
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture...	ORPHA:280333
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degene...	ORPHA:77299
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers...	OMIM:616228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypoplasia of the py...	OMIM:253800
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Congenital contracture, Hypoplasia of the bra...	OMIM:613150
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the pons, Degeneration of anterior horn cells, Hypoplasia of the ventral pons, Late...	OMIM:607596
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
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
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
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Cataract, Elevated circulating creatine kinase concentra...	OMIM:615352
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M...	ORPHA:86812
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox...	ORPHA:34515
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Band Heterotopia	Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:600348
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	OMIM:619473
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Muscular Dystrophy, Congenital, 1B	Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Achilles tendon co...	OMIM:604801
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat...	ORPHA:399086
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Abnormal cortical gyration, Respiratory insuf...	OMIM:607855
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinase concentration, P...	OMIM:606612
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, Myopathy,...	OMIM:167320
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance	ORPHA:178145
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion con...	OMIM:614833
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl...	ORPHA:171680
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl...	OMIM:613818
Dpm3-Cdg	Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin...	ORPHA:263494
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Claw hand deformity, Lower limb muscle weakness, Optic atrophy, Upper limb mus...	OMIM:618511
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Neck flexor weakness, Facial palsy, Poor head control, ...	OMIM:602771
Optic Atrophy 11	Optic nerve hypoplasia, Microcephaly, Optic atrophy, Increased variability in muscle fiber diamet...	OMIM:617302
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila...	ORPHA:300573
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre...	OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Micr...	OMIM:609308
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Central Core Disease	Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea...	ORPHA:597
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Miyoshi Muscular Dystrophy 3	Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ...	OMIM:613319
Myasthenic Syndrome, Congenital, 12	Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph...	OMIM:610542
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoglycosylation of alpha-dystroglycan, Poor head control, Cerebellar vermis hypoplasia, Retinal...	ORPHA:370997
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Distal amyotrophy, Muscle wea...	OMIM:615043
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic cor...	OMIM:618276
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Elevated circulating cr...	OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, G...	OMIM:601287
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Myopathy, Myofibrillar, 6	Scapular winging, Distal muscle weakness, Facial palsy, Elevated circulating creatine kinase conc...	OMIM:612954
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overw...	ORPHA:486815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Hypoglycosylation of alpha-dystroglycan, Poor head control, Cataract, Elevated circulating creati...	OMIM:615351
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	OMIM:613723
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Cach Syndrome	Cerebellar atrophy, Cataract, Microcephaly, Flexion contracture, Optic atrophy, Nonketotic hyperg...	ORPHA:135
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:617066
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
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
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Death in early adulthood, Muscle fiber hyaline bodies, Elevated circulating creatine kinase conce...	OMIM:255160
Lissencephaly 8	Skeletal muscle atrophy, Occipital encephalocele, Cataract, Elevated circulating creatine kinase ...	OMIM:617255
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R...	OMIM:255310
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Cerebellar h...	OMIM:619302
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle...	OMIM:619903
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Tremor, Patent duc...	OMIM:608799
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Spastic Paraplegia 57, Autosomal Recessive	Hand muscle atrophy, Lower limb amyotrophy, Optic atrophy, Muscle weakness	OMIM:615658
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Developmental cataract, Retrocerebe...	OMIM:614219
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Lethal Congenital Contracture Syndrome 5	Death in infancy, Small for gestational age, Polyhydramnios, Centrally nucleated skeletal muscle ...	OMIM:615368
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Dandy-Walker Syndrome	Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Hy...	OMIM:220200
Congenital Myopathy 14	Hip contracture, Death in infancy, Proximal muscle weakness, Respiratory insufficiency due to mus...	OMIM:618414
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatine kinase concentrati...	ORPHA:62
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Scapulope...	OMIM:613205
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Proximal amyotrophy...	OMIM:612998
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Microphthalm...	OMIM:218670
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo...	OMIM:158901
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ...	OMIM:611588
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy	OMIM:255100
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:248800
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620138
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Limb-girdle muscle weakness, Gowers sign, Muscular dystrophy, Elevated circulating creatine kinas...	OMIM:616094
Myopathy, Centronuclear, 2	Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:255200
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Hypop...	OMIM:620157
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Cataract, Macular atrophy, Microcephaly, Hypoplasia of the...	OMIM:616171
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:614019
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Lateral ventricle dilatation	OMIM:615889
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
X-Linked Centronuclear Myopathy	Polyhydramnios, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type ...	ORPHA:596
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc...	ORPHA:1528
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Abnormal retinal morphology, Facial palsy, Hand muscle weak...	ORPHA:254886
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m...	ORPHA:1532
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Secondary mic...	OMIM:607432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Hypoplasia of the brainstem, Retinal dysplasi...	OMIM:253280
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Miscarriage, Centrally nuc...	ORPHA:169189
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Mol...	OMIM:608629
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont...	OMIM:256030
Myopathy, Myofibrillar, 8	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:617258
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo...	OMIM:620351
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Elevated circulating creat...	OMIM:310095
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Cataract, Microcephaly, Optic atrophy, Myopathy, Abnormal circulating cr...	ORPHA:559
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Cerebellar vermis hypoplasi...	ORPHA:370968
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Generalized muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration	OMIM:613152
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Tremor, Simplified gyral p...	OMIM:615574
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Macroglossia, Calf m...	OMIM:616827
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Hypoplasia of the brainstem, Occipital encephalocele, Cerebellar hypoplasia	ORPHA:352682
Stromme Syndrome	Cerebellar vermis hypoplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Hydro...	OMIM:243605
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Limb joint contracture, Failure to thrive in infancy, Ankle flexion...	ORPHA:284417
Muscular Dystrophy, Becker Type	Muscle weakness, Calf muscle pseudohypertrophy, Muscular dystrophy, Elevated circulating creatine...	OMIM:300376
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Microcephaly, Partial agenesis of the corpus...	ORPHA:79243
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Lateral vent...	OMIM:617751
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Leber Hereditary Optic Neuropathy	Myopathy	ORPHA:104
Congenital Myopathy 10A, Severe Variant	Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finge...	OMIM:614399
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Martsolf Syndrome 2	Cataract, Camptodactyly of finger, Microcephaly, Developmental cataract, Lateral ventricle dilata...	OMIM:619420
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy...	ORPHA:2596
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Isolated Glycerol Kinase Deficiency	Myopathy	ORPHA:408
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Poor head control, Microcephaly, Decreased nerve conduction velocity, Abnormal...	ORPHA:565624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la...	OMIM:617087
Ribose 5-Phosphate Isomerase Deficiency	Optic atrophy, Increased level of ribose in CSF, Increased level of D-threitol in CSF, Decreased ...	OMIM:608611
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplas...	ORPHA:496790
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle fiber necrosis, Generalized amyotrophy,...	OMIM:607459
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Dpm1-Cdg	Cerebellar atrophy, Abnormal dentate nucleus morphology, Elevated circulating creatine kinase con...	ORPHA:79322
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentrati...	OMIM:613158
King-Denborough Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P...	OMIM:619542
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro...	OMIM:256850
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Microcephaly, Gray mat...	OMIM:611603
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Elevated circulating creatine kinase concentration, Fle...	OMIM:253600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Elevated circulatin...	OMIM:606070
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Cerebellar vermis hypoplasia, Dystonia, Optic nerve hypoplasia, Partial agenesis of ...	ORPHA:300570
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi...	ORPHA:101085
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	OMIM:615980
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Cerebellar vermis hypoplasia, Respiratory i...	OMIM:618291
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Cataract, Microcephaly, Periventricular heterotopia, Retinal pigment epit...	OMIM:614105
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Proximal muscle weakness, R...	OMIM:254090
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Microcephaly, Tremor, Hydrocephalus, Elbow flexion contracture, Optic atrophy, Simplified gyral p...	OMIM:619470
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Death in infancy, Microcephaly, Simplified gyral pattern, Lateral ventr...	OMIM:617668
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Distal amyotrophy, Hypoplasia of...	ORPHA:468661
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Abnormally large globe, Hypo...	OMIM:300749
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma, Olivopontocerebellar atrophy, Cerebral cortical atrophy, V...	ORPHA:2732
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:258450
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Hypopl...	OMIM:618677
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep...	OMIM:618890
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m...	ORPHA:99947
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Chorioretin...	ORPHA:163937
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m...	OMIM:619517
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P...	OMIM:619518
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Death in infancy, Ventriculomegaly, Dystonia, Poor head control, Microcephaly...	OMIM:616034
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Optic nerve hypoplasia, Elevated circulating creatine kinase concentra...	OMIM:301056
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Simplified gyral pattern, Knee flexion contr...	ORPHA:468631
S-Adenosylhomocysteine Hydrolase Deficiency	Poor head control, Elevated circulating creatine kinase concentration, Abnormal circulating homoc...	ORPHA:88618
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur...	OMIM:620389
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Neonatal death, Micro...	ORPHA:85284
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos...	OMIM:616602
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy...	OMIM:301830
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Mucolipidosis Iv	Cerebellar atrophy, Corneal opacity, Microcephaly, Dysplastic corpus callosum, Optic atrophy, Opa...	OMIM:252650
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Muscular dystrophy, Elevated circulating creatine kinase concentration	OMIM:613869
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Cataract, Hydrocephalus, Subcortical band ...	OMIM:615191
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia,...	OMIM:620155
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Dandy-Walker ...	OMIM:618606
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
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Poor head control, Cerebellar vermis hypoplasia, Tr...	ORPHA:572798
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia, Microcephaly	OMIM:618572
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Chromosome 19P13.13 Deletion Syndrome	Optic nerve hypoplasia, Microcephaly, Optic atrophy, Chiari type I malformation, Ventriculomegaly	OMIM:613638
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog...	ORPHA:169186
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy	ORPHA:91130
Fried Syndrome	Skeletal muscle atrophy, Hydrocephalus, Abnormal optic nerve morphology, Abnormal cerebellum morp...	ORPHA:85335
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy, Muscle weakness	OMIM:253590
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Lisse...	ORPHA:2185
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Microcephaly, Optic atrophy, Contractures of...	ORPHA:3078
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Dysplastic corpus callosum, Flexion contracture, Optic atrophy, Hypoplas...	OMIM:613162
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella...	OMIM:304100
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Facial hypotonia, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, In...	OMIM:618381
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Microcephaly, Proximal muscle weakness, Myopathy, Abnormal circulating creatine kinase ...	ORPHA:369840
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Microcephaly, Periventricular heterotopia, Polymicro...	ORPHA:1083
Squalene Synthase Deficiency	Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol concentratio...	OMIM:618156
Myoclonus, Intractable, Neonatal	Optic disc pallor, Microcephaly, Athetosis, Hypoplasia of the corpus callosum, Increased variabil...	OMIM:617235
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Developmental And Epileptic Encephalopathy 36	Microcephaly, Hydrocephalus, Flexion contracture, Optic atrophy, Cerebral atrophy	OMIM:300884
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy	OMIM:254100
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Camptodactyly of finger, Optic atrophy, Flexion contracture of toe, Ventricul...	OMIM:619323
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gliosis	OMIM:221770
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Hyperammonemia, Subependymal cysts, Lateral ventricle dila...	OMIM:610015
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter	OMIM:613752
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Frontal...	ORPHA:228384
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:157973
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content	OMIM:610717
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Death in infancy, Hypoplasia of the pons, Elbow flexion contracture, Optic at...	OMIM:619303
Nemaline Myopathy 10	Skeletal muscle atrophy, Death in infancy, Bulbar palsy, Facial palsy, Fatty replacement of skele...	OMIM:616165
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Edema, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fin...	OMIM:619574
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Progressive external ophthalmoplegia, Cataract, Lower limb muscle weakness, Limb-girdle muscle we...	ORPHA:329314
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Muscular Dystrophy, Mabry Type	Late-onset muscular dystrophy	OMIM:310000
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Rhegmatogenous retinal detachment, Peripheral retinal av...	ORPHA:891
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal ...	OMIM:300219
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy	OMIM:618236
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Autosomal Recessive Spastic Paraplegia Type 11	Peripheral axonal neuropathy, Orthostatic hypotension, Abnormal substantia nigra morphology, Over...	ORPHA:2822
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia	OMIM:618174
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Flexion contracture	OMIM:618237
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Elevated circulating creatine kinase concentration	OMIM:309930
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microcephaly, Colpocephaly, Chiari malformation, Astigmatism, Decreased b...	OMIM:609053
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Optic atrophy, Distal ...	OMIM:617207
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Congenital muscular dystrophy	OMIM:254000
Intellectual Developmental Disorder, Autosomal Dominant 56	Pontocerebellar atrophy, Lateral ventricle dilatation	OMIM:617854
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
Congenital Myopathy 2A, Typical, Autosomal Dominant	Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici...	OMIM:161800
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Hypoplasia of the corpus callosum, Po...	ORPHA:101029
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Malan Overgrowth Syndrome	Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia	ORPHA:488635
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode...	ORPHA:324604
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Generalized muscle weakness, Death in childhood, Neonatal death, Increased vari...	OMIM:614096
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Abnormal cerebellum morphology, Optic atrophy, Leg muscle stiffness...	ORPHA:320360
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI signal intensity, Int...	ORPHA:258
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:616239
Congenital Myopathy 24	Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance	OMIM:617336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness	OMIM:615156
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia, Distal upper limb muscle weakness, Hypoplasia of the corpus callosum, Dis...	OMIM:615033
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Cerebral atrophy, Lower ...	OMIM:617296
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Corpus...	OMIM:619389
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Dystonia, Distal lower limb mus...	ORPHA:459033
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Cerebellar hy...	OMIM:617914
Sialidosis Type 2	Skeletal muscle atrophy, Corneal opacity, Tremor, Flexion contracture, Muscle weakness, Abnormal ...	ORPHA:87876
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Yoon-Bellen Neurodevelopmental Syndrome	Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Failure to thri...	OMIM:619701
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers, Ophthalmoplegia...	OMIM:271245
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Optic...	OMIM:615035
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Pigmentary retinop...	OMIM:252011
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Abnormality of neuronal migration, Ventriculomegaly, Microcephaly	ORPHA:1980
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a...	ORPHA:206559
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Microcephaly, ...	OMIM:222765
Harel-Yoon Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental c...	OMIM:617183
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Pachygyria, Cerebral atrophy, Hypop...	OMIM:612513
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal...	ORPHA:1473
Slc35A2-Cdg	Cerebellar atrophy, Limb joint contracture, Camptodactyly of finger, Failure to thrive in infancy...	ORPHA:356961
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Cerebral atrophy, In...	ORPHA:255182
Nescav Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Microcephaly, Flexion contracture, Optic atroph...	OMIM:614255
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Microcephaly, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Hypoplasia of...	OMIM:615411
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinas...	ORPHA:370022
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Kleeblattschaedel	Hydrocephalus	OMIM:148800
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
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Increased CSF lactate, Choreoathetosis, Aplasia of the left hemid...	OMIM:618238
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy	OMIM:204730
Muscle-Eye-Brain Disease	Cataract, Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Optic a...	ORPHA:588
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle...	ORPHA:99013
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Cofs Syndrome	Abnormality of retinal pigmentation, Death in infancy, Cataract, Camptodactyly of finger, Microce...	ORPHA:1466
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy	OMIM:616549
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske...	OMIM:613327
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma...	ORPHA:99939
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy	ORPHA:26792
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn...	ORPHA:163961
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Pontocerebellar Hypoplasia Type 10	Poor head control, Optic atrophy, Simplified gyral pattern, Abnormal brainstem morphology	ORPHA:411493
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor, Lower limb muscle weakness, Abnormal cerebellum morphology, Optic atro...	OMIM:270800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Cerebellar hypoplasia	ORPHA:401815
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Microcephaly, Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nod...	OMIM:608097
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Limb muscle weakness, Nemaline bodies	OMIM:606842
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Congenital muscular dystrophy	ORPHA:1875
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy	OMIM:232400
Axial Osteomalacia	Myopathy	OMIM:109130
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Distal a...	OMIM:311070
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib...	OMIM:601462
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Large for gestational age	ORPHA:2432
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus call...	OMIM:617864
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia	OMIM:617562
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Elbow flexion contracture, Calf muscle hypertrophy, Absent muscle dys...	ORPHA:206546
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Bulbar palsy, Iris hypopigmentation, Facial palsy, Ca...	ORPHA:97229
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranenceph...	OMIM:225790
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal mu...	ORPHA:52430
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Joubert Syndrome 30	Cerebellar atrophy, Dandy-Walker malformation, Molar tooth sign on MRI, Superior cerebellar dyspl...	OMIM:617622
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Proximal muscle weakness, Tremor, Gowers sign, Increased variability in muscle...	ORPHA:502423
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath...	ORPHA:447788
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,...	OMIM:600118
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Peripheral axonal neuropathy, Hypoplasia of the pons, Optic atrophy, Deg...	ORPHA:2254
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcephaly, Chorioretin...	OMIM:152950
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy	ORPHA:352447
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Agenesis of corpus callosum, Joint contracture, Optic atrophy	OMIM:618324
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Neu-Laxova Syndrome	Skeletal muscle atrophy, Ventriculomegaly, Cataract, Abnormal cortical gyration, Spina bifida, Mi...	ORPHA:2671
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in...	ORPHA:98755
Trichothiodystrophy 5, Nonphotosensitive	Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Progressive microcephaly, Cerebellar hyp...	OMIM:300953
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Respiratory in...	OMIM:310200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morp...	ORPHA:397715
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p...	ORPHA:431329
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
White-Sutton Syndrome	Failure to thrive, Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Mic...	OMIM:616364
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Optic nerve hypoplasia	OMIM:614306
Autosomal Recessive Spastic Paraplegia Type 45	Flexion contracture of toe, Optic atrophy, Ankle flexion contracture, Knee flexion contracture	ORPHA:320396
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy, Lower limb muscle weakness	OMIM:620312
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the corp...	ORPHA:401777
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia, Large for gestational age	ORPHA:137634
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Elevated circu...	OMIM:616479
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Chiari malformation, Frontal encephalocele	ORPHA:261102
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,...	ORPHA:330050
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy	OMIM:618234
1Q21.1 Microduplication Syndrome	Arthrogryposis multiplex congenita, Hydrocephalus, Failure to thrive, Cataract	ORPHA:250994
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Microcephaly, Optic atrophy, Death in childhood, Parietal cortical atrophy, Art...	OMIM:618766
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo...	ORPHA:280195
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	OMIM:300653
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Retinopathy, Microcephaly	ORPHA:26
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera...	OMIM:608930
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Keratoconus, Cataract, Aplasia/Hypoplasia of ...	ORPHA:65
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,...	OMIM:608931
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali...	OMIM:617519
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Microcep...	OMIM:619026
Aicardi-Goutieres Syndrome 9	Microcephaly, Optic atrophy, Chorioretinal atrophy, Cerebral atrophy, Weight loss, Lateral ventri...	OMIM:619487
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber...	OMIM:620080
Alexander Disease	Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology	OMIM:203450
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit...	ORPHA:319514
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature	ORPHA:254875
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Spastic Ataxia-Corneal Dystrophy Syndrome	Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Spastic Paraplegia 2, X-Linked	Skeletal muscle atrophy, Abnormal cerebellum morphology, Flexion contracture, Optic atrophy, Lowe...	OMIM:312920
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Periventricular heterotopia, Colpocephaly, Astigmatism, Hypoplasia of the...	ORPHA:261250
Peho-Like Syndrome	Cerebellar atrophy, Ventriculomegaly, Optic atrophy, Lissencephaly, Hypoplasia of the corpus call...	OMIM:617507
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Bilateral Generalized Polymicrogyria	Total ophthalmoplegia, Oculogyric crisis, Microcephaly, Lateral ventricle dilatation, Hypoplasia ...	ORPHA:208447
Septooptic Dysplasia	Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Cataract, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, ...	OMIM:619527
Cog5-Cdg	Cerebellar atrophy, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:263487
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Pontocerebellar Hypoplasia, Type 9	Peripheral axonal neuropathy, Facial hypotonia, Hypoplasia of the pons, Optic atrophy, Macrogloss...	OMIM:615809
Fg Syndrome Type 1	Progressive flexion contractures, Optic nerve hypoplasia, Abnormal cerebellum morphology, Hydroce...	ORPHA:93932
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th ...	OMIM:618914
Aicardi Syndrome	Retinal detachment, Cerebellar vermis hypoplasia, Cataract, Spina bifida, Microcephaly, Pachygyri...	OMIM:304050
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Camptodactyly of finger, Facial palsy, Microcephaly, Optic atrophy, Cereb...	ORPHA:261349
Neuromuscular Oculoauditory Syndrome	Poor head control, Elevated circulating creatine kinase concentration, Periventricular heterotopi...	OMIM:618733
Nabais Sa-De Vries Syndrome, Type 1	Simplified gyral pattern, Optic nerve hypoplasia, Primary microcephaly	OMIM:618828
Narp Syndrome	Optic disc pallor, Proximal muscle weakness, Retinal arteriolar tortuosity, Retinal pigment epith...	ORPHA:644
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus	OMIM:618302
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly	OMIM:617397
Tatton-Brown-Rahman Syndrome	Chiari type I malformation, Optic nerve hypoplasia, Ventriculomegaly	OMIM:615879
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp...	OMIM:614815
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
D-Glyceric Aciduria	Optic nerve hypoplasia, Microcephaly, Patent ductus arteriosus, Nonketotic hyperglycinemia, Opist...	OMIM:220120
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Myasthenic Syndrome, Congenital, 6, Presynaptic	Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy	OMIM:254210
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot...	OMIM:611134
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Xanthinuria, Type I	Myopathy	OMIM:278300
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Peripheral axonal neuropathy, Elevated circulating creatine k...	OMIM:615673
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Cataract, Microcephaly, Periventricular heterotopia, Hydrocephalus, Optic atr...	OMIM:619833
Spastic Paraplegia 75, Autosomal Recessive	Distal lower limb amyotrophy, Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Astigma...	OMIM:616680
Hemimegalencephaly	Optic atrophy, Gray matter heterotopia, Oculomotor nerve palsy, Pachygyria, Polymicrogyria, Ventr...	ORPHA:99802
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Abnormal brainstem morphology, Generalized amyotrophy, Aplasia/Hypoplasia of the c...	ORPHA:79279
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Polyhydramnios, Centrally nucleated ske...	OMIM:616503
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Optic atrophy, Generalized amyotro...	OMIM:619686
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Glutaric Acidemia I	Hydrocephalus, Opisthotonus, Choreoathetosis, Symmetrical progressive peripheral demyelination, L...	OMIM:231670
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fle...	ORPHA:1692
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Flexion contracture...	ORPHA:141
Ceroid Lipofuscinosis, Neuronal, 1	Flexion contracture, Optic atrophy, Cerebral atrophy, Macular degeneration, Progressive microceph...	OMIM:256730
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Optic atrophy, Increased CSF lactate, Athetosis, Leber optic atrophy, Dy...	OMIM:500001
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Sialidosis Type 1	Skeletal muscle atrophy, Cataract, Corneal opacity, Decreased nerve conduction velocity, Tremor, ...	ORPHA:812
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
19P13.13 Microdeletion Syndrome	Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Chiari type I malformation, Macro...	ORPHA:357001
Cardiofaciocutaneous Syndrome 4	Cerebellar hypoplasia, Cataract, Optic nerve hypoplasia	OMIM:615280
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Optic disc pallor, Poor head control, Hypoplasia of the pons, Atrophy/Degener...	OMIM:608027
Phace Association	Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Horner syndrome, Developmental c...	OMIM:606519
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Aplasia/Hypoplasia of the cerebellum, Pachygyria, Optic nerve hypoplasia	ORPHA:572013
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Microphthalmia, Failure to thrive, Agenesis of cor...	OMIM:274270
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Nonprogressive restrictive external ophthalmoplegia, Optic nerve hypoplasi...	ORPHA:45358
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Astigmatism, Optic nerve hypoplasia, Hyperopic astigmatism	ORPHA:363686
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achilles tendon con...	OMIM:607155
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Ventr...	OMIM:619479
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Failure to thrive in infancy, Microcephaly, Hydrocephalus, M...	ORPHA:858
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Generalized muscle weakness, Optic atrophy, Cerebral atrophy, Increased CSF lactate...	OMIM:615330
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Obesity, Aplasia/Hypoplasia of the cerebellum, Age...	ORPHA:3157
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Small for gestational age, Microcephaly, Cerebral atrophy, Opisthotonus, Death in ...	OMIM:619847
Acromelic Frontonasal Dysostosis	Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Choroid plexus cy...	OMIM:603671
Neuroectodermal Melanolysosomal Disease	Tremor, Optic atrophy, Subcortical cerebral atrophy, Abnormal optic nerve morphology, Cerebellar ...	ORPHA:33445
Microcephaly, Amish Type	Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, F...	OMIM:607196
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis...	OMIM:615960
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Microcephaly, Increased circulating ferritin concentration, Progressive muscle ...	OMIM:600462
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus cal...	OMIM:616212
Diencephalic Syndrome	Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Poor head control, Dystonia, Optic atrophy, Secondary microcephaly, Atrophy/D...	OMIM:617954
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Facial hypotonia, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypopla...	ORPHA:457284
Verheij Syndrome	Small for gestational age, Optic nerve hypoplasia, Cerebral atrophy, Microcephaly	OMIM:615583
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Microcephaly, Simplified gyral pattern, Abnormality of neuronal migration, Gra...	OMIM:604317
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Cerebellar atrophy, Optic disc pallor, External ophthalmoplegia, Optic atrophy, Secondary microce...	OMIM:617086
Spinocerebellar Ataxia With Epilepsy	Myopathy	ORPHA:254881
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Paucity of anterior horn motor neu...	OMIM:253310
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy	ORPHA:166002
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Abnormal cerebellum morphology, Optic atrophy, Cerebral atrophy, Macular degeneration, ...	OMIM:204200
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tremor, Retrobulbar optic neuritis, Dysplastic corpus callosum, Obesity, Secon...	OMIM:619737
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Optic nerve hypoplasia	ORPHA:65288
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Central Precocious Puberty In Male	Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Joubert Syndrome 9	Molar tooth sign on MRI, Encephalocele, Ventriculomegaly	OMIM:612285
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Cerebellar atrophy, Death in infancy, Cerebral atrophy, Increased CSF l...	OMIM:604377
Glycogen Storage Disease Xv	Scapular winging, Type 1 muscle fiber predominance	OMIM:613507
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Corneal opacity, Flexion contracture, Simplified gyral pattern, Developmental c...	OMIM:618815
Periventricular Nodular Heterotopia 7	Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con...	OMIM:617201
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Hydrocephalus, Camptodactyly of toe, Joint contracture of the h...	OMIM:175700
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel...	OMIM:618889
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy...	OMIM:220220
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Cachexia, Ragged-red muscle fibers, Generalized muscle weak...	OMIM:613662
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Optic atrophy, Skeletal muscle hypertrophy, Abnormal nerve conduction velocity, Muscle we...	ORPHA:99014
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Cerebral atrophy, ...	OMIM:614969
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance	OMIM:619028
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration, Microcephaly	OMIM:614322
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Hydrocephalus, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Cataract, Secondary microcephaly, Cerebellar hypoplasia, Neo...	OMIM:613730
Distal Deletion 10Q	Scapular winging, Microcephaly, Patent ductus arteriosus, Spina bifida occulta, Facial diplegia, ...	ORPHA:96148
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Tremor, Optic atrophy, Cer...	OMIM:617710
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Dystonia, Corneal opacity, Dysplastic cor...	ORPHA:357058
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Spina bifida, Microcephaly, Abnormal optic disc morphology,...	ORPHA:508498
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:300804
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Microphthalmia, Syndromic 5	Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia	OMIM:610125
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul...	ORPHA:157
Immunodeficiency 10	Myopathy	OMIM:612783
Hemangioblastoma	Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma	ORPHA:252054
Familial Isolated Hypoparathyroidism	Myopathy	ORPHA:2238
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Flexion contracture, Opti...	OMIM:619321
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Cystinosis	Corneal opacity, Myopathy, Hypokalemia, Hypophosphatemia, Failure to thrive, Retinopathy, Muscle ...	ORPHA:213
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Skeletal muscle atrophy, Optic atrophy, Left ventricular hypertrophy, Failure ...	OMIM:618228
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Generalized limb muscle atrophy, Distal lower limb muscle weakness, Cerebellar ver...	ORPHA:466794
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Elevated circulating crea...	OMIM:615084
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Optic atrophy, Myopathy, Abnormal retinal nerve fiber layer morpholo...	ORPHA:1215
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus	OMIM:612863
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot...	OMIM:614175
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy	OMIM:613077
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Flexion contracture, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia of the corp...	ORPHA:2148
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Vitamin K Antagonist Embryofetopathy	Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Macroglossia, Aplasia/Hypoplasia affect...	ORPHA:1914
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Torticollis, Bulbar palsy, Optic atrophy, Unilateral facial palsy, Astigmatis...	OMIM:618547
Pancreatic And Cerebellar Agenesis	Death in infancy, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Flexion co...	OMIM:609069
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Hydrocephalus, Optic atrophy, Microcornea, Microphthalmia, Agene...	ORPHA:3301
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Pachygyria, Agenesis of corpus callosum, Death in infancy, Brushfi...	OMIM:614866
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia	ORPHA:2246
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, ...	OMIM:206900
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Corneal opacity, Congenital diaphragmatic hernia, Hydrocephalus, Aplasia/Hypopl...	ORPHA:1647
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop...	ORPHA:457205
Myopathy, Mitochondrial, And Ataxia	Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Distal amyotr...	OMIM:617675
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Retinal dystrophy, Microcephaly, Optic atrophy, Athetosis, Hypoplasia of the ...	OMIM:614559
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	ORPHA:713
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Developmental cataract, Colp...	OMIM:618651
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Agenesis...	OMIM:207950
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Retinal vascular mal...	ORPHA:42775
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Abnormal retinal morphology, 4-layered lissencephaly, Abnormality of neuronal...	ORPHA:89844
Adrenomyodystrophy	Myopathy	ORPHA:977
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Microcephaly, Cer...	OMIM:611209
Vici Syndrome	Abnormality of retinal pigmentation, Death in infancy, Cataract, Hypoplasia of the pons, Optic at...	ORPHA:1493
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, O...	OMIM:612674
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy, Optic atrophy, Progressive microcephaly, Decreased body weight	ORPHA:477814
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Craniofacial Dyssynostosis With Short Stature	Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus	ORPHA:363717
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Bone spicule pigmentation of the retina, Decreased sensory nerve conduct...	OMIM:609033
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Tremor, External ophthalmoplegia, Optic atrophy, Cerebral atrophy, Choreoathetosis, Cer...	OMIM:619422
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Skeletal muscle atrophy, Cataract, Microcephaly, Optic atrophy, Hypoplasia of...	OMIM:617481
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Type 1 muscle fiber atrophy, Macroglossia, Gray matter hete...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Type 1 muscle fiber atrophy, Macroglossia, Gray matter hete...	ORPHA:352665
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Absent fo...	OMIM:204100
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Microcephaly, Optic atrophy, Hypoplasia of the corpus ...	ORPHA:1495
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Cachexia, ...	ORPHA:300605
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Skeletal muscle atrophy, Resting tremor, Cataract, Neck flexor weakness, F...	OMIM:157640
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased muscle mass, D...	ORPHA:298
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Leber Optic Atrophy	Myopathy	OMIM:535000
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the abd...	ORPHA:578
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse...	OMIM:500013
Chanarin-Dorfman Syndrome	Myopathy	OMIM:275630
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Patent ductus arter...	ORPHA:290
Striatonigral Degeneration, Infantile	Choreoathetosis, Failure to thrive, Optic atrophy, Dystonia	OMIM:271930
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpus callos...	OMIM:300887
Marshall-Smith Syndrome	Optic nerve hypoplasia, Pachygyria, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Ma...	OMIM:602535
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Death in childhood,...	OMIM:612301
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Elevated circulating acylcarnitine concentration, External...	OMIM:615838
Sengers Syndrome	Myopathy	OMIM:212350
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Brown-Vialetto-Van Laere Syndrome 2	Bulbar palsy, Facial palsy, Optic atrophy, Generalized amyotrophy, Neck muscle weakness, Limb mus...	OMIM:614707
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th...	OMIM:609583
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Elevated circulating creatine kinase concentration, Microcephaly, Flexion contracture, Muscle fib...	OMIM:620240
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Opacification of the corneal stroma, Dystonia,...	OMIM:230650
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Flexion contrac...	OMIM:618346
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Wide anterior fontanel, Optic atrophy, Abnormality...	ORPHA:44
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona...	ORPHA:254930
Congenital Disorder Of Glycosylation, Type Iu	Death in infancy, Elevated circulating creatine kinase concentration, Optic atrophy, Congenital c...	OMIM:615042
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Small for gestational ...	OMIM:619869
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Cerebellar hypoplasia	OMIM:618731
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Wide anterior fontanel, Lateral ventricle dilatation, Astigmatis...	ORPHA:457279
Madras Motor Neuron Disease	Bulbar palsy, Distal muscle weakness, Facial palsy, Abnormal cerebellum morphology, Optic atrophy...	ORPHA:137867
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Hypoplastic optic ...	OMIM:617669
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Spinocerebellar Ataxia 7	Tremor, Optic atrophy, Macular degeneration, Pigmentary retinopathy, Supranuclear ophthalmoplegia...	OMIM:164500
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Oculopharyngodistal Myopathy 1	Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase c...	OMIM:164310
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, S...	OMIM:245349
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Abnormal cereb...	ORPHA:544488
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Tremor, Abnormal cerebe...	ORPHA:137898
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Death in infancy, Elevated circulating creatine kinase concentration, Abnorma...	OMIM:614576
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Optic atrophy, Athetosis, Dystonia, Fa...	OMIM:619310
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Optic disc hypoplasia, Elevated circulating creatine kinase concent...	OMIM:619955
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Optic disc pallor, Microcephaly, Flexion contracture, Choroid plexus cyst, Death in adolescence, ...	OMIM:619076
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ...	ORPHA:220497
Leukoencephalopathy With Vanishing White Matter 4	Corpus callosum atrophy, Optic atrophy, Cerebral cortical atrophy, Ventriculomegaly	OMIM:620314
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Microcephaly, Microcornea, Chorioretinal...	ORPHA:139471
Warburg Micro Syndrome 3	Decreased muscle mass, Cataract, Microcephaly, Flexion contracture, Optic atrophy, Developmental ...	OMIM:614222
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Facial diplegia, Optic atrophy, Death in adolescence	OMIM:122860
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla...	OMIM:610688
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Lim...	ORPHA:2388
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Cataract, Morning glory anomaly, C...	ORPHA:98673
Hyperkalemic Periodic Paralysis	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:682
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Optic disc pallor, Cataract, Corneal opacity, Macroglossia, Subcortical cereb...	ORPHA:309288
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Ventriculomegaly, Death in infancy, Meningocele, Abnormality...	ORPHA:2481
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplas...	OMIM:605627
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Optic Pathway Glioma	Papilledema, Ophthalmoplegia, Hydrocephalus, Neurofibroma, Optic atrophy, Fatigable weakness	ORPHA:2086
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Fail...	OMIM:245200
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Optic atrophy, Distal ...	ORPHA:496756
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Ventriculomegaly, Dystonia, Small for gestational age, Cataract, Microcephaly...	OMIM:251300
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial abse...	OMIM:619895
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Flexion con...	OMIM:615663
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Mening...	OMIM:614424
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp...	ORPHA:397951
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Intention tremor, Flexion contracture, Optic nerve hypoplasia, Camptodactyly	OMIM:620029
Pallister-Hall-Like Syndrome	Chiari type I malformation, Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma	OMIM:241800
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Winchester Syndrome	Corneal opacity	OMIM:277950
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion contracture, Micro...	OMIM:210710
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Left ventricular hypertrophy	OMIM:618632
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy	ORPHA:1344
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration,...	OMIM:607426
Zellweger Syndrome	Death in infancy, Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Corneal opa...	ORPHA:912
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Skeletal muscle atrophy, Dilated fo...	OMIM:164400
Sarcosinemia	Hypersarcosinemia, Peroneal muscle weakness, Optic atrophy	ORPHA:3129
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Developmental cataract, Microcornea, Lateral ventricle dilatation...	ORPHA:464738
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Myopathy	ORPHA:42
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Buphthalmos, Hypoplasia...	OMIM:310600
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Chiari type I malformation, Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus	OMIM:619575
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Death in early adulthood, Cataract,...	ORPHA:192
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Macroglossia, Gray matter ...	OMIM:619775
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Abnormally large globe, Hydrocephalus, Knee flexion contracture, Hypopla...	OMIM:603387
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Death in infancy, Facial palsy, Elevated circulating creatine kinase concentration, Tremor, Gener...	OMIM:619424
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys...	ORPHA:8
Gm1 Gangliosidosis	Generalized dystonia, Corneal opacity, Camptodactyly of finger, Abnormal retinal vascular morphol...	ORPHA:354
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Overweight, Abnormal cerebellum morphology, Macroglossia, Abnormal circul...	ORPHA:226307
Den Hoed-De Boer-Voisin Syndrome	Microcephaly, Overweight, Tremor, Obesity, Death in adolescence, Lateral ventricle dilatation, Se...	OMIM:619229
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Patent ductus arteriosus, Optic ...	ORPHA:141099
Symmetrical Thalamic Calcifications	Failure to thrive, Abnormality of neuronal migration, Microcephaly	ORPHA:1314
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Tremor, Hy...	ORPHA:220493
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Cerebellar vermis hypoplasia, Facial hypotonia, Microcephaly, Optic atrophy, Hypoplasia of the br...	OMIM:617807
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Cataract, Corneal opacity, Rhabdomyosarcoma, Microcephaly, Aplasia/Hypoplasia o...	ORPHA:1052
Birk-Landau-Perez Syndrome	Dystonia, Facial hypotonia, Failure to thrive in infancy, Microcephaly, Optic atrophy, Hyperkalem...	OMIM:617595
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Multiple joint contractures, Corneal opacity, Optic nerve hypoplasia, P...	ORPHA:536471
Joubert Syndrome 1	Optic disc pallor, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Retinal dystro...	OMIM:213300
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Patent duc...	OMIM:301043
Ravine Syndrome	Decreased body weight, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atroph...	ORPHA:99852
Infantile Refsum Disease	Cataract, Facial palsy, Rod-cone dystrophy, Progressive muscle weakness, Optic atrophy, Elevated ...	ORPHA:772
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Death in infancy, Microcephaly, Tremor, Optic atrophy, Increased CSF lactate,...	OMIM:617664
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Retinal dystrophy...	OMIM:608091
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology...	ORPHA:467166
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,...	OMIM:300957
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy	ORPHA:363400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Microce...	ORPHA:495875
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li...	ORPHA:3208
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Microcephaly, Optic atrophy, Cerebral atrophy, Dystonia, Failure to thrive	OMIM:300475
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Hydrocephalus, Opti...	ORPHA:585
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Microcephaly, Knee flexion contracture, Gray matter heterotopia, Astigmatism, Camptodac...	OMIM:619694
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Optic disc pallor, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus c...	OMIM:617276
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Cerebellar gliosis, Flexion contracture...	OMIM:616505
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Partial agenesis ...	OMIM:610829
Joubert Syndrome 7	Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia	OMIM:611560
Myasthenic Syndrome, Congenital, 19	Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ...	OMIM:616720
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia...	ORPHA:101076
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Leigh Syndrome	Ophthalmoplegia, Optic atrophy, Increased CSF lactate, Hepatocellular necrosis, Pigmentary retino...	OMIM:256000
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb hypertonia, Lower limb muscle weakness, Optic atrophy, Generalized amyotrophy	ORPHA:1177
Behr Syndrome	Cerebellar atrophy, Tremor, Achilles tendon contracture, Optic atrophy, Hypoplastic optic chiasm,...	OMIM:210000
Immunodeficiency 9	Myopathy	OMIM:612782
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma	ORPHA:231736
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Large for gestational age, Microcephaly, Patent ductus arterio...	OMIM:300868
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Optic atrophy, Lissen...	ORPHA:99742
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Bainbridge-Ropers Syndrome	Death in infancy, Microcephaly, Contracture of the proximal interphalangeal joint of the 4th fing...	OMIM:615485
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brain...	OMIM:617822
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation	ORPHA:93262
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Cataract, Proximal muscle weakness, Progressive muscle weak...	OMIM:609286
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Failure to thrive, Small for gestational age, Corneal opac...	ORPHA:464311
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Optic atrophy, Upper limb muscle weakness, Lower limb hypertonia, Upper limb ...	OMIM:607259
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ventriculomegaly, Corneal opacity, Hydrocephalus, Cerebral atrophy, Increased...	OMIM:272200
Familial Infantile Bilateral Striatal Necrosis	Optic atrophy, Upper limb muscle weakness, Choreoathetosis, Atrophy/Degeneration involving the ca...	ORPHA:225154
Albers-Schönberg Osteopetrosis	Hydrocephalus, Hypocalcemia, Optic atrophy, Facial palsy	ORPHA:53
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Abnormal optic nerve morph...	ORPHA:506
Weaver Syndrome	Diastasis recti, Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar hypoplasia, C...	OMIM:277590
Marden-Walker Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Microcephaly, Hydrocephalus, Muscular dystrophy...	ORPHA:2461
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Developmental And Epileptic Encephalopathy 31B	Poor head control, Optic atrophy, Opisthotonus, Colpocephaly, Secondary microcephaly, Failure to ...	OMIM:620352
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, External ophthalmoplegia, Ophthalmoplegia, Optic atrophy, Facial diplegi...	OMIM:613559
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Tremor, Optic atrophy, Cerebral atrophy, Iron accumulation in substantia nigr...	ORPHA:329284
Pettigrew Syndrome	Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Aqueductal stenosis, Hydrocephalus,...	OMIM:304340
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Flexion contracture, Myopathy	OMIM:201470
Adrenal Hypoplasia, Congenital	Hyponatremia, Failure to thrive, Muscular dystrophy	OMIM:300200
Brachytelephalangic Chondrodysplasia Punctata	Patent ductus arteriosus, Cataract, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:79345
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Carnitine Deficiency, Systemic Primary	Myopathy, Reduced muscle carnitine level	OMIM:212140
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Congenital diaphragmatic hernia, Microcephaly, Sclerocornea, Hydrocephalus, Pigmentary ...	OMIM:309801
Myopathy, Centronuclear, X-Linked	Facial palsy, External ophthalmoplegia, Hydrocephalus, Flexion contracture, Generalized muscle we...	OMIM:310400
Maternal Hyperthermia-Induced Birth Defects	Aplasia/Hypoplasia affecting the eye, Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Skeletal muscle atr...	ORPHA:96
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Hydrocephalus, Optic atrophy, Developmental c...	ORPHA:93400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:175780
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Cataract, Elevated circulating creatine kinase concentration, Microcephaly, O...	ORPHA:544469
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Lateral ventricle dilatation, Microphthalmia, Failure to thrive, Agenesis of corpus...	OMIM:300952
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Abnormal cerebrospinal fluid morphology, Microcephaly, Mi...	ORPHA:448237
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Hydrocepha...	ORPHA:2318
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni...	OMIM:614298
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Poor head control, Facial palsy, Head titubation, Opti...	OMIM:608804
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Congenital diaphragmatic hernia	OMIM:166300
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia, Ventriculomegaly, Intention tremor	ORPHA:221139
Scheie Syndrome	Corneal opacity, Retinal degeneration	OMIM:607016
Peho Syndrome	Cerebellar atrophy, Microcephaly, Hydrocephalus, Flexion contracture, Optic atrophy, Atrophy/Dege...	ORPHA:2836
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy	ORPHA:367
Tay-Sachs Disease	Cerebellar atrophy, Skeletal muscle atrophy, Exaggerated startle response, Hip flexor weakness, D...	ORPHA:845
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop...	ORPHA:98908
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Microcephaly, Hydrocephalus, Optic atrophy, Hyperhomocystinemia, Cystathionine...	ORPHA:395
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Elevated circulating creat...	OMIM:617193
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Wide anterior fontanel, Patent ductus arteriosus, ...	OMIM:214100
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities	ORPHA:71
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Optic atrophy, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Failure ...	ORPHA:60040
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy, Distal amyot...	OMIM:609541
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Cataract, Retinal dystrophy, Corpus callosum atrophy, Optic atrophy, Elevated...	OMIM:614877
Pontocerebellar Hypoplasia, Type 2A	Dystonia, Microcephaly, Hypoplasia of the pons, Optic atrophy, Opisthotonus, Congenital contractu...	OMIM:277470
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang...	ORPHA:59315
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Combined Oxidative Phosphorylation Deficiency 12	Poor head control, Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callos...	OMIM:614924
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities	OMIM:620326
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
3-Methylglutaconic Aciduria, Type Ix	Optic atrophy, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Failure to thrive, Muscl...	OMIM:617698
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:620156
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Failure to thrive, Polyhydramnios, Edema, Hydrops fetalis, Arthrogryposi...	OMIM:232500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Patent ductus arteriosus, Chiari type I malformation, Failure to thrive, ...	OMIM:617506
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology	ORPHA:2720
Alg8-Cdg	Hyponatremia, Cataract, Small for gestational age, Optic atrophy, Macroglossia, Hypoplasia of the...	ORPHA:79325
Non-Specific Early-Onset Epileptic Encephalopathy	Poor head control, Microcephaly, Tremor, Optic atrophy, Cerebral atrophy, Failure to thrive, Reti...	ORPHA:442835
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Ophthal...	ORPHA:1349
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Hydrocephalus, Flexion contracture, ...	OMIM:616222
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology	OMIM:617757
Keratoendotheliitis Fugax Hereditaria	Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma	OMIM:148200
Cog8-Cdg	Cerebellar atrophy, Skeletal muscle atrophy, Poor head control, Atrophy/Degeneration affecting th...	ORPHA:95428
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Ele...	OMIM:608836
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter	OMIM:615595
Osteopetrosis, Autosomal Recessive 1	Facial palsy, Hydrocephalus, Optic atrophy, Ophthalmoparesis, Hypocalcemia, Facial paralysis, Fai...	OMIM:259700
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, External ophthalmoplegia, Atrophy/Degeneration affecting the brainstem, Optic...	OMIM:612319
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Microcephaly, Ragged-red muscle fibers, Pigmentary retinopa...	OMIM:530000
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o...	OMIM:618273
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Subcortical band heterotopia, Optic atrophy, Subependymal cysts, Hypoplasia of the corpus callosu...	OMIM:618737
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Catarac...	ORPHA:99956
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Hypotonia-Cystinuria Syndrome	Facial palsy, Ragged-red muscle fibers, Hypocalcemia, Failure to thrive, Muscle weakness	OMIM:606407
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypopla...	ORPHA:500144
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Ventricul...	OMIM:612936
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Microcephaly, Wide anterior fontanel, Flexion contracture, Optic atrophy, Cereb...	OMIM:609180
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Optic atrophy, Athetosis, Secondary microcephaly, Ventriculomegaly	OMIM:618241
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Dystonia	ORPHA:263410
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Autosomal Recessive Primary Microcephaly	Microcephaly, Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Agenesis of c...	ORPHA:2512
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Distal muscle weakness, Proximal mu...	OMIM:601152
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Optic disc pallor, Multiple joint contractures, Retrocerebellar cyst, Diffuse cerebellar atrophy,...	ORPHA:363429
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myopathy, Rhabdomyolysis	ORPHA:228305
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Poor head control, Facial palsy, Mydriasis, Microcephaly, Hydrocephalus, Optic...	OMIM:259720
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Erythrokeratodermia Variabilis	Cataract, Microcephaly, Corneal opacity, Weight loss	ORPHA:317
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Optic atrophy, Craniofacial dystonia, Hyperammonemia, Increased CSF la...	OMIM:618253
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hypopl...	OMIM:616546
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Microcephaly, Flexion contracture, Optic atrophy, Cerebral atrophy, Opisthoto...	OMIM:615851
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Limb-girdle muscle ...	OMIM:251900
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, ...	OMIM:164180
Lowry-Maclean Syndrome	Corneal opacity, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Developmental glau...	ORPHA:2409
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Chiari type I malfor...	OMIM:618476
Holoprosencephaly	Hyponatremia, Encephalocele, Anophthalmia, Failure to thrive in infancy, Congenital diaphragmatic...	ORPHA:2162
Crouzon Syndrome	Hydrocephalus, Chiari malformation, Cerebellar hypoplasia	ORPHA:207
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Flexion contracture, Lower limb hypertonia, Astigmatism, Upper limb hypertonia	OMIM:619328
Jaberi-Elahi Syndrome	Dandy-Walker malformation, Cataract, Distal muscle weakness, Microcephaly, Tremor, Optic atrophy,...	OMIM:617988
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased CSF biopterin level, Axonal loss, Decreased CSF protein concentration, Hypotriglyceride...	ORPHA:404454
Gabriele-De Vries Syndrome	Facial hypotonia, Tremor, Lateral ventricle dilatation, Distal arthrogryposis, Dystonia	OMIM:617557
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Microcephaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, ...	ORPHA:2772
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Hydrocephalus, Pigmentary retinopathy, Axenfeld anomaly, Opacification ...	OMIM:612582
Edinburgh Malformation Syndrome	Brushfield spots, Hydrocephalus, Abnormality of neuronal migration, Failure to thrive, Aplasia/Hy...	ORPHA:1895
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:609757
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Elevated circulating creatine kinase concentration, Microcephaly, Generalized ...	ORPHA:314389
Hydranencephaly	Optic nerve hypoplasia, Chorioretinal atrophy, Opisthotonus, Primary microcephaly, Cerebral corti...	ORPHA:2177
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Joubert Syndrome 22	Molar tooth sign on MRI, Agenesis of cerebellar vermis	OMIM:615665
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic corpus callosum, Patent ductus a...	ORPHA:500150
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi...	ORPHA:263297
Cln3 Disease	Cerebellar atrophy, Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Gene...	ORPHA:228346
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia, Camptodactyly	ORPHA:444051
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Spastic Ataxia 4, Autosomal Recessive	Lower limb hypertonia, Optic atrophy, Upper limb hypertonia	OMIM:613672
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Hydrocephalus, Cerebral atrophy, Death in childhood, Failure to th...	OMIM:269920
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Chiari malformation	ORPHA:171839
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of th...	ORPHA:255138
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Death in infancy, Elevated circulating hexacosanoic acid concentration, Microc...	OMIM:614388
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Triple A Syndrome	Microcephaly, Optic atrophy, Abnormality of the calf musculature, Abnormality of the hypothenar e...	ORPHA:869
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Sanjad-Sakati Syndrome	Corneal opacity, Microcephaly, Myopathy, Hyperphosphatemia, Astigmatism, Hypocalcemia, Aplasia/Hy...	ORPHA:2323
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Failure to thrive, Optic atrophy, Facial palsy	OMIM:615085
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalmia, Retinal dystrophy, Chor...	ORPHA:2556
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Cataract, Microcephaly, Ophthalmoplegia, Optic atrophy, Hyperammonemia, Dysto...	ORPHA:254913
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Keppen-Lubinsky Syndrome	Microcephaly, Abnormally large globe, Flexion contracture, Opisthotonus, Lateral ventricle dilata...	OMIM:614098
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Cataract, Camptodactyly of finger, Microcephaly, Wide anterior fontanel, Paten...	OMIM:607872
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Cataract, Brushfield spots, Optic nerve dysplasia, Death in childhood, Pigment...	OMIM:214110
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Poor head control, Elevated circulating creatine kinas...	ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Microcephaly, Hyperprolinemia, Hyperalaninemia, Limb hypertonia	OMIM:619170
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:615630
Wildervanck Syndrome	Lens subluxation, Meningocele, Pseudopapilledema, Facial palsy	ORPHA:3456
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Hemidystonia, Optic atrophy, Cerebral atrophy, Musc...	ORPHA:508093
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl...	ORPHA:1908
Nephronophthisis 18	Hydrocephalus	OMIM:615862
3C Syndrome	Death in infancy, Ventriculomegaly, Hydrocephalus, Optic atrophy, Abnormality of neuronal migrati...	ORPHA:7
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Farber Disease	Skeletal muscle atrophy, Corneal opacity, Flexion contracture, Macular degeneration, Abnormal con...	ORPHA:333
Alpha-Mannosidosis	Macroglossia, Cataract, Corneal opacity	ORPHA:61
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Microcephaly, Optic atrophy, Abnormality of neuronal migrati...	ORPHA:2518
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Poor head control, Microcephaly, Optic atrophy, Hyperammonemia, Increas...	ORPHA:391428
Carcinoid Syndrome	Myopathy	ORPHA:100093
Emanuel Syndrome	Torticollis, Ventriculomegaly, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arter...	OMIM:609029
Methylcobalamin Deficiency Type Cble	Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Mucopolysaccharidosis Type 1	Corneal opacity, Hydrocephalus, Optic atrophy, Abnormal tendon morphology, Retinopathy	ORPHA:579
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tibialis muscle weakness, ...	ORPHA:320375
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of...	OMIM:614195
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Death in infancy, Dystonia, Elevated circulating creatine kinase concentration, Opt...	OMIM:610505
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Failure to thrive, Microcephaly, Flexion contracture, Optic atrophy, Cerebral...	OMIM:601110
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Microcephaly, Corne...	OMIM:618460
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R...	OMIM:221900
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Pseudo-Torch Syndrome 1	Cataract, Microcephaly, Pachygyria, Patent ductus arteriosus, Lissencephaly, Cerebellar hypoplasi...	OMIM:251290
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Optic disc pallor, Flexion contracture, Cerebellar vermis atrophy	OMIM:616204
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Mcleod Syndrome	Myopathy, Rhabdomyolysis	OMIM:300842
Mitochondrial Dna-Associated Leigh Syndrome	Failure to thrive, Segmental peripheral demyelination/remyelination, Ragged-red muscle fibers, Op...	ORPHA:255210
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Baller-Gerold Syndrome	Optic nerve hypoplasia, Wide anterior fontanel, Hydrocephalus, Optic atrophy, Chiari malformation...	OMIM:218600
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Rhabd...	ORPHA:79102
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Microcephaly, Optic atrophy, Hyperammonemia, Dystonia, Aplasia/Hypoplasia inv...	OMIM:614739
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Hurler Syndrome	Corneal opacity, Hydrocephalus, Flexion contracture, Macroglossia, Opacification of the corneal s...	OMIM:607014
3-Hydroxyisobutyric Aciduria	Failure to thrive, Abnormality of neuronal migration, Microcephaly	OMIM:236795
Temple Syndrome	Hydrocephalus	ORPHA:254516
B4Galt1-Cdg	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Lateral ventricle dilatation	OMIM:618367
Schindler Disease, Type I	Optic atrophy, Generalized amyotrophy	OMIM:609241
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Rhabdomyolysis	OMIM:609015
Morquio Syndrome C	Corneal opacity	OMIM:252300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Poor head control, Elevated circulating creatine kinase concentration, Optic atrophy, Contracture...	ORPHA:329178
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities	ORPHA:684
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked poten...	OMIM:619260
Fryns Syndrome	Ventriculomegaly, Aganglionic megacolon, Corneal opacity, Congenital diaphragmatic hernia, Microp...	ORPHA:2059
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, Extra-axial...	OMIM:614261
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Postural tremor, Head titubation, Flexion contracture, Optic atrophy, Opto-ch...	OMIM:615491
Glutathionuria	Tremor, Gray matter heterotopia, Agenesis of corpus callosum, Action tremor	OMIM:231950
3-Methylglutaconic Aciduria, Type V	Diaphragmatic eventration, Failure to thrive, Optic atrophy, Muscle weakness	OMIM:610198
Plasminogen Deficiency, Type I	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly	OMIM:217090
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Cataract, Small for gestational age, Microcephaly, H...	OMIM:615471
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Poor head contr...	OMIM:252010
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Muscle fiber splitting	OMIM:606408
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Retinal dystrophy	OMIM:263520
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Microcephaly, Optic atrophy, Cerebral atrophy, Athetosis, Hypoplasia of the c...	OMIM:617951
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microcornea, Reti...	ORPHA:2839
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformatio...	OMIM:617281
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Encephalocele, Agenesis of corpus callosum, Abnormal midbrain m...	ORPHA:314621
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass	ORPHA:261476
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Bulbar palsy, Abnormal cortical gyration, Microcephaly, Optic atrop...	ORPHA:521426
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia	OMIM:618161
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Microcephaly, Flexion contracture, Optic atrophy, Secondary microcephaly, Abn...	OMIM:616683
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Congenital diaphragmatic hernia, Microcephaly, Pat...	ORPHA:96170
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Micro Syndrome	Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Cataract, Microcephaly, Abnorm...	ORPHA:2510
Acyl-Coa Dehydrogenase 9 Deficiency	Myopathy, EMG: myopathic abnormalities	ORPHA:99901
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy...	ORPHA:99845
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Multiple joint contractures, Microcephaly, Optic atrophy, Abnormal autonomic ...	ORPHA:466934
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Respiratory insufficiency due to muscle weakness, Generalized muscle weakness, Optic atrophy, Ske...	ORPHA:436271
Neutral Lipid Storage Disease With Ichthyosis	Myopathy, EMG: myopathic abnormalities, Shoulder girdle muscle weakness, Increased intramyocellul...	ORPHA:98907
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Increased CSF protein concentration, Optic neuropathy, Microcephaly, Axonal d...	OMIM:616811
Warburg Micro Syndrome 2	Cataract, Microcephaly, Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, ...	OMIM:614225
Hurler Syndrome	Death in infancy, Corneal opacity, Camptodactyly of finger, Hydrocephalus, Macroglossia, Abnormal...	ORPHA:93473
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Poor head control, Optic neuropathy, Microcephaly, F...	ORPHA:2609
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Congenital Disorder Of Glycosylation, Type Iim	Poor head control, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypop...	OMIM:300896
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Cataract, Facial palsy, Elevate...	ORPHA:254892
Polymyositis	Weight loss, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Abnorm...	ORPHA:732
Vici Syndrome	Cerebellar vermis hypoplasia, Cataract, Macular atrophy, Elevated circulating creatine kinase con...	OMIM:242840
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Facial hypotonia, Bull's eye ma...	OMIM:216550
Helsmoortel-Van Der Aa Syndrome	Poor head control, Facial palsy, Obesity, Truncal obesity, Lateral ventricle dilatation, Astigmat...	OMIM:615873
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Cataract, Optic atrophy, Microphthalmia, Failure to thrive, Polymic...	OMIM:612379
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Myopathy	OMIM:617713
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Multiple joint contractures, Distal muscle weakness, Vestibular areflexia, Optic atrophy, Intenti...	ORPHA:504476
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture, Small for gestational age, Microcephaly	OMIM:613330
Melas	Increased CSF protein concentration, Progressive external ophthalmoplegia, Peripheral axonal neur...	ORPHA:550
Presynaptic Congenital Myasthenic Syndromes	Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i...	ORPHA:98914
Congenital Myasthenic Syndrome	Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i...	ORPHA:590
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Corneal opacity, Micro...	ORPHA:464306
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Arachnoiditis	Hydrocephalus	ORPHA:137817
Mucopolysaccharidosis Type 3	Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Flexion contracture, Optic atrophy, M...	ORPHA:581
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul...	ORPHA:228308
Dilated Cardiomyopathy With Ataxia	Elevated circulating glutaric acid concentration, Dystonia, Optic atrophy, Generalized amyotrophy...	ORPHA:66634
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Triosephosphate Isomerase Deficiency	Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Tremor, Progressive muscle weakness...	OMIM:615512
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Bulbar palsy, Abnormal cortical gyration, Cessation of head growth,...	OMIM:617527
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Optic disc pallor, Communicating hydrocephalus, Cataract, Facial hypotonia, C...	ORPHA:309282
Bohring-Opitz Syndrome	Delayed peripheral myelination, Microcephaly, Flexion contracture, Gray matter heterotopia, Hypop...	OMIM:605039
Desmosterolosis	Abnormal cortical gyration, Microcephaly, Pachygyria, Patent ductus arteriosus, Hydrocephalus, Ab...	ORPHA:35107
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Cataract, Optic atroph...	OMIM:620089
Trisomy 1Q	Anophthalmia, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Patent duc...	ORPHA:261344
Craniosynostosis 4	Chiari type I malformation, Optic nerve hypoplasia	OMIM:600775
De Barsy Syndrome	Decreased muscle mass, Cerebellar vermis hypoplasia, Corneal opacity, Cataract, Patent ductus art...	ORPHA:2962
Focal Dermal Hypoplasia	Corneal opacity, Camptodactyly of finger, Congenital diaphragmatic hernia, Diastasis recti, Spina...	ORPHA:2092
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Increased CSF protein concentrat...	ORPHA:206448
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Chiari malformation	ORPHA:93259
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op...	ORPHA:352731
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Optic atrophy, Blepharospasm, Pigmentary retinopathy, ...	OMIM:617282
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Cerebellar vermis hypoplasia, Microcephaly, Corpus callosum atrophy, Optic atrophy, Cerebral atro...	OMIM:619876
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Limb joint contracture, Microcephaly, Abnormally large globe, Optic atrophy, Agenesis of corpus c...	OMIM:300004
Pantothenate Kinase-Associated Neurodegeneration	Toe extensor amyotrophy, Pallidal degeneration, Dystonia, Abetalipoproteinemia, Bull's eye maculo...	ORPHA:157850
Prader-Willi Syndrome Due To Translocation	Microcephaly, Patent ductus arteriosus, Obesity, Lateral ventricle dilatation, Stellate iris, Cer...	ORPHA:177907
Histiocytoid Cardiomyopathy	Corneal opacity, Hydrocephalus, Optic atrophy, Cerebellar malformation, Microphthalmia, Megalocor...	ORPHA:137675
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Astigmatism, Second...	OMIM:616875
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrocephalus, Chorioretinal coloboma, Microphthalmia, Agenesis ...	ORPHA:268249
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 2 muscle fiber predominance, Congenital contracture, Type 1 muscle fiber atrophy, Type 2 mus...	OMIM:619036
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Poor head control, Cach...	ORPHA:206436
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Peripheral axonal neuropathy, Decreased muscle mass, Generalized muscle weakn...	ORPHA:1900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Microcephaly, Optic atrophy, Astigmatism, Camptodactyly, Pachygyria, Cerebral...	OMIM:619576
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Bartsocas-Papas Syndrome 2	Corneal opacity, Wide anterior fontanel, Antecubital pterygium, Popliteal pterygium, Microphthalm...	OMIM:619339
Combined Oxidative Phosphorylation Deficiency 11	Myopathy	OMIM:614922
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Facial paralysis, Optic atrophy, Hydrocephalus	OMIM:259710
Jacobsen Syndrome	Microcephaly, Hydrocephalus, Flexion contracture, Optic atrophy, Microcornea, Macular hypoplasia,...	OMIM:147791
Scleromyxedema	Myopathy, Abnormal skeletal muscle morphology	ORPHA:167635
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Tremor, Hydrocephalus, Optic disc coloboma...	ORPHA:1454
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyponatremia, Abnormal substa...	ORPHA:79139
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti...	OMIM:267750
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Snakebite Envenomation	Rhabdomyolysis, Muscle fiber necrosis	ORPHA:449285
Fanconi Anemia, Complementation Group R	Chiari type I malformation, Hydrocephalus	OMIM:617244
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corn...	ORPHA:580
Stormorken Syndrome	Myopathy	OMIM:185070
Diaphragmatic Hernia 4, With Cardiovascular Defects	Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Optic nerve hypoplasia	OMIM:620025
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia	OMIM:619562
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory insufficiency due to muscle weakness, Optic atrophy, Increased CSF lactate, Ophthalmo...	OMIM:220110
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity, Camptodactyly of finger	ORPHA:2741
Premature Aging Syndrome, Penttinen Type	Flexion contracture of finger, Corneal opacity, Hypermyelinated retinal nerve fibers, Retrocerebe...	OMIM:601812
Diabetic Embryopathy	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Corneal opacity, Diastasis recti, Microcephaly, Progressive muscle weakn...	ORPHA:488632
Cutis Laxa, Autosomal Recessive, Type Iib	Decreased muscle mass, Microcephaly, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Elevated circulating creatine kinase conce...	ORPHA:496641
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Seco...	OMIM:616881
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Myotonic Dystrophy 2	Neck flexor weakness, Elevated circulating creatine kinase concentration, Proximal muscle weaknes...	OMIM:602668
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Retinal dystrophy, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of...	OMIM:619512
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Camptodactyly of finger, Corneal...	ORPHA:464
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Small for gestational age, Dystonia, Microc...	OMIM:620024
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Triploidy	Cataract, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Macroglossia, Ho...	ORPHA:3376
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Distal muscle weakness, Facial palsy, Abnormal c...	ORPHA:2356
8Q24.3 Microdeletion Syndrome	Small for gestational age, Optic nerve hypoplasia, Patent ductus arteriosus, Bilateral microphtha...	ORPHA:508488
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Wide anterior fontanel, Death in infancy, Increased CSF lactate	OMIM:618240
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h...	OMIM:619306
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Poor head control, Optic neuropathy, Optic atrophy, Choreo...	OMIM:618249
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Aplasia/Hypoplasia of the cerebe...	ORPHA:649
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Elevated circulating deoxyuridine concentration, Progressive external o...	OMIM:603041
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:613001
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar ...	OMIM:300049
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Generalized dystonia, Corpus callosum atrophy, Ophthalmoplegia, Optic atrophy...	ORPHA:171629
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Tremor, Hydrocephalus, Abnorm...	ORPHA:475
Juvenile Sialidosis Type 2	Cherry red spot of the macula, Cataract, Optic atrophy, Corneal opacity	ORPHA:93399
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Abnormal pupil morphology, Flexion contracture, Chiari type I malfo...	ORPHA:261552
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria, Ventriculomegaly	OMIM:614483
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c...	OMIM:216360
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hydrocephalus, Flexion contracture, Macroglossia	OMIM:309900
Monosomy 9Q22.3	Cataract, Rhabdomyosarcoma, Large for gestational age, Hydrocephalus, Chiari malformation, Microp...	ORPHA:77301
Congenital Disorder Of Deglycosylation 1	Facial hypotonia, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Microcep...	OMIM:615273
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Microcephaly, Optic atrophy, Death in childhood, Failure to thrive	OMIM:615597
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Cataract, Tendon xanthomatosis, Cerebral atrophy, Abnormal...	OMIM:213700
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor, Cerebral atrophy, Hypoplasia of the corpus callosum, Dystonia, Joint contracture	OMIM:617762
Desmosterolosis	Failure to thrive, Ventriculomegaly, Microcephaly, Patent ductus arteriosus, Partial agenesis of ...	OMIM:602398
Lethal Congenital Contracture Syndrome 10	Macroglossia, Increased variability in muscle fiber diameter, Torticollis	OMIM:617022
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Skeletal muscle atrophy, Microcephaly, Patent ductus arteriosus, Ragged-r...	ORPHA:17
Fumarase Deficiency	Microcephaly, Conjunctival icterus, Optic atrophy, Choroid plexus cyst, Cerebral atrophy, Hypopla...	OMIM:606812
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Corneal opacity, Death in childhood	OMIM:618961
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Microcephaly, Flexion contracture, Elbow flexion c...	OMIM:617301
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Lhermitte-Duclos Disease	Hydrocephalus, Enlarged cerebellum	ORPHA:65285
Epidermolysis Bullosa Simplex With Pyloric Atresia	Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration	ORPHA:158684
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Myopathy, Muscular dystrophy	OMIM:307030
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Microcephaly, Ocular albinism, Athetosis, Choroideremia, Aplasia/Hypop...	ORPHA:2719
Cockayne Syndrome B	Abnormal peripheral myelination, Tremor, Hypoplasia of the iris, Microcornea, Death in childhood,...	OMIM:133540
Hypomelanosis Of Ito	Cataract, Microcephaly, Cerebral atrophy, Gray matter heterotopia, Iris coloboma	OMIM:300337
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Microcephaly, Elevated ...	OMIM:616878
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Retinal atrophy, Cataract, Abnormal peripheral myelination, ...	OMIM:216400
Trisomy 17P	Skeletal muscle atrophy, Cataract, Microcephaly, Patent ductus arteriosus, Flexion contracture, H...	ORPHA:261290
Gaucher Disease	Death in infancy, Ventriculomegaly, Corneal opacity, Elevated circulating C-reactive protein conc...	ORPHA:355
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Flexion contracture, Chiari type I malformation, Agenesis of corpus...	ORPHA:261537
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Cataract, Hydrocephalus, Abnormal pupil morpholo...	ORPHA:2969
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Gray matter heterotopia, Retinopathy, Ventriculomegaly	OMIM:617563
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele	OMIM:612291
Peroxisome Biogenesis Disorder 12A (Zellweger)	Microcephaly, Wide anterior fontanel, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, ...	OMIM:614886
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Dural Sinus Malformation	Papilledema, Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Chemosis, Hypoplasia of t...	ORPHA:97339
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Pigmentary retinopathy, Hypoplasia of the corpus callosum, Camptodactyly,...	OMIM:614230
Overlap Myositis	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Prox...	ORPHA:206572
Joubert Syndrome 37	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:619185
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Cerebellar atrophy, Cataract, Rod-cone dystrophy, Ragged-red muscle fibers, Rha...	OMIM:124000
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity, Camptodactyly of finger	ORPHA:1794
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hydrocephalus, Secondary microcephaly, Lissencephaly, Death in childhoo...	OMIM:612938
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Cataract, Microcephaly, Decreased nerve conduction velocity, Optic atrophy, P...	OMIM:610651
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Retinal neovascula...	ORPHA:247691
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:264480
Fanconi Anemia, Complementation Group B	Death in infancy, Optic disc hypoplasia, Patent ductus arteriosus, Hydrocephalus, Cerebellar hypo...	OMIM:300514
Wilson Disease	Increased body weight, Weight loss, Proximal muscle weakness in lower limbs, Kayser-Fleischer rin...	ORPHA:905
Xfe Progeroid Syndrome	Cachexia, Microcephaly, Optic atrophy, Corneal scarring, Death in adolescence, Hypoalbuminemia, F...	OMIM:610965
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th...	OMIM:620305
Mosaic Trisomy 9	Ventriculomegaly, Corneal opacity, Camptodactyly of finger, Spina bifida, Microcephaly, Patent du...	ORPHA:99776
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Optic atrophy, Hand tremor, Muscle weakness, Dystonia, Moto...	ORPHA:289560
Fucosidosis	Decreased muscle mass, Failure to thrive, Corneal opacity	ORPHA:349
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricular he...	OMIM:618974
Pituitary Stalk Interruption Syndrome	Death in infancy, Septo-optic dysplasia, Failure to thrive	ORPHA:95496
Malignant Hyperthermia Of Anesthesia	Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab...	ORPHA:423
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Tetrasomy 5P	Wide anterior fontanel, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Cere...	ORPHA:3309
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy	ORPHA:300751
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Camptodactyly of...	ORPHA:217085
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I...	OMIM:169550
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Rod-c...	ORPHA:216866
White-Sutton Syndrome	Cerebellar atrophy, Facial hypotonia, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia o...	ORPHA:468678
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal cerebrospinal fluid...	ORPHA:68
Distal Deletion 13Q	Encephalocele, Microcephaly, Anencephaly, Optic atrophy, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:1590
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Aplasia/Hypoplasia of the corpu...	ORPHA:284160
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia	OMIM:618590
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Poor head control, Microcephaly, Pachygyria, Patent ductus arterio...	OMIM:613457
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp...	ORPHA:444072
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, ...	OMIM:618325
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Microcephaly, Tremor, Hydrocephalus, Hyperhomocystinem...	OMIM:277400
Gracile Bone Dysplasia	Death in infancy, Hydrocephalus, Hypocalcemia, Aniridia, Microphthalmia, Failure to thrive	OMIM:602361
Moebius Syndrome	Skeletal muscle atrophy, Death in infancy, Corneal opacity, Facial palsy, Ophthalmoplegia, Aplasi...	ORPHA:570
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy...	ORPHA:280365
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosio...	ORPHA:1764
Friedreich Ataxia	Decreased motor nerve conduction velocity, Hand muscle atrophy, Optic atrophy, Muscle weakness, D...	ORPHA:95
Mevalonic Aciduria	Cerebellar atrophy, Optic disc pallor, Agenesis of cerebellar vermis, Failure to thrive in infanc...	OMIM:610377
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Left ventricular noncompaction, Neonatal death, Secondary microcephaly, Dyston...	OMIM:619167
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Usher Syndrome	Myopathy	ORPHA:886
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Wide anterior fontanel, Elevated 8-dehydrocholeste...	ORPHA:401973
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Re...	ORPHA:191
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypoplasia of the...	ORPHA:3163
Mucopolysaccharidosis, Type Vii	Corneal opacity, Diastasis recti, Hydrocephalus, Flexion contracture, Macroglossia	OMIM:253220
Acquired Generalized Lipodystrophy	Myopathy, Calf muscle pseudohypertrophy	ORPHA:79086
Mitochondrial Trifunctional Protein Deficiency	Left ventricular hypertrophy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness	ORPHA:746
Mpdu1-Cdg	Wide anterior fontanel, Optic atrophy, Elevated circulating creatine kinase concentration, Ventri...	ORPHA:79323
Alexander Disease	Facial palsy, Aqueductal stenosis, Tremor, Hydrocephalus, Abnormal autonomic nervous system physi...	ORPHA:58
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Hyperostosis Cranialis Interna	Chiari type I malformation, Optic atrophy, Facial palsy	OMIM:144755
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Corneal opacity, Hypoalbuminemia, Failure to thrive, Ventriculomegaly	ORPHA:79396
Cryptococcosis	Abnormal retinal morphology, Hydrocephalus, Ophthalmoplegia, Vitritis, Abnormal optic nerve morph...	ORPHA:1546
Cardiomyopathy, Familial Hypertrophic, 4	Myopathy	OMIM:115197
Pfeiffer Syndrome	Hydrocephalus, Chiari malformation	OMIM:101600
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Cataract, Small for gestational age, Hypodysplasia of the corpus callosum, Micr...	OMIM:257300
Carpenter Syndrome 1	Patent ductus arteriosus, Optic atrophy, Obesity, Spina bifida occulta, Aplasia/Hypoplasia of the...	OMIM:201000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Microcephaly, Hydrocephalus, Optic a...	ORPHA:79282
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Syndromic Recessive X-Linked Ichthyosis	Lissencephaly, Corneal opacity	ORPHA:281090
Autosomal Dominant Spastic Paraplegia Type 36	Abnormal brainstem MRI signal intensity, Distal muscle weakness, Proximal muscle weakness	ORPHA:320365
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Aplasia of the ...	OMIM:619841
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Obesity, Simplified gyr...	ORPHA:96121
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Tick-Borne Encephalitis	Skeletal muscle atrophy, Abnormal medulla oblongata morphology, Facial palsy, Elevated circulatin...	ORPHA:297
Spondylocostal Dysostosis 4, Autosomal Recessive	Chiari type II malformation, Spina bifida occulta, Myelomeningocele, Hydrocephalus	OMIM:613686
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Patent ductus arteriosus, Flexion contracture, Optic atrophy...	ORPHA:505248
Galloway-Mowat Syndrome	Camptodactyly of finger, Microcephaly, Aqueductal stenosis, Abnormality of neuronal migration, Pa...	ORPHA:2065
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Microcephaly, Elevated ...	ORPHA:480864
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Myopathy	OMIM:618975
Axial Mesodermal Dysplasia Spectrum	Limbal dermoid, Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia	ORPHA:1834
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Apert Syndrome	Hydrocephalus, Corneal erosion, Optic atrophy, Chiari malformation, Agenesis of corpus callosum, ...	ORPHA:87
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Cataract, Abnormal cerebrospinal fluid morphology, Optic atro...	ORPHA:314404
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Astigmatism, Diffuse cerebellar atrophy...	ORPHA:480898
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi...	ORPHA:268810
Combined Pituitary Hormone Deficiencies, Genetic Forms	Holoprosencephaly, Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:95494
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Congenital diaphragmatic hernia, Microcephaly, Men...	ORPHA:991
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Abnorma...	ORPHA:268882
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Dyggve-Melchior-Clausen Disease	Corneal opacity, Microcephaly, Respiratory insufficiency due to muscle weakness, Limb muscle weak...	ORPHA:239
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Microcephaly, Overweight, Hydrocephalus, Flexion contracture, Hypoplasia of th...	ORPHA:500055
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Molar tooth sign on MRI, Occipital meningoc...	OMIM:277170
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Tremor, Retinal hemorrhage, Athetos...	ORPHA:25
Meckel Syndrome	Encephalocele, Anophthalmia, Abnormal chorioretinal morphology, Cataract, Sclerocornea, Microceph...	ORPHA:564
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Optic atrophy, Titubation	ORPHA:98768
Whipple Disease	Hyponatremia, Myositis, Cachexia, Hydrocephalus, Muscle weakness	ORPHA:3452
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Microcephaly, Abnormality of neuronal migration, Holoprosencephaly, Agen...	ORPHA:261236
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Developmental glaucoma, Aniridia, Corneal opacity	ORPHA:1064
Congenital Fiber-Type Disproportion Myopathy	Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak...	ORPHA:2020
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Cataract, Ectopia lentis, Patent ductus arteriosus, ...	ORPHA:1571
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Decreased nerve conduc...	OMIM:277900
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Microcephaly, Sclerocornea, Optic atrophy, Agenesis of corpus ca...	ORPHA:280
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Hypoplasia of the pons, Head titubation, Optic atrophy, Knee flexion contract...	OMIM:619708
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose...	OMIM:610828
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Corneal opacity, Hyperlipidemia, Failure to thrive, Muscle weakness	ORPHA:1830
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Optic disc hypoplasia, Camptodactyly of finger, Slender build, Action tremo...	ORPHA:3455
Cerebrotendinous Xanthomatosis	Axonal degeneration, Juvenile cataract, Abnormal cerebellar peduncle morphology, Distal amyotroph...	ORPHA:909
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Microcephaly, Hydrocephalus, Flexion contracture, Developmental catar...	ORPHA:1865
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Poor head control, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbumi...	OMIM:618329
Musculocontractural Ehlers-Danlos Syndrome	Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy	ORPHA:2953
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Reduced s...	OMIM:615434
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypocalcemia, Dystonia	OMIM:620330
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture	ORPHA:371364
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Corneal opacity	ORPHA:93476
Distal Triplication 15Q	Corneal dystrophy, Large for gestational age, Patent ductus arteriosus, Flexion contracture, Hydr...	ORPHA:314588
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Crouzon Syndrome	Keratitis, Conjunctivitis, Hydrocephalus, Optic atrophy	OMIM:123500
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Microcephaly, Obesity, Aniridia, Camptodactyly of toe, Microphthalmia, Ir...	ORPHA:251038
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th...	ORPHA:2437
Alg11-Cdg	Microcephaly, Cerebral atrophy, Opisthotonus, Gray matter heterotopia, Failure to thrive, Limb hy...	ORPHA:280071
Tenorio Syndrome	Hydrocephalus, Macroglossia, Keratoconjunctivitis sicca, Cerebral cortical atrophy, Ventriculomegaly	OMIM:616260
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callos...	OMIM:612651
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Microcornea, Keratoconjunct...	OMIM:234050
Achondroplasia	Brain stem compression, Hydrocephalus	OMIM:100800
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Cerebral atrophy, Subcortical cerebral atrophy, Retinopathy, Iris coloboma, Agen...	ORPHA:2396
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Hurler-Scheie Syndrome	Contracture of the distal interphalangeal joint of the fingers, Corneal opacity, Camptodactyly of...	OMIM:607015
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma, ...	OMIM:252600
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Camptodactyly of...	ORPHA:217093
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy	OMIM:611490
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Partial agenesis of the co...	ORPHA:50
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Anophthalmia, Foot joint contracture, Cataract, Tremor, Opti...	ORPHA:90321
Ethylmalonic Encephalopathy	Retinal vascular tortuosity, Abnormal brainstem MRI signal intensity, Failure to thrive	ORPHA:51188
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Retinal dy...	OMIM:243910
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Ritscher-Schinzel Syndrome 3	Death in infancy, Cerebellar vermis hypoplasia, Wide anterior fontanel, Chorioretinal coloboma, M...	OMIM:619135
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Tremor, Cerebral atrophy, Abnormal optic nerve morpholog...	ORPHA:83629
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Abnormal optic nerve...	ORPHA:3412
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Poor head control, Spina bifida, Microcephaly, Hydrocephalus, Elbow fle...	OMIM:613776
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Skeletal mus...	ORPHA:90324
Meningioma	Papilledema, Facial palsy, Abnormal cerebellum morphology, Hydrocephalus, Neurofibroma, Ophthalmo...	ORPHA:2495
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Patent ductus arteri...	OMIM:619534
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:2063
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy	ORPHA:85450
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Koolen-De Vries Syndrome	Cataract, Small for gestational age, Microcephaly, Patent ductus arteriosus, Hypotrophy of the sm...	OMIM:610443
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, ...	ORPHA:314679
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Monosomy 18Q	Abnormal retinal morphology, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Choreoathetos...	ORPHA:1600
Mosaic Trisomy 8	Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Camptodactyly of finger, Corneal...	ORPHA:96061
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities	ORPHA:2549
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Cerebellar vermis hypoplasia, Microcephaly, Colpocephaly, Dystonia, Failure to...	OMIM:620083
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus	OMIM:187600
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia...	OMIM:601853
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Microcephaly, Bilateral microphthalmos, Microphthalmia, Conjunctival h...	ORPHA:2399
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Optic ...	ORPHA:324
Barth Syndrome	Skeletal myopathy	OMIM:302060
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopathy	ORPHA:220295
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Lens luxation, Ectopia lentis, Hydrocephalus, Camptodactyly, Joint contracture of ...	OMIM:224400
1Q21.1 Microdeletion Syndrome	Cataract, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Microphthalmia, Failure to thriv...	ORPHA:250989
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Peroxisome Biogenesis Disorder 13A (Zellweger)	Posterior embryotoxon, Conjugated hyperbilirubinemia, Gray matter heterotopia, Increased circulat...	OMIM:614887
Chromosome Xp11.3 Deletion Syndrome	Cataract, Microcephaly, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Ro...	OMIM:300578
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:109
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Hydrocephalus, Optic atrophy, Blue irides, Hyperphosphatemia	OMIM:101800
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Flexion contracture, Perisylvia...	ORPHA:98889
Genitopalatocardiac Syndrome	Hydrocephalus, Congenital diaphragmatic hernia, Microcephaly	ORPHA:2075
Medulloblastoma	Hydrocephalus, Cerebellar calcifications, Cerebellar cyst	ORPHA:616
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Primary Ciliary Dyskinesia	Hydrocephalus, Rod-cone dystrophy, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Death in infancy, Cataract, Hypercholesterolemia, Hypoammonemia, Chorioretinal dysp...	ORPHA:534
Limb Body Wall Complex	Encephalocele, Corneal opacity, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, M...	ORPHA:2369
Radio-Tartaglia Syndrome	Microcephaly, Tremor, Obesity, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Smith-Lemli-Opitz Syndrome	Cataract, Aganglionic megacolon, Congenital diaphragmatic hernia, Microcephaly, Sclerocornea, Pat...	ORPHA:818
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Ventriculomegaly	OMIM:616202
Biotinidase Deficiency	Optic neuropathy, Myelopathy, Optic atrophy, Hyperammonemia, Conjunctivitis, Limb muscle weakness	ORPHA:79241
Fontaine Progeroid Syndrome	Death in infancy, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly, Perivent...	OMIM:612289
Pierson Syndrome	Retinal detachment, Skeletal muscle atrophy, Remnants of the hyaloid vascular system, Edema, Reti...	OMIM:609049
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Limb muscle weakness, Optic atrophy	OMIM:619259
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Camptodactyly of finger, Mic...	OMIM:249000
Aymé-Gripp Syndrome	Cataract, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Developmental...	ORPHA:1272
Kabuki Syndrome 1	Lateral ventricle dilatation, Hydrocephalus	OMIM:147920
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Bohring-Opitz Syndrome	Ventriculomegaly, Retinal atrophy, Facial hypotonia, Microcephaly, Optic atrophy, Bilateral wrist...	ORPHA:97297
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hyponatremia, Poor head control, Cataract, Microcephaly, Optic atrophy, Hypokalemia, ...	OMIM:617913
Tangier Disease	Peripheral axonal neuropathy, Hypertriglyceridemia, Corneal opacity, Distal muscle weakness, Faci...	ORPHA:31150
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Tremor, Abnormality of neuronal migration, Aplasia/Hypoplasia of th...	ORPHA:2754
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Retinitis, Microcephaly, Periventricular h...	OMIM:615948
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:264200
Acute Disseminated Encephalomyelitis	Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology, Diaphragmatic paralysis,...	ORPHA:83597
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Achondroplasia	Hydrocephalus	ORPHA:15
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Scapular winging, Ventriculomegaly, Periventricular heterotopia	OMIM:618870
Al-Gazali Syndrome	Failure to thrive, Wrist flexion contracture, Sclerocornea, Corneal opacity	OMIM:609465
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Microcephaly	ORPHA:1867
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ...	ORPHA:314585
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Man1B1-Cdg	Truncal obesity, Resting tremor, Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma	ORPHA:1643
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Multiple Endocrine Neoplasia, Type Iib	Myopathy	OMIM:162300
Gapo Syndrome	Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Wide anterior fontanel, Optic atrophy, ...	OMIM:230740
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcephaly, Abnormal optic disc morphology, Decreased corneal thickness, Congenital stationary ...	ORPHA:293967
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Opitz-Kaveggia Syndrome	Multiple joint contractures, Wide anterior fontanel, Partial agenesis of the corpus callosum, Hyd...	OMIM:305450
Adams-Oliver Syndrome	Encephalocele, Cataract, Hydrocephalus, Microphthalmia, Failure to thrive	ORPHA:974
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Microcephaly, Microcornea	ORPHA:2557
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Iniencephaly	Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, An...	ORPHA:63259
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Lateral Meningocele Syndrome	Chiari type I malformation, Hydrocephalus, Meningocele	OMIM:130720
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Corneal opacity, Cachexia, Hydrocephalus, Ophthalmoplegia, Hypoplasia of the corpus ...	ORPHA:2072
Mucopolysaccharidosis, Type Vi	Corneal opacity, Hydrocephalus, Flexion contracture, Macroglossia, Cervical myelopathy	OMIM:253200
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
De Sanctis-Cacchione Syndrome	Microcephaly, Keratitis, Axonal degeneration, Optic atrophy, Cerebral atrophy, Choreoathetosis, G...	OMIM:278800
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Miller-Dieker Lissencephaly Syndrome	Cataract, Microcephaly, Pachygyria, Joint contracture of the hand, Gray matter heterotopia, Lisse...	OMIM:247200
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Generalized muscle weakness, Increased CSF protein conce...	ORPHA:88619
Craniopharyngioma	Papilledema, Hydrocephalus, Optic atrophy, Obesity, Abnormal hypothalamus morphology	ORPHA:54595
Van Maldergem Syndrome 1	Wide anterior fontanel, Subcortical band heterotopia, Simplified gyral pattern, Gray matter heter...	OMIM:601390
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop...	ORPHA:800
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Agenesis of corpus callosum, Gray matter heterotopia, St...	OMIM:236680
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Muscl...	OMIM:618775
Cousin Syndrome	Hydrocephalus, Microcornea, Camptodactyly, Hydranencephaly, Microphthalmia, Joint contracture of ...	OMIM:260660
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Scapular winging, Ectopia lentis, Hydrocephalus, Keratoconjunctivi...	OMIM:616914
Microphthalmia With Limb Anomalies	Death in infancy, Hydrocephalus, Optic atrophy, Camptodactyly of 2nd-5th fingers, Microphthalmia,...	ORPHA:1106
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Abnormally large globe, Hydrocephalus, Athetosis, Cerebral cortical atrophy	OMIM:239300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Abnormally large globe, Hydrocephalus, Developmental glaucoma, E...	OMIM:245600
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Chiari type I malformation, Hy...	OMIM:270400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Chiari malformation	OMIM:618162
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity, Microcephaly	ORPHA:1234
Apert Syndrome	Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Ve...	OMIM:101200
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Hydrocephalus, Lisch nodules, Phe...	ORPHA:636
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Slender build, Small for gestational age, Spina bifida, Microcephaly, Hydroc...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Slender build, Small for gestational age, Spina bifida, Microcephaly, Hydroc...	ORPHA:363958
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Wide anterior fontanel, Hydrocephalus, Hypoplasia of the corpus callosum	OMIM:616482
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Molar tooth sign on MRI, Encephalocele, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:616300
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Obesity, Abnormality of neuronal migration, Gray matter heterotopia,...	ORPHA:75857
Cardiofaciocutaneous Syndrome 1	Peripheral axonal neuropathy, Hydrocephalus, Optic nerve dysplasia, Aplasia/Hypoplasia of the cor...	OMIM:115150
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c...	OMIM:259600
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Optic atrophy	ORPHA:1555
Fryns Syndrome	Aganglionic megacolon, Large for gestational age, Hypoplasia of the optic tract, Aplasia of the l...	OMIM:229850
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Small for gestational age, Elbow contracture, Camptodacty...	OMIM:208150
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia	OMIM:619476
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Shprintzen-Goldberg Craniosynostosis Syndrome	Abdominal wall muscle weakness, Microcephaly, Wide anterior fontanel, Hydrocephalus, Chiari type ...	OMIM:182212
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Hydrocephalus, Microcornea, Peripapillary atrophy	ORPHA:536467
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy, Abnormally large globe	ORPHA:363417
Wolfram Syndrome	Myopathy	ORPHA:3463
Mucolipidosis Ii Alpha/Beta	Poor head control, Diastasis recti, Increased serum beta-hexosaminidase, Myelopathy, Death in chi...	OMIM:252500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Delayed peripheral myelination, Microcephaly, Microphthalmia, Failure to thrive	ORPHA:364577
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Hydrocephalus, Flexion contracture, Keratoconjunctivitis sicca, Cerebral cortical atrophy	OMIM:616007
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Agenesis of cor...	OMIM:618820
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Wide anterior fontanel, Hydrocephalus, Flexion contracture, Camptodactyly	OMIM:207410
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Myopathy	OMIM:261740
Dpagt1-Cdg	Failure to thrive, Microcephaly, Tremor, Abnormal cerebellum morphology, Flexion contracture, Opt...	ORPHA:86309
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Poor head control, Cataract, Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpus ...	OMIM:618797
X-Linked Cerebral Adrenoleukodystrophy	Peripheral axonal neuropathy, Abnormal circulating fatty-acid concentration, Myelopathy, Hamstrin...	ORPHA:139396
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Raine Syndrome	Death in infancy, Microcephaly, Hydrocephalus, Hypophosphatemia, Neonatal death, Arthrogryposis m...	OMIM:259775
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea...	ORPHA:892
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Abnormal brainstem MRI signal intensity, Failure to thrive, Right v...	ORPHA:444013
Kabuki Syndrome	Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Obesity, Microcornea, Failure to th...	ORPHA:2322
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Isometric tremor, Dystonia, Cataract, Microcephaly, Overweight, Head titubation, Hyd...	OMIM:619475
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Focal Dermal Hypoplasia	Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Microcephaly, Ectopia lentis, Hyd...	OMIM:305600
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Tremor, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Myopathy, ...	OMIM:234200
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Otopalatodigital Syndrome Type 2	Encephalocele, Cataract, Camptodactyly of finger, Hydrocephalus, Myelomeningocele, Developmental ...	ORPHA:90652
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Holoprosencephaly-Postaxial Polydactyly Syndrome	Holoprosencephaly, Encephalocele, Hydrocephalus, Cerebellar hypoplasia	ORPHA:2166
Peters Plus Syndrome	Cataract, Corneal opacity, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Optic atrophy, ...	ORPHA:709
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Ophthalmoplegia, Corneal opacity	OMIM:163200
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Small for gestational age, Developmental cataract, Retin...	OMIM:127000
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Semilobar Holoprosencephaly	Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube defe...	ORPHA:220386
Alobar Holoprosencephaly	Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube defe...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube defe...	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube defe...	ORPHA:93924
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar tooth sign on MRI, Dilat...	ORPHA:434179
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Facial palsy, Patent ductus arteriosus, Partial agenesis of the corpus callosu...	OMIM:300373
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Cerebellar vermis hypoplasia, Corneal opacity, Shoulder muscle hypoplasia, Spin...	OMIM:274000
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Wagro Syndrome	Aniridia, Cataract, Corneal opacity, Obesity	OMIM:612469
Williams Syndrome	Elevated circulating creatine kinase concentration, Tremor, Megalocornea, Spina bifida occulta, P...	ORPHA:904
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
3Mc Syndrome 3	Corneal opacity, Diastasis recti	OMIM:248340
Abetalipoproteinemia	Myopathy, Distal lower limb muscle weakness	ORPHA:14
Cardiofaciocutaneous Syndrome	Hydrocephalus, Optic atrophy, Failure to thrive in infancy, Cerebral cortical atrophy	ORPHA:1340
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Peters anomaly, Periventricular heterotopia	OMIM:618929
Mirage Syndrome	Hydrocephalus	OMIM:617053
Dextrocardia	Hydrocephalus	ORPHA:1666
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Cystinosis, Nephropathic	Hyponatremia, Skeletal muscle atrophy, Failure to thrive in infancy, Retinal pigment epithelial m...	OMIM:219800
Gangliocytoma	Abnormal cerebellum morphology, Distal muscle weakness, Abnormal brainstem morphology, Ganglioneu...	ORPHA:251937
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Microcephaly, Macroglossia, Gray matter heterotopia, Abnormal autonomic nervous system physiology...	ORPHA:453499
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Camptodactyly of finger, Corneal opacity, Microcephaly, Keratitis, Corneal...	ORPHA:2273
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Enlarged cerebellum	ORPHA:477993
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
22Q11.2 Deletion Syndrome	Posterior embryotoxon, Cataract, Aganglionic megacolon, Spina bifida, Microcephaly, Retinal arter...	ORPHA:567
H Syndrome	Corneal arcus, Hydrocephalus, Hypertriglyceridemia, Camptodactyly	ORPHA:168569
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Mend Syndrome	Cataract, Hydrocephalus, Macular hypoplasia, Anterior polar cataract, Failure to thrive, Dandy-Wa...	OMIM:300960
Orofaciodigital Syndrome I	Hydrocephalus, Myelomeningocele, Hypothalamic hamartoma, Agenesis of corpus callosum, Cerebellar ...	OMIM:311200
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Congenital diaphragmatic hernia, Microcephaly, Aqueductal stenosis, Patent...	OMIM:154400
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Microcephaly, Patent ductus arteriosus, Optic disc coloboma, Hydrocephal...	ORPHA:261337
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity, Microcephaly	OMIM:616603
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Abnormal optic disc morphology	OMIM:617516
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma, Microcephaly, Abnormality of neuronal migrat...	ORPHA:647
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Myopathy	OMIM:612541
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the abd...	ORPHA:2462
Osteogenesis Imperfecta	Small for gestational age, Corneal opacity, Hydrocephalus, Flexion contracture, Noncommunicating ...	ORPHA:666
Mucopolysaccharidosis Type 6	Macroglossia, Failure to thrive, Opacification of the corneal stroma	ORPHA:583
Mohr Syndrome	Hydrocephalus	OMIM:252100
Scheie Syndrome	Abnormal nerve conduction velocity, Corneal opacity	ORPHA:93474
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:536545
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Abnormal autonomic nervous system physiology, Diffuse cerebellar a...	ORPHA:93256
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Trisomy 8P	Multiple joint contractures, Microcephaly, Hydrocephalus, Astigmatism, Agenesis of corpus callosu...	ORPHA:264450
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Peters-Plus Syndrome	Cataract, Diastasis recti, Microcephaly, Peters anomaly, Wide anterior fontanel, Patent ductus ar...	OMIM:261540
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Sclerocornea, Microcephaly, Aplasia/Hypoplasia of the corpus cal...	OMIM:607932
Costello Syndrome	Rhabdomyosarcoma, Wide anterior fontanel, Achilles tendon contracture, Hydrocephalus, Cerebral at...	OMIM:218040
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Cntnap2-Related Developmental And Epileptic Encephalopathy	Obesity, Cerebellar vermis atrophy, Abnormality of neuronal migration	ORPHA:163681
Fanconi Anemia, Complementation Group D2	Small for gestational age, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Hypoplasia of t...	OMIM:227646
Fanconi Anemia, Complementation Group L	Hydrocephalus, Cerebellar hypoplasia	OMIM:614083
Tyrosinemia Type 2	Tremor, Corneal opacity, Microcephaly	ORPHA:28378
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic nervous system physiology, Re...	OMIM:256800
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Fraser Syndrome 1	Encephalocele, Anophthalmia, Corneal opacity, Abnormal cortical gyration, Microcephaly, Myelomeni...	OMIM:219000
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Small for gestational age, Cataract, Hydrocephalus, Flexion contracture, Ch...	OMIM:264090
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Chime Syndrome	Retinal coloboma, Cerebral cortical atrophy, Corneal opacity	ORPHA:3474
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Opacification of the corneal stroma	OMIM:601356
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Cataract, Congenital diaphragmatic hernia	OMIM:273395
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia	OMIM:306955
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Familial Cerebral Saccular Aneurysm	Oculomotor nerve palsy, Abnormal brainstem morphology	ORPHA:231160
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla, Hypoplasia of...	OMIM:615636
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Yunis-Varon Syndrome	Cataract, Sclerocornea, Pachygyria, Hydrocephalus, Bilateral microphthalmos, Cerebellar hypoplasi...	ORPHA:3472
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Ankle flexion contracture, Microcephaly, Patent ductus arteriosus, Hyd...	OMIM:268300
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Pituitary Deficiency Due To Rathke Cleft Cysts	Oculomotor nerve palsy, Hydrocephalus, Optic nerve compression	ORPHA:91350
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Lathosterolosis	Cataract, Microcephaly, Meningocele, Microcornea, Chiari malformation, Opacification of the corne...	ORPHA:46059
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Rieger anomaly, Small for gestational age, Microcephaly, Hydrocephalus, Ec...	OMIM:194190
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Rhabdomyosarcoma, Agenesis of corpus callosum, Plexiform neurofibroma	OMIM:276300
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus, Hypocalcemia, Hypophosphatemia, Optic nerve compression	ORPHA:667
Bardet-Biedl Syndrome 20	Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dy...	OMIM:619471
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163979
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia, Abnormal...	ORPHA:411629
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Periventricular heterotopia	ORPHA:98892
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Wide anterior fontanel, Hydrocephalus, Flexion contracture, Elbow flexion contracture, Chiari mal...	ORPHA:95699
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Elevate...	ORPHA:91500
Coccidioidomycosis	Eosinophilia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, In...	ORPHA:228123
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Tetrasomy 9P	Myositis, Abnormal chorioretinal morphology, Hydrocephalus, Lissencephaly, Pachygyria, Polymicrog...	ORPHA:3310
Fanconi Anemia	Cataract, Aganglionic megacolon, Spina bifida, Microcephaly, Patent ductus arteriosus, Hydrocepha...	ORPHA:84
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Microcephaly, Keratitis, Optic atrophy, Opacification of t...	ORPHA:910
Proteus Syndrome	Abnormality of retinal pigmentation, Decreased muscle mass, Cataract, Central heterochromia, Cach...	ORPHA:744
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Dubowitz Syndrome	Cataract, Microcephaly, Wide anterior fontanel, Hydrocephalus, Aplasia/Hypoplasia of the corpus c...	ORPHA:235
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Van Maldergem Syndrome 2	Wide anterior fontanel, Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the ...	OMIM:615546
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus, Astigmatism, Sclerocornea	ORPHA:2095
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Olivopontocerebellar hypoplasia, Microcephaly, Fatigable weakness of ske...	ORPHA:284339
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Hyperphosph...	ORPHA:93325
Stuve-Wiedemann Syndrome 1	Death in infancy, Elbow flexion contracture, Knee flexion contracture, Abnormal autonomic nervous...	OMIM:601559
Listeriosis	Miscarriage, Abnormal brainstem MRI signal intensity, Tremor, Rhabdomyolysis, Conjunctivitis, Hyp...	ORPHA:533
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Facial hypotonia, Large for gestational age, Cerebellar hypoplasia, ...	ORPHA:457359
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Hydrocephalus, Ophthalmoplegia, Fatigable weakness	ORPHA:221120
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Anterior subcapsular cataract, Cataract, Postural tremor, Pos...	ORPHA:67036
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system	OMIM:620185
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Leptospirosis	Papilledema, Rhabdomyolysis, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuriti...	ORPHA:509
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos...	ORPHA:365
Schimke Immunoosseous Dysplasia	Astigmatism, Small for gestational age, Opacification of the corneal stroma	OMIM:242900
Oculoectodermal Syndrome	Patent ductus arteriosus, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the c...	OMIM:600268
Microphthalmia, Syndromic 2	Retinal detachment, Broad hallux, Sandal gap, Remnants of the hyaloid vascular system, 2-3 toe cu...	OMIM:300166
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:531151
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Failure to thrive, Corneal opacity, Microcephaly	OMIM:608670
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microcephaly, Abnormality of neuronal migration, Holoprosencephaly, Microphthalmia, Iris coloboma	ORPHA:3186
Hajdu-Cheney Syndrome	Hydrocephalus, Chiari malformation	ORPHA:955
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus, Optic atrophy	ORPHA:538
Van Den Ende-Gupta Syndrome	Sclerocornea, Elbow flexion contracture, Knee flexion contracture, Camptodactyly of 2nd-5th finge...	OMIM:600920
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
1P36 Deletion Syndrome	Myopathy, Camptodactyly of finger	ORPHA:1606
Oeis Complex	Hydrocephalus, Chiari malformation, Myelomeningocele	OMIM:258040
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Kindler Epidermolysis Bullosa	Flexion contracture, Conjunctivitis, Camptodactyly of finger, Corneal opacity	ORPHA:2908
Bartsocas-Papas Syndrome 1	Flexion contracture, Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pt...	OMIM:263650
Lathosterolosis	Cataract, Microcephaly, Myelomeningocele, Cerebral atrophy, Abnormal circulating cholesterol conc...	OMIM:607330
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity, Camptodactyly of finger	ORPHA:920
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Opacification of the corneal stroma	OMIM:215250
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Cataract, Patent ductus arteriosus, Obesity, Corneal scarr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Cataract, Patent ductus arteriosus, Obesity, Corneal scarr...	ORPHA:353277
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Chiari...	ORPHA:573278
Loeys-Dietz Syndrome 1	Hydrocephalus, Chiari malformation	OMIM:609192
Campomelic Dysplasia	Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Wide...	OMIM:114290
Larsen Syndrome	Spina bifida occulta, Corneal opacity	OMIM:150250
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Opacification of the corneal stroma	OMIM:253000
Mowat-Wilson Syndrome	Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypoplasia, Cataract, Mic...	ORPHA:2152
Dermatomyositis	Inflammatory myopathy	ORPHA:221
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Genitopatellar Syndrome	Hip contracture, Microcephaly, Periventricular heterotopia, Knee flexion contracture, Colpocephal...	OMIM:606170
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Aganglionic megacolon, Microcephaly, Keratitis, Chiari malformation, Hypoplasia...	OMIM:308205
Otopalatodigital Syndrome, Type Ii	Cataract, Elbow contracture, Spina bifida, Wide anterior fontanel, Hydrocephalus, Stillbirth	OMIM:304120
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor, Noncommunicating hyd...	ORPHA:805
Paget Disease Of Bone 2, Early-Onset	Brain stem compression, Hypercalcemia	OMIM:602080
Coffin-Siris Syndrome 12	Facial palsy, Microcephaly, Noncommunicating hydrocephalus, Chiari malformation, Hippocampal atro...	OMIM:619325
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia,...	OMIM:312870
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis	OMIM:158310
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Corneal ulceration, Corneal opacity, Weight loss	ORPHA:740
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Autosomal Dominant Cutis Laxa	Developmental cataract, Corneal opacity, Microcephaly	ORPHA:90348
Loeys-Dietz Syndrome 2	Hydrocephalus, Chiari malformation	OMIM:610168
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology	ORPHA:293987
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Hypoplasia of facial musculature, Patent ductus arteriosus...	OMIM:164210
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Remnants of the hyaloid vascular syste...	OMIM:619539
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Holoprosencephaly, Agenesis of...	OMIM:157170
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Failure to thrive in infancy, Small for gestational age, Cataract, ...	OMIM:216340
Townes-Brocks Syndrome 1	Small for gestational age, Microcephaly, Hydrocephalus, Holoprosencephaly, Chorioretinal coloboma	OMIM:107480
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Periventricular Nodular Heterotopia 9	Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular...	OMIM:618918
Digeorge Syndrome	Sclerocornea, Microcephaly, Patent ductus arteriosus, Obesity, Hypocalcemia, Posterior embryotoxon	OMIM:188400
Singleton-Merten Syndrome 1	Muscle fiber atrophy, Tendon rupture, Muscle weakness, Decreased body weight	OMIM:182250
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280

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 Fkrp

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 Fkrp.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fkrp^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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