Gene: Fig4 MGI:2143585

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

FIG4 phosphoinositide 5-phosphatase

Synonyms:

A530089I17Rik

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 Fig4 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 Fig4 (7 diseases)
Human diseases predicted to be associated with Fig4 (1192 diseases)

The table below shows human diseases associated to Fig4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im...	OMIM:611228
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Amyotrophic Lateral Sclerosis	Spasticity, Upper limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations, Neurodegen...	ORPHA:803
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Decreased skull ossification, S...	OMIM:216340
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Postnatal growth ret...	ORPHA:3472
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal palate morphology, Abnormal digit morphology	ORPHA:208441
Polymicrogyria, Bilateral Temporooccipital		OMIM:612691

The table below shows human diseases predicted to be associated to Fig4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Subacute Inflammatory Demyelinating Polyneuropathy	Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C...	ORPHA:206594
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u...	ORPHA:3416
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Decreased com...	OMIM:618279
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve co...	OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction...	OMIM:601098
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Falls, Spontaneous pain sensation, Somatic sensory dysfunctio...	ORPHA:2932
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos...	ORPHA:2790
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Hypertrophic Neuropathy Of Dejerine-Sottas	Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Decreased motor nerve conduc...	OMIM:145900
Pyle Disease	Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis...	OMIM:265900
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Peri...	ORPHA:83451
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa...	ORPHA:225154
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Hypertrophic nerve changes, Decreased motor nerve conduction velocity...	OMIM:180800
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Distal upper limb muscle weakness, Decreased motor nerve conduction...	ORPHA:99953
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo...	ORPHA:53697
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration...	ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Limb muscle weakness, Axona...	OMIM:609260
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sen...	ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Limb muscle weakness, Axonal degeneration/regeneration...	OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Tremor, Clusters of axonal regeneration, Distal sensor...	OMIM:607734
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl...	OMIM:614877
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot...	OMIM:214400
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci...	DECIPHER:29
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ...	OMIM:118200
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N...	OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li...	OMIM:607706
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o...	OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Dystrophic toenail, Fasci...	OMIM:600882
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bone morphology, Short stature, In...	ORPHA:2204
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im...	OMIM:611228
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Progressive Non-Fluent Aphasia	EEG with continuous slow activity, Temporal cortical atrophy, Frontotemporal cerebral atrophy, As...	ORPHA:100070
Spinocerebellar Ataxia Type 43	Distal upper limb muscle weakness, Cerebellar vermis atrophy, Limb ataxia, Cogwheel rigidity, Gai...	ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Impaired pain sensa...	OMIM:607684
Hereditary Motor And Sensory Neuropathy V	Spasticity, Decreased motor nerve conduction velocity, Difficulty walking, Limb muscle weakness, ...	OMIM:600361
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Fragile teeth, Thin bony cortex, Osteolysis, Prema...	OMIM:174810
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Difficulty walking, Distal...	OMIM:608323
Inherited Creutzfeldt-Jakob Disease	Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P...	ORPHA:282166
Null Syndrome	Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability...	ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot...	OMIM:118220
Neuropathy, Hereditary, With Liability To Pressure Palsies	Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal cord paralysis, ...	OMIM:162500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal sensory impairment,...	OMIM:609311
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Intrauterine growth retardation, Bowing of the long...	OMIM:619795
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Demyelinating sensory neuropathy, Somatic sensory dysfunction, Abnormal motor evoked potentials, ...	ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Axonal degeneration/regene...	OMIM:605588
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b...	ORPHA:3344
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Quadriceps muscle weak...	ORPHA:99948
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Open bite, Micrognathia...	ORPHA:2097
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata...	ORPHA:95434
Autosomal Recessive Spastic Paraplegia Type 21	Spasticity, Frontotemporal cerebral atrophy, Lower limb muscle weakness, Difficulty walking, Abno...	ORPHA:101001
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper...	ORPHA:276435
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination, Distal sensory impairment, Proxima...	ORPHA:99944
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Disproportionate short stature, Abnormal epiphysis morphology, Cari...	ORPHA:2501
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Difficulty walking,...	OMIM:605285
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B...	OMIM:249900
Charcot-Marie-Tooth Disease Type 1A	Spontaneous pain sensation, Decreased motor nerve conduction velocity, Gait imbalance, Paresthesi...	ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Foot dorsiflexor...	OMIM:606483
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Cerebellar atrophy, Incoord...	OMIM:302800
Spastic Paraplegia 55, Autosomal Recessive	Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Foot dorsiflex...	OMIM:615035
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Central nervous system degeneration	ORPHA:868
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Impaired ...	OMIM:610100
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal upper limb muscle weakness, Decreased amplitude of sensory action potentials, Failure to t...	ORPHA:90103
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M...	OMIM:221770
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Cam...	ORPHA:2635
Neuropathy, Congenital Hypomyelinating, 2	Poor head control, Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia,...	OMIM:618184
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Distal upper limb muscle weakness, Impaired pain sensation, Periphe...	OMIM:615185
Monomelic Amyotrophy	Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve conduction, ...	ORPHA:65684
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Optic atrophy, Hypopigmentation of the skin, Premature graying of hair...	ORPHA:33445
Leukodystrophy, Hypomyelinating, 18	Spasticity, Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal ...	OMIM:618404
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti...	OMIM:616040
X-Linked Charcot-Marie-Tooth Disease Type 3	Proximal muscle weakness in lower limbs, Spastic paraparesis, Decreased motor nerve conduction ve...	ORPHA:101077
Charcot-Marie-Tooth Disease, Type 4B3	Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve conduction velocity, Brai...	OMIM:615284
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Difficulty walking, Decreased compound muscle action potential amplitude, Distal lower limb muscl...	OMIM:619112
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, E...	OMIM:610951
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H...	ORPHA:2386
Krabbe Disease	Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Periphe...	OMIM:245200
Charcot-Marie-Tooth Disease Type 2B1	Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Sensory axonal neurop...	ORPHA:98856
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ...	OMIM:205100
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c...	OMIM:158580
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio...	ORPHA:93308
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axonal degeneration/rege...	OMIM:614436
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexor weakness, Distal ...	OMIM:604563
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Autosomal Recessive Primary Microcephaly	Short stature, Abnormal cortical bone morphology, Thin upper lip vermilion, Growth delay	ORPHA:2512
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Upper limb muscle weakness, Abnormal motor nerve conduction velocit...	ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Distal upper limb muscle w...	OMIM:618912
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi...	ORPHA:204
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials, Distal sensory impairment, Peripheral axonal ne...	OMIM:608673
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C...	ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Fasciculations, Foot dorsiflexor weakness, Distal sens...	OMIM:606595
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme...	OMIM:601455
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f...	OMIM:606482
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakness, Axonal degeneration/...	OMIM:620378
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Broad-based gait, Pigmentary retinopathy, Impaired vibration sensation in the lowe...	OMIM:609033
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ...	ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 57	Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Abnormality of peripheral nerve...	ORPHA:431329
X-Linked Charcot-Marie-Tooth Disease Type 6	Hand tremor, Lower limb muscle weakness, Difficulty walking, Decreased nerve conduction velocity,...	ORPHA:352675
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon...	OMIM:619862
Primary Lateral Sclerosis, Juvenile	Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea...	OMIM:606353
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peripheral myelinated n...	OMIM:607731
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Adult Krabbe Disease	Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Peripheral demyelination,...	ORPHA:206448
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Decrease...	OMIM:607677
Roussy-Lévy Syndrome	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,...	ORPHA:3115
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b...	ORPHA:1310
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,...	OMIM:302801
Juvenile Primary Lateral Sclerosis	Spasticity, Abnormal upper motor neuron morphology, Gait imbalance, Abnormal pyramidal sign, Spas...	ORPHA:247604
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Ophthalmoparesi...	ORPHA:98755
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment...	OMIM:615376
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor...	ORPHA:275872
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Distal sensory impairment, Gait disturbance, Segmental peripheral demyelination/re...	OMIM:311070
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Upper limb muscle weakness, Lower limb muscle weakness, Peripheral demyelination, Limb muscle wea...	OMIM:608340
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ...	ORPHA:99014
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Difficulty walking, Neck muscle weakness, Motor axonal n...	ORPHA:466768
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Fib...	OMIM:600081
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated...	OMIM:604484
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Foot dorsiflexor weakness, Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:616039
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Cerebellar atrop...	OMIM:607250
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort...	ORPHA:73
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnormal cranial nerve mor...	OMIM:605253
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Tooth malposition, Delayed eruption of...	ORPHA:2484
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia	ORPHA:101075
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe...	OMIM:604168
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp...	OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia...	OMIM:616688
Optic Atrophy 2	Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor	OMIM:311050
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia, D...	ORPHA:101078
Parkinsonism With Polyneuropathy	Diffuse cerebral atrophy, Decreased compound muscle action potential amplitude, Decreased motor n...	OMIM:619279
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	EEG abnormality, Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Hypopigmented skin patches, Peripheral demyelination, Hepatosple...	OMIM:609136
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Spasticity, Proximal muscle weakness in upper limbs, Decreased motor nerve conduction velocity, L...	OMIM:620068
Autosomal Dominant Spastic Paraplegia Type 17	Ankle weakness, Postural tremor, Abnormal motor nerve conduction velocity, Foot dorsiflexor weakn...	ORPHA:100998
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ...	OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	OMIM:616687
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal...	OMIM:617087
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e...	OMIM:277440
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Postnatal growth retardation, ...	OMIM:619489
Charcot-Marie-Tooth Disease Type 4D	Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Somatic sensory dys...	ORPHA:99950
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea...	OMIM:613641
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Cerebellar atrophy, Decreased nerve conduction...	OMIM:159550
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Difficulty...	OMIM:615575
Leukodystrophy, Hypomyelinating, 2	Poor head control, Optic atrophy, Spastic paraparesis, Sensory axonal neuropathy, Decreased motor...	OMIM:608804
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Ne...	OMIM:600795
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Ankle weakness, Limb muscle weakness, Foot dorsiflexor...	OMIM:118300
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Foot dorsiflexor weakness, Axonal degeneration/regeneration, Distal sen...	OMIM:607736
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Difficulty walking, Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sen...	OMIM:620111
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:264700
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Spastic Paraplegia 17, Autosomal Dominant	Spastic paraplegia, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Impair...	OMIM:270685
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co...	OMIM:619638
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor, Distal ...	ORPHA:423296
Cleidocranial Dysplasia 2	Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Failure to thrive, Hy...	OMIM:620099
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ...	ORPHA:174
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Inability to...	ORPHA:90117
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva...	OMIM:618363
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Open mouth, Splenomegaly, Thin bony cortex, Calvari...	OMIM:176920
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia, Muscle weakness	OMIM:611105
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy, Unsteady gait...	ORPHA:98916
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ...	OMIM:607641
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Dista...	OMIM:302802
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Lower limb muscle weakness, Foot dorsiflexor weakness,...	OMIM:613287
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Spastic Ataxia, Charlevoix-Saguenay Type	Spasticity, Falls, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Cerebel...	OMIM:270550
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Babinski sign,...	ORPHA:98890
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord...	ORPHA:157941
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa...	OMIM:615957
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple...	ORPHA:206443
Episodic Ataxia With Slurred Speech	Gait ataxia, Muscle weakness, Tremor, Slurred speech	ORPHA:401953
Spinocerebellar Ataxia 1	Spasticity, Proximal muscle weakness, Optic disc pallor, Progressive cerebellar ataxia, Impaired ...	OMIM:164400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in lower limbs, Spasticity, Proximal muscle weakness in upper limbs, Amy...	OMIM:613954
Behavioral Variant Of Frontotemporal Dementia	EEG with continuous slow activity, Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis,...	ORPHA:275864
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Hyp...	OMIM:241530
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn...	OMIM:614561
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Segmenta...	OMIM:607791
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Gait ataxia, Myoclonu...	OMIM:607317
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio...	OMIM:256600
Neuromyelitis Optica Spectrum Disorder	Myelitis, Somatic sensory dysfunction, Paraplegia, Peripheral demyelination, Neuronal loss in cen...	ORPHA:71211
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre...	ORPHA:2590
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,...	OMIM:607678
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Impaired vibratory sensation, Broad-based gait, Upper limb muscle weakness, Difficulty walking, D...	OMIM:620528
Spinocerebellar Ataxia Type 25	Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Babi...	ORPHA:101111
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Cerebral atrophy, Difficulty walking, Inability to walk, ...	OMIM:611890
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Sensory axonal neuropathy, Cerebral atrophy, Inability to walk, Decreased nerve co...	ORPHA:457205
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demyelination, Cholecystit...	OMIM:250100
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis	OMIM:125440
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Trichodentoosseous Syndrome	Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth	OMIM:190320
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Lower limb muscle weakness, Impaired...	OMIM:604360
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti...	OMIM:611637
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity...	OMIM:218000
Ataxia-Deafness-Intellectual Disability Syndrome	Cerebral cortical atrophy, Decreased nerve conduction velocity	ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Foot dorsiflexor weakness, Peripheral axonal neuropathy, Decreased distal sens...	OMIM:618400
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Mandibular pain, Thickened cortex of long bones, Torus pa...	OMIM:607634
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Cerebral corti...	OMIM:238970
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Sensory axonal neuropathy, Weakness of muscles of respiration, Amyotrophic lateral sclerosis, Cra...	ORPHA:52430
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Muscle weakness, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower mo...	OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetri...	OMIM:618387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased nerve...	OMIM:618138
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Spasticity, Sensory axonal neuropathy, Upper limb muscle...	ORPHA:309169
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Pigmentary retinopathy, Impaired vibration sensation in the lower limbs, Abno...	ORPHA:88628
Spastic Paraplegia With Neuropathy And Poikiloderma	Spastic paraplegia, Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebrow, Demyelina...	OMIM:182815
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:605726
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab...	ORPHA:89838
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Spastic paraplegia, Spasticity, Sensory axonal neuropathy, Impaired pain sensation, Progressive s...	ORPHA:139578
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard...	OMIM:272440
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Fail...	ORPHA:289157
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Difficulty walking, Proximal muscle weakness, Abnormal lower motor neuron morphology, Respiratory...	OMIM:611067
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Disproportionate short-limb short s...	OMIM:222600
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati...	OMIM:610532
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Malar flattening, Short 4th metacarpal, ...	OMIM:118651
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation	OMIM:608236
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo...	ORPHA:1952
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy...	OMIM:169500
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia	OMIM:616684
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Involuntary movements, Cerebral cortical atrophy, Sensory axonal neuropathy, Cereb...	OMIM:271245
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Paralysi...	OMIM:105500
Autosomal Recessive Spastic Paraplegia Type 35	Difficulty walking, Peripheral demyelination, Neck muscle weakness, Ophthalmoplegia, Spastic tetr...	ORPHA:171629
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ...	DECIPHER:59
Dystonia 31	Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof...	OMIM:619565
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception	ORPHA:231445
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysme...	ORPHA:48431
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, EEG with focal epile...	ORPHA:599373
Lethal Recessive Chondrodysplasia	Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Short long bone, Macroglossia	ORPHA:1423
Combined Oxidative Phosphorylation Deficiency 13	Leukodystrophy, Decreased nerve conduction velocity, Poor head control, Dystonia, Choreoathetosis	OMIM:614932
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal upper limb muscle weakness, Impaired distal vibration sensation, Decreased compound muscle...	OMIM:619519
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal...	OMIM:614592
Congenital Myopathy 10A, Severe Variant	Tongue fasciculations, Failure to thrive, Abnormal motor nerve conduction velocity, Diaphragmatic...	OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati...	OMIM:615490
Achondrogenesis Type 2	Hypoplastic ilia, Absent vertebral body mineralization, Delayed pubic bone ossification, Delayed ...	ORPHA:93296
Osteogenesis Imperfecta, Type Xviii	Abnormality of the dentition, Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the lo...	OMIM:617952
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Amyotrophic lateral sclerosis, Ankle weakness, Difficulty walking, Decreased ...	ORPHA:600
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R...	ORPHA:289176
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Muscle weakness, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment,...	OMIM:208920
Spastic Paraplegia 79B, Autosomal Recessive	Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti...	OMIM:615491
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Cortical sclerosis...	OMIM:122860
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Greenberg Dysplasia	Rhizomelia, Abnormal pelvis bone ossification, Micrognathia, Decreased skull ossification, Anteri...	ORPHA:1426
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Chediak-Higashi Syndrome	Hemophagocytosis, Neurodegeneration, Abnormal dense granules, Neutropenia, Ataxia, Hepatomegaly, ...	OMIM:214500
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:613265
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a...	ORPHA:79263
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Di...	OMIM:612674
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Machado-Joseph Disease Type 3	Spasticity, Degeneration of the striatum, Peripheral axonal neuropathy, Abnormal pyramidal sign, ...	ORPHA:276244
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Optic atrophy, External ophthalmoplegia, Cerebellar atrophy, Difficulty walki...	OMIM:612319
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology...	OMIM:602099
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia	ORPHA:1368
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Failure to thrive, Decreased nerve conduction velocity, Limb muscle weakness, Axonal degeneration...	OMIM:604320
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Macular Degeneration, Age-Related, 3	Peripheral axonal neuropathy, Distal muscle weakness, Distal sensory impairment, Decreased nerve ...	OMIM:608895
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Charcot-Marie-Tooth Disease Type 1B	Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve conduction velocity, Peri...	ORPHA:101082
Combined Oxidative Phosphorylation Defect Type 13	Failure to thrive, Decreased nerve conduction velocity, Limb dystonia, Poor head control, Delayed...	ORPHA:319514
Diaminopentanuria	Neurodegeneration	OMIM:222350
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Bifid uvula, Broad thumb, Abnormality of the dentition, Long philtrum, Postnatal grow...	ORPHA:576283
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di...	OMIM:603472
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Myoclonus, Intention ...	OMIM:618356
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Distal sensory impairment, Proximal muscle weakness, D...	OMIM:607831
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Friedreich Ataxia	Optic atrophy, Spasticity, Falls, Sensory axonal neuropathy, Decreased motor nerve conduction vel...	ORPHA:95
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtrum, Irregul...	OMIM:184260
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Decreased motor nerve conduction velocity, Hand tremor, Distal sensory imp...	OMIM:162400
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ...	ORPHA:69125
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen...	ORPHA:2769
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Decreased nerve conduction veloci...	OMIM:606070
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Cerebral cortical atrophy, Frontal upsweep of hair, Tremor, Delayed CN...	OMIM:300983
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Osteope...	ORPHA:2909
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Advanced ossification of carpal ...	OMIM:615777
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Disproportionate short-trunk ...	OMIM:271530
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Proximal muscle weakness, Opis...	ORPHA:300605
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Difficulty walking, Tremor, Distal sensory impairment, Muscle weakness	OMIM:615048
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, A...	OMIM:614298
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Limited elbow extensi...	OMIM:146000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Delayed ...	ORPHA:93346
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Tangier Disease	Impaired pain sensation, Impaired temperature sensation, Peripheral demyelination, Facial diplegi...	OMIM:205400
Rubinstein-Taybi Syndrome 2	Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,...	OMIM:613684
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher...	ORPHA:137898
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno...	ORPHA:1515
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor ne...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor ne...	OMIM:616437
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl...	OMIM:613608
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Motor axonal neuropathy, Proximal muscle weakness, Decreased number of...	OMIM:620542
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Proximal muscle weakness, Loss of ambulation, Distal muscle weakness	OMIM:182980
Spinocerebellar Ataxia 18	Sensory axonal neuropathy, Cerebellar atrophy, Limb muscle weakness, Tremor, Dysmetria, Progressi...	OMIM:607458
Combined Oxidative Phosphorylation Defect Type 39	Poor head control, Involuntary movements, Tip-toe gait, Cerebral atrophy, Decreased nerve conduct...	ORPHA:565624
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Proximal muscle weakness, Respirato...	OMIM:159950
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Dela...	OMIM:265800
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen...	OMIM:263570
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper...	ORPHA:221016
Cednik Syndrome	Poor head control, Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia	ORPHA:66631
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Myoclonus, Dysme...	OMIM:614487
Epilepsy, Progressive Myoclonic 7	EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Postnatal growth retardation, Joint hypermobility, 2-3 toe syndactyly, Mandibular pro...	ORPHA:2324
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Leukemia, Genu varum, Short metaca...	ORPHA:221008
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Spinocerebellar tract degeneration, Leukodystrophy, Cerebral atrophy, Tremor,...	OMIM:617916
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia, Peripheral demyelination, CNS demyelination	OMIM:250850
Developmental And Epileptic Encephalopathy 97	Inability to walk, Hypsarrhythmia, Tremor, Poor head control	OMIM:619561
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Involuntary movements, Spasticity, Failure to thrive, Cerebral atrophy, Difficulty...	ORPHA:442835
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination	OMIM:616287
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Carious teeth, Postnatal growth retardation, Intrauterine growth retardation, Decreas...	ORPHA:93324
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation...	ORPHA:79399
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Marbach-Rustad Progeroid Syndrome	Growth delay, Eruption failure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Dela...	OMIM:619322
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decrease...	OMIM:608747
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Joint hypermobility, Adducted thumb, Short long bone, Short statur...	OMIM:620269
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia...	OMIM:603516
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Splenomegaly, Generalized hirsutism, Abnormal pyramidal sign,...	ORPHA:93476
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys...	OMIM:177170
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Prominence of the premaxilla, Decreased body weight, Short sta...	OMIM:614886
Infantile Neuroaxonal Dystrophy	Optic atrophy, Spasticity, Cerebellar atrophy, Spastic tetraparesis, Abnormality of peripheral ne...	ORPHA:35069
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo...	ORPHA:249
Infantile Krabbe Disease	Hyperesthesia, Optic atrophy, Spasticity, Delayed brainstem auditory evoked response conduction t...	ORPHA:206436
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Action tremor, Hepatomegaly, Jaundice, Bradykinesia, Abn...	ORPHA:309854
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Impaired pain sensation, Cerebellar verm...	OMIM:616719
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia...	OMIM:615157
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Retrognathia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles...	OMIM:212112
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,...	ORPHA:2658
Ataxia, Sensory, 1, Autosomal Dominant	Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia...	OMIM:608984
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, T...	OMIM:128100
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Short toe, Genu valgum, Limited elbow extension, Micrognathia, Narrow m...	OMIM:614078
Stüve-Wiedemann Syndrome	Osteopenia, Abnormality of the dentition, Limitation of joint mobility, Smooth tongue, Camptodact...	ORPHA:3206
Faciocardiomelic Syndrome	Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long philtrum, La...	OMIM:612731
Spinocerebellar Ataxia, Autosomal Recessive 16	External ophthalmoplegia, Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Babi...	OMIM:615768
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Impaired pain sensati...	ORPHA:99949
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor...	OMIM:601162
Pelizaeus-Merzbacher Disease	Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto...	OMIM:312080
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext...	OMIM:615362
Phenylketonuria	Hypopigmentation of the skin, EEG abnormality	ORPHA:716
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Genu valgum, Fibular bowing, Micrognathia, Tib...	OMIM:613848
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Spasticity, Decerebrate rigidity, Tip-toe gait, Leukodystrophy, Muscle weakness, D...	ORPHA:309256
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Shoulder girdle muscle weakness, Decreased compound muscle action potential amplitude, Loss of am...	OMIM:603511
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Spastic paraplegia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act...	OMIM:256840
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Decreased amplitude of sensory action potentials, Inability to walk, Trophic ...	ORPHA:36386
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D...	OMIM:615889
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	ORPHA:895
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Genu valgum, Prominent medi...	OMIM:300602
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Pigmentary retinopathy, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inabi...	ORPHA:216866
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin...	OMIM:215470
Riboflavin Transporter Deficiency	Iris hypopigmentation, Cerebral cortical atrophy, Abnormal cranial nerve morphology, Myoclonus, T...	ORPHA:97229
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit...	ORPHA:216873
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Tooth agenesis, Recurrent fractures, Decreased calvari...	OMIM:616229
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi...	ORPHA:2710
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ...	OMIM:615924
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:277580
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Acromicric Dysplasia	Abnormal eyebrow morphology, Long eyelashes, Decreased nerve conduction velocity	ORPHA:969
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Growth delay, Downturned corners of m...	ORPHA:2409
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Slender build, Astrocytosis, Inability to walk	OMIM:611087
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Foot dorsiflexor weakness, Distal sensory impairment, Steppage gait, Axonal loss, Distal muscle w...	OMIM:614455
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Intrauterine growth retardation, Absent front...	OMIM:253250
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor, Intention t...	ORPHA:98762
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination, Small for gestational age, Muscle weakness	OMIM:616733
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Sensory axonal neuropathy, Distal sensory impairment, Motor axonal neuropathy...	OMIM:256850
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Gait disturbance, Muscle weakness, Truncal obesity	ORPHA:2928
Supranuclear Palsy, Progressive, 1	Falls, Cerebral atrophy, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Ri...	OMIM:601104
Sialidosis Type 1	Decreased nerve conduction velocity, Myoclonus, Splenomegaly, Tremor, Gait disturbance, EEG abnor...	ORPHA:812
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Fo...	ORPHA:101076
Primary Lateral Sclerosis	Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology...	ORPHA:35689
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmet...	OMIM:610185
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Spastic paraparesis, Failure to thrive, Lower limb muscle weakness, Upper limb mus...	ORPHA:254930
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ...	OMIM:600363
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Diffuse cerebral atrophy, ...	ORPHA:314632
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ...	OMIM:300423
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen...	OMIM:615127
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diplegia, Foot do...	ORPHA:329478
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Sp...	OMIM:230600
Pachydermoperiostosis	Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Osteom...	ORPHA:2796
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Bradykinesia, Neurodegeneration, Motor axonal neuropathy, Rigi...	OMIM:615643
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Spasticity, Decerebrate rigidity, Leukodystrophy, Muscle weakness, Decreased nerve...	ORPHA:309263
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Disproportionate short stature, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of th...	OMIM:609616
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Wild Type Abeta2M Amyloidosis	Decreased amplitude of sensory action potentials, Tetraparesis, Decreased nerve conduction veloci...	ORPHA:85446
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,...	OMIM:617810
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Optic atrophy, Decreased motor nerve conduction velocity, Positive Romberg si...	OMIM:601152
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Spasticity, Decerebrate rigidity, Leukodystrophy, Muscle weakness, Difficulty walk...	ORPHA:309271
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis...	OMIM:613724
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Generalized hirsutism, Cachexia, Ataxia, Abnormality of visu...	ORPHA:1933
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, ...	OMIM:614732
Pelizaeus-Merzbacher Disease, Classic Form	EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,...	ORPHA:280219
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, ...	OMIM:606002
Optic Atrophy 11	Optic atrophy, EEG with focal sharp waves, Facial diplegia, Splenomegaly, Dysmetria, Hyperkinetic...	OMIM:617302
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Reticulocytosis, Tremor, Splenomegaly, EEG abnormality, Ataxia, Dystonia, Hemol...	OMIM:612126
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	EEG with abnormally slow frequencies, Spasticity, Failure to thrive, Generalized dystonia, Inabil...	ORPHA:70472
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Jaundice, ...	ORPHA:167
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Ab...	ORPHA:101110
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p...	OMIM:605282
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Dystonia, Athetosis	OMIM:300857
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodeg...	OMIM:203700
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Cockayne Syndrome Type 3	Dry hair, Premature graying of hair, Difficulty walking, Brain atrophy, Astrocytosis, Abnormality...	ORPHA:90324
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Joint stiffness, Lymphopenia, Leukopenia, Splenomegaly, Joint hyper...	OMIM:620210
Spinal Muscular Atrophy, X-Linked 2	Tongue fasciculations, Decreased compound muscle action potential amplitude, Respiratory insuffic...	OMIM:301830
Oculopharyngeal Myopathy With Leukoencephalopathy 1	External ophthalmoplegia, Cerebral atrophy, Tremor, Proximal muscle weakness, Ataxia, Distal musc...	OMIM:618637
Charcot-Marie-Tooth Disease Type 1E	Acroparesthesia, Difficulty walking, Inability to walk, Impaired vibration sensation in the lower...	ORPHA:90658
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Postnatal gro...	OMIM:611717
Multiple Sulfatase Deficiency	Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Splenomegaly, CNS dem...	OMIM:272200
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Spasticity, Spastic paraparesis, Upper limb muscle weakness, Lower limb muscle wea...	ORPHA:320375
Spinocerebellar Ataxia 7	Optic atrophy, Spasticity, Pigmentary retinopathy, Chorea, Dysmetria, Tremor, Abnormality of extr...	OMIM:164500
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Broad secondary alveo...	ORPHA:3369
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Thin upper lip vermilio...	OMIM:619719
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly, Failure to thrive, Delayed eruption of teeth, Postnatal growth retardation, Intraut...	ORPHA:73272
Congenital Syphilis	Periostitis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Intrauterine growth retard...	ORPHA:499009
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Progressive spastic paraplegia, Cerebral atrophy, Difficulty walking, Obesity, Delaye...	ORPHA:464282
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Wide distal femoral metaphysis, Postnatal g...	OMIM:613320
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, ...	OMIM:616505
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Atrophy/Degenera...	OMIM:616192
Acromicric Dysplasia	Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Th...	OMIM:102370
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair, Cerebral atrophy	OMIM:269920
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo...	OMIM:213200
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, Ankle clonus, Loss of amb...	ORPHA:521406
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Abnormal dental morpho...	OMIM:277600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, EEG abnormality	ORPHA:411515
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness	OMIM:614373
Spinocerebellar Ataxia 25	Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe...	OMIM:608703
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cerebral atrophy	OMIM:619851
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnor...	ORPHA:485421
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem...	ORPHA:330050
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Short distal phalanx of finger, Growth delay, Dental crowding, Elbow flexion contract...	OMIM:248370
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ...	ORPHA:99956
Japanese Encephalitis	Muscle flaccidity, Opisthotonus, Neutrophilia, Paucity of anterior horn motor neurons, Choreoathe...	ORPHA:79139
Leukodystrophy, Hypomyelinating, 11	Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Failure to thrive, Myoclonus...	OMIM:616494
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Smooth...	OMIM:309583
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty...	ORPHA:79133
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