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Gene: Clp1 MGI:2138968

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CLP1, cleavage and polyadenylation factor I subunit
Synonyms:
N/A

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 Clp1 mutations

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

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

The table below shows human diseases associated to Clp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pontocerebellar Hypoplasia Type 10
Poor head control, Optic atrophy, Simplified gyral pattern, Hypertonia, Abnormal cerebral cortex ... ORPHA:411493
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Tapered finger, Syringomyelia, Spasticity, Cerebral cortical atrophy,... OMIM:615803

The table below shows human diseases predicted to be associated to Clp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Quadriceps ... ORPHA:482601
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... OMIM:302800
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... ORPHA:45448
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Hand muscle weakness, ... OMIM:616280
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Cerebral atrophy, A... OMIM:611252
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Inabili... ORPHA:2596
Spastic Paraplegia 38, Autosomal Dominant
Lower limb spasticity, Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Spa... OMIM:612335
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Decreased nerve conduction velocity, Dec... ORPHA:90103
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Babinski sign, Distal sensory impai... OMIM:615043
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... OMIM:604484
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... OMIM:619742
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:605285
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Babin... OMIM:611105
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Opti... OMIM:615658
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal muscle weakness, Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Abnorm... OMIM:300489
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Somatic sensory dysfunction, Distal muscle weakness, Babinski sign, Spas... ORPHA:357043
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Babinski sign, Spastic paraplegia, Impaired di... OMIM:616282
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
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, Proximal ... OMIM:167320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal muscle weakness, Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia,... OMIM:182960
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Distal ... OMIM:613710
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Cerebral a... OMIM:614255
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Clonus, Spastic paraplegia, Babinski sign, Scissor gait, Hypertonia, Gai... OMIM:615686
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Distal muscle weakness, Spinal muscular atrophy, Distal sensory imp... OMIM:614881
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic... OMIM:615025
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Prog... OMIM:620285
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal muscle weakness, Impaired distal vibration sensation, Distal amyotrophy, Steppage gait, Fo... OMIM:618036
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:600361
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis, Weakness of the intrins... OMIM:614373
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston... ORPHA:300605
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... ORPHA:101097
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Progressive external ophthalmoplegia, Cerebellar atrophy, Ataxia,... OMIM:208920
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Areflexia of upper limbs, Dysmetria, Gait ataxia, Limb ataxia, Dysdia... OMIM:616291
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... ORPHA:99947
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Microcephaly, Respiratory insufficiency due ... OMIM:618276
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Babinski sign, Abnormal cerebellar cortex morphology, Gait ataxia, Spast... ORPHA:101111
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Proximal... OMIM:500002
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin... OMIM:158600
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn... OMIM:616155
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Dysmetria, Limb ataxia, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:601472
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Claw hand deformity, Impaired pain sensation, Impaired distal vibration sensat... OMIM:618511
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... ORPHA:435387
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... ORPHA:178400
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... OMIM:253400
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial m... OMIM:205100
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Hyporeflexia of upper limbs OMIM:615705
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Distal muscle weakness, Ankle flexion contracture, Babinski sign, K... ORPHA:320370
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal muscle weakness, Distal sensory impairment, Distal amyotrophy, Steppage gait, Gait disturb... OMIM:616625
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Microcytic anemia,... OMIM:618811
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... OMIM:620068
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Waddling gait, Babinski sign, Cerebral atrophy, Hammertoe, Scoliosis, Spasticity OMIM:619090
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Vocal cord paresis, Distal mu... OMIM:614895
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosi... ORPHA:496689
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Onion bulb formation, Tibialis anterior muscle atrophy, Peripheral axonal ... OMIM:615035
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... OMIM:616230
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Small hand, Abnormal pyrami... OMIM:617435
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Oculopharyngodistal Myopathy
Loss of ambulation, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weak... ORPHA:98897
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca... OMIM:158580
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Cerebral... OMIM:611302
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Distal muscle weakness, P... OMIM:616040
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Inability to walk, Cerebral atrophy, Upper limb spasti... OMIM:618468
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... OMIM:607596
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere... OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Ataxia, Corpus callosum atrophy,... OMIM:619389
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... OMIM:611890
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Respiratory insufficiency OMIM:617892
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Hypertonia, Upper limb spast... OMIM:613925
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Scoliosis, Spastic tetraparesis, Brain atrophy OMIM:618741
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Kyphosis, Babinski sign,... OMIM:614409
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... OMIM:105500
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Onion bulb formation, Decreased d... OMIM:607684
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... ORPHA:98756
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Calcaneovalgus deformity... ORPHA:93952
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Distal sensory... OMIM:610250
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal muscle weakness, Hand muscle weakness, Distal s... OMIM:608323
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Microcephaly, Centrally nucleated skeletal m... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp... OMIM:128100
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Cerebral atrophy, Truncal ataxia OMIM:611726
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Diaphragmatic para... OMIM:620011
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Camptodactyly of finger, Slurred speech, Gait ataxia, Flexion contracture of toe OMIM:619323
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Hammertoe,... OMIM:618387
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... ORPHA:488594
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... ORPHA:100985
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Inability to walk, Babinski sign, Spastic paraple... OMIM:611225
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... OMIM:607565
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ... OMIM:618088
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Scolios... OMIM:611067
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... OMIM:613728
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Arts Syndrome
Ataxia, Progressive muscle weakness, Optic atrophy, Spinal cord posterior columns myelin loss, Te... OMIM:301835
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... OMIM:610357
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,... OMIM:312920
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607731
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Babinski sign, Tip-toe gait, Difficulty w... OMIM:615681
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607677
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Proximal lower limb amyotr... OMIM:616668
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of... OMIM:604320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I... OMIM:619216
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Atrophy/Degeneration affecting th... OMIM:617862
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move... ORPHA:98759
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait, Muscle weakness OMIM:612539
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of the upp... ORPHA:65684
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Clubbing of fingers... OMIM:618973
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... OMIM:608634
Pontocerebellar Hypoplasia Type 1
Ataxia, Hypoplasia of the pons, Degeneration of anterior horn cells, Tongue fasciculations, Aplas... ORPHA:2254
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Respiratory insufficie... OMIM:617087
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Poor head control, Decreased ... OMIM:618184
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... OMIM:157640
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dystonia, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spasti... OMIM:618404
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... OMIM:616981
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:600794
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... OMIM:616286
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Microcephaly, Simplified gyral pattern, Hypo... OMIM:613402
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy OMIM:610951
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... ORPHA:3115
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... ORPHA:94124
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,... OMIM:613287
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal muscle weakness, Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased ... OMIM:618279
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... OMIM:224050
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Scoliosis... OMIM:159950
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Dystonia, R... OMIM:607136
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:606595
Congenital Disorder Of Glycosylation, Type Iiz
Appendicular spasticity, Diffuse cerebellar atrophy, Clonus OMIM:620201
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:610100
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Failure to thrive OMIM:615596
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous... OMIM:143100
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot... OMIM:182980
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Knee flexion contracture, Tip-toe gait, D... ORPHA:401785
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... OMIM:608673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... OMIM:600882
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Impaired temperature sensation, Impai... ORPHA:99940
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis OMIM:300857
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Sen... ORPHA:445062
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Distal muscle weakness, Postura... OMIM:270685
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Secondary microcephaly, Myoclonus... OMIM:606777
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Cerebral white matter atrophy, Peripheral axonal neuropathy, Babinski sign, O... ORPHA:468661
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Senso... ORPHA:101081
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping OMIM:614369
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... ORPHA:401820
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... OMIM:613811
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesis, Hyperto... ORPHA:71277
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Gowers sign, Limb-girdle muscle we... ORPHA:254361
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... OMIM:605361
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Athetosis, Tetraparesis, Dystonia, Failure t... OMIM:619310
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisis, Tremor, Inability to w... ORPHA:330050
Dysequilibrium Syndrome
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance ORPHA:1766
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cere... ORPHA:527497
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Dysmetria, Atrophy/Degeneration affectin... OMIM:617954
Gne Myopathy
Scapular winging, Hip flexor weakness, Muscle fiber inclusion bodies, Facial palsy, Tibialis musc... ORPHA:602
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... ORPHA:98
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... ORPHA:139485
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab... ORPHA:320391
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak... OMIM:158590
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... OMIM:617633
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Impaired distal proprioception, Abnormal pyramidal sig... OMIM:616688
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... OMIM:615889
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spastic Paraplegia 77, Autosomal Recessive
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... OMIM:617046
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... OMIM:604168
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... OMIM:162500
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, Spastic paraparesis, Oliv... OMIM:615157
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Proximal muscle weakness, Low... OMIM:615575
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ulnar deviation of the hand, Kyphoscoliosis, Impaired ... OMIM:275900
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... OMIM:271150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Ankle w... OMIM:118300
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... OMIM:254110
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Facial-ling... ORPHA:276244
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616437
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... OMIM:619054
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness OMIM:610003
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Hand tremor OMIM:253550
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... OMIM:616907
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... ORPHA:79263
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... ORPHA:98896
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal ... OMIM:610743
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Waddling gait, Spastic ataxia, Lower limb spasticity, Degeneration of the lat... OMIM:607259
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased compound muscle action ... OMIM:301830
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Bilateral single transverse pa... ORPHA:85317
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Periventricular Nodular Heterotopia 8
Spasticity, Cerebellar vermis atrophy OMIM:618185
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal muscle weakness, Axonal degeneration/regeneration, Thenar muscle atrophy, Segmental periph... OMIM:606483
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia, Brachydactyly OMIM:618879
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Frequent f... OMIM:301020
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Dysplastic corpus callosum, Flexion contracture, ... OMIM:613162
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... OMIM:213200
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... ORPHA:88628
Gordon Holmes Syndrome
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy OMIM:212840
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Scoliosis, Dystonia, Loss of ... OMIM:611390
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Abnormality of the dorsal column of the spinal cord, Impaired... ORPHA:137898
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Talipes equinovarus, Scoliosis, Intent... OMIM:233400
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Internally nucleated skele... ORPHA:178464
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Peripheral axonal neurop... ORPHA:99953
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... ORPHA:169186
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Onion bulb formation, Microcephaly, Decreased nerve conduction velocity,... OMIM:615284
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... OMIM:607250
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Titubation, Dysmetria OMIM:619405
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, D... OMIM:615376
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:612319
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Single transverse palmar crease, Kyphosis, Unsteady gait, Scoliosis OMIM:300861
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, Dysmetria, Impaired distal vibrati... OMIM:618438
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Distal muscle weakness, Ataxia, Proximal muscle weakness, Gowers sign, Babinski si... OMIM:617882
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Distal muscle weakness, Decreased distal sensory nerve action poten... OMIM:618400
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Gait distu... ORPHA:309162
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc... OMIM:609311
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Scissor gait, Spasticity, Hypertonia, Abnormal periventricular white mat... ORPHA:401805
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... OMIM:617560
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Spinocerebellar tract degeneration... OMIM:183090
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Elbow flexion contracture, Cerebellar hypoplasia, Myo... OMIM:619303
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Clonus, Ragged-red muscle fibers, Abnormal pyramidal sign, Dysmetria, Ax... OMIM:616479
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi... OMIM:600561
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... ORPHA:101085
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... ORPHA:610
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Distal muscle weakness, Peripheral axonal neuropathy, Proximal muscl... ORPHA:99939
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:612069
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Microcephaly, Progressive muscle wea... OMIM:615919
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... OMIM:604360
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Impaired dis... OMIM:616680
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Difficulty walking OMIM:619425
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Hypertonia, Spastic tetraplegia, Cerebral atrophy OMIM:618730
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tre... ORPHA:363717
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Failure to thrive OMIM:617132
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Myoclonus, Cerebellar hypoplasia, Atrophy/Degene... OMIM:619971
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Scoliosi... OMIM:618241
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigidity, Reduced forced vita... OMIM:255600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Masa Syndrome
Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum OMIM:303350
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... OMIM:616287
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia OMIM:617899
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Hyperkinetic ... OMIM:614254
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal... OMIM:605820
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
Acute Peripheral Arterial Occlusion
Paralysis, Leukocytosis, Paresthesia, Impaired distal tactile sensation, Limb muscle weakness ORPHA:90064
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes... OMIM:616924
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ... OMIM:611722
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Skeletal muscle atrop... ORPHA:254875
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Paresthesia, Fasciculations, Muscle weakness ORPHA:85162
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... OMIM:620166
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal motor neuron mo... ORPHA:52430
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... ORPHA:139480
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Impaired te... OMIM:619686
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... ORPHA:803
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... OMIM:210000
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Spastic tetraplegia, Dystonia, Neonatal death, Failure to thrive OMIM:618237
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Episodic Ataxia Type 1
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait,... ORPHA:37612
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Optic atrophy, Spasticity ORPHA:772
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Decreased nerve... ORPHA:101078
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Steppage gait... OMIM:620378
Gemignani Syndrome
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation ORPHA:2074
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy OMIM:618501
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Somatic sensory dysfunction, Microcephaly, Achilles tendon contracture, ... OMIM:620323
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Ataxia, Athetosis, Decreased body weight, Failure to thrive, Cerebral cortica... OMIM:614559
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Frequent falls, Reduced muscle fiber alpha dystroglycan, Microcephaly, Fatty ... ORPHA:370980
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired... ORPHA:99013
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Tremor,... ORPHA:2590
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat... OMIM:300717
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Microcephaly, Spastic paraplegia, Abnormal cerebral white matter morphol... OMIM:615683
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper limb amyotrophy, Gait disturbance... ORPHA:101075
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... OMIM:162100
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor ORPHA:98771
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Microcephaly, Respiratory insufficiency, Scoliosis OMIM:617404
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... OMIM:270800
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Progressive muscle we... OMIM:607426
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Respira... ORPHA:370968
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Short neck, Dysmetria, Gait ataxia, Cerebral atrophy ORPHA:320385
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Cerebral atrophy, Athetosis, Hyperki... OMIM:617493
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... ORPHA:99944
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Impaired vibration sensation in the low... OMIM:159550
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Temporal cortical atrophy, Spastic tetraplegia, Sp... ORPHA:621
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Talipes equinovarus... OMIM:618917
Syringomyelia, Noncommunicating Isolated
Lower limb spasticity, Areflexia of upper limbs, Unsteady gait, Babinski sign, Gait ataxia, Enlar... OMIM:186700
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facia... OMIM:609285
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia 25
Cerebellar atrophy, Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Sc... OMIM:608703
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Respiratory insufficiency, Respiratory failure, Hypoplasia of the c... OMIM:616081
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tapered finger, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria,... OMIM:616505
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... ORPHA:453521
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Mepan Syndrome
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Gai... ORPHA:508093
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Paresthesia, Talipes equ... ORPHA:466794
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Distal lower limb amyotrophy, Impaired pain sensation, Distal senso... OMIM:615185
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... ORPHA:98755
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:607678
Porphyria, Acute Hepatic
Respiratory paralysis, Hemolytic anemia, Paresthesia, Paralysis OMIM:612740
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Cerebral atrophy, Myopathy, Hyperkinetic movements,... ORPHA:369847
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... ORPHA:90117
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Autophagic vacuoles, Proxima... OMIM:618655
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal mot... ORPHA:352596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral cortical atrophy OMIM:615911
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia OMIM:617836
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Ataxia, Failure to thrive in infancy, Finger clinodactyly, Talipes equinovaru... OMIM:611182
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Skeletal muscle atrophy, Poor head control, Scapular winging, Proximal muscle weak... OMIM:620389
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu... OMIM:605726
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebellar hypoplasia, Cerebr... ORPHA:33445
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... ORPHA:329284
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... ORPHA:228360
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Difficulty walk... ORPHA:280763
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Sensory axonal... OMIM:137200
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Inability to walk, Kyphoscoliosis, Cerebral atrophy OMIM:618006
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Split hand,... OMIM:610127
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Cere... OMIM:619922
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Hand muscle weakness, Cerebral atrophy, Cogwheel ri... ORPHA:254886
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:617915
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... OMIM:600363
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia,... OMIM:618598
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Pachygyria, Facial palsy, Abnormal cerebral white mat... OMIM:606612
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Rigidity, Babi... ORPHA:100984
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Bulbar palsy, Scapular winging, Lower limb spasticity, Spinal mus... OMIM:615290
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia OMIM:618141
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Hyperextensibility of the finger joints, Hypermobility of toe joints, Gait at... ORPHA:488635
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Peripheral axonal neuropathy, Spastic paraplegia, Distal sensory impairm... OMIM:263570
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Athetosis, Dystonia, Loss ... OMIM:617951
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:171863
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, P... ORPHA:99950
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Babins... ORPHA:88644
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcephaly, Microcytic anemia, Pro... OMIM:600462
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Brain atrophy, Cerebral cor... ORPHA:306669
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Swan neck-like deformities of the fingers, Ataxia, Lo... OMIM:270550
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ... ORPHA:363429
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemi... OMIM:615512
Microlissencephaly
Cerebellar atrophy, Hypertonia, Cerebral cortical atrophy ORPHA:1083
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Talipes equinovarus, Scolios... OMIM:617481
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Dystonia, Failure to ... OMIM:300475
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Babinski sign, Leukoencephalopathy, Cerebral atroph... OMIM:221770
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally n... OMIM:608358
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... OMIM:611523
Rigid Spine Syndrome
Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function testing, Respiratory... ORPHA:97244
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... ORPHA:2589
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Inability to walk, Appendicular spasticity OMIM:618324
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Ataxia, Kyphoscoliosis, Inability to walk, Babinski sign, Spasticity, Talipes... OMIM:616354
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Peroneal muscle atrophy, Thenar muscle atrophy, Degeneration of the latera... ORPHA:171617
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Distal muscle weakness, Congenital muscular torticollis, Ca... OMIM:158810
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Cerebral atrophy, Bilateral ... ORPHA:544469
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Inability to walk, Spastic tetraparesis, Dandy-Walker malformation ORPHA:438178
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ... ORPHA:284289
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairme... OMIM:302802
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Generalized mus... OMIM:612954
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Kyphoscoliosis, Respiratory insuffi... ORPHA:1145
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Hyperextensibility of the finger joints, Ataxia, Babinski sign, Dysmetria, Dy... OMIM:618356
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri... OMIM:603516
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Thoracic scoliosis, Hypoplasia of the pons, Cerebral atrophy, Lumbar scoliosi... OMIM:616171
Nemaline Myopathy 6
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Gait disturbance, Limb muscle weakness, ... OMIM:609273
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Oph... OMIM:610542
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sens... OMIM:605589
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign,... ORPHA:100996
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... OMIM:614298
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Inability to walk, Spasticity OMIM:617086
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Distal s... OMIM:311070
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... ORPHA:100988
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par... OMIM:109150
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Subs... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Subs... ORPHA:276241
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... OMIM:607694
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebell... ORPHA:313772
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Obes... OMIM:616267
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... OMIM:300718
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Cerebral atrophy, Progressive cerebellar ataxia, ... ORPHA:263516
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Scholte Syndrome
Cerebellar atrophy, Kyphoscoliosis, Acromicria, Small hand, Abnormal pyramidal sign, Patellar hyp... OMIM:300977
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Distal sensory impairme... OMIM:607791
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Arachnodactyly, Gait d... ORPHA:412057
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Episodic Ataxia Type 6
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia ORPHA:209967
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Decreased body weight, Short 3rd toe, Cerebral atrophy, Short 2nd toe, Short ... OMIM:619060
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Episodic Ataxia, Type 6
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... OMIM:612656
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Distal muscle weakness, Corp... OMIM:601162
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Cerebellar vermis hypoplasia, Respiratory insufficiency due to musc... OMIM:618291
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Scoliosis, Dystonia OMIM:619071
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas... OMIM:183050
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait distu... ORPHA:101006
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... OMIM:211530
Christianson Syndrome
Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce... ORPHA:85278
Cog7-Cdg
Cerebellar atrophy, Small for gestational age, Short neck, Long fingers, Abnormal finger morpholo... ORPHA:79333
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... OMIM:608340
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri... ORPHA:98761
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ... ORPHA:401815
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Co... OMIM:607454
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cere... ORPHA:168486
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short thumb, Kyphosis, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th ... OMIM:618453
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:2585
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro... OMIM:256850
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... ORPHA:53351
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency OMIM:618328
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Arachnodactyly, Cerebral atrophy, Dysmetria, Scoliosis, Spasticity OMIM:301006
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... ORPHA:1947
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,... OMIM:300816
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Peripheral axonal neuropathy, Facial pals... OMIM:617519
Proximal Myopathy With Extrapyramidal Signs
Abnormal basal ganglia MRI signal intensity, Resting tremor, Peripheral axonal neuropathy, Ataxia... ORPHA:401768
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Inability to walk OMIM:616721
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Multifocal cerebral white matter abnormalities, Hem... ORPHA:140989
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Inability to wal... OMIM:312080
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Cerebra... OMIM:620269
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Respiratory ... ORPHA:329336
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, Progre... ORPHA:513436
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal... OMIM:601455
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, B... ORPHA:98768
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Cerebral atrophy, Dysmetria, Tongue fasciculations, Ce... OMIM:618170
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:605253
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Cerebral atrophy, Respiratory failure, Aspiration p... OMIM:619057
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Atrophy/Degeneration affecting the brainstem, Respiratory failure, Brain... OMIM:616277
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, Spinal cana... ORPHA:1320
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Respiratory ... OMIM:225753
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Microcephaly, Corpus callosum atrophy, Tremor, Impaired distal vibration... OMIM:616586
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Gait ataxia, Generalized amyotrophy, Myoclonus, Action myoclonus, Frequ... OMIM:616540
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Involuntary movements, Generalized muscle weakness, Tongue fasciculation... ORPHA:238329
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... ORPHA:319199
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Distal muscle w... OMIM:601152
Riboflavin Transporter Deficiency
Optic disc pallor, Bulbar palsy, Skeletal muscle atrophy, Ataxia, Facial palsy, Tremor, Abnormal ... ORPHA:97229
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Frontotemporal cerebr... ORPHA:79097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Facial palsy, Hyperlordosis, Microcephaly, Respiratory insufficienc... OMIM:613156
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Ataxia, Babins... OMIM:609195
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor... ORPHA:289494
Spinocerebellar Ataxia 47
Ataxia, Tapered finger, Chorea, Small hand, Dysmetria, Spasticity, Clinodactyly, Cerebellar vermi... OMIM:617931
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili... OMIM:619473
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tend... OMIM:300695
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Microcephaly, Short neck, Dyspnea, Respiratory failure ORPHA:1832
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Scoliosis, Limb dystonia, Spasticity OMIM:619125
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis OMIM:619042
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short f... OMIM:618392
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the c... ORPHA:1188
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... OMIM:614153
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... OMIM:609033
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy, Spinal rigidity OMIM:604801
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Impai... OMIM:162400
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Bulbar palsy, Pe... ORPHA:254930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria OMIM:618098
Myasthenic Syndrome, Congenital, 10
Waddling gait, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Ophth... OMIM:254300
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atrophy, Gait disturban... OMIM:615838
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem OMIM:613612
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Adducted thumb, Babinski sign, Spastic tetraplegia, T... OMIM:612936
Spinocerebellar Ataxia Type 3
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Abnormal pyramidal sign, Vocal cor... ORPHA:98757
Congenital Myopathy 16
Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Tongue tremor, Scoliosis OMIM:618524
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Ataxia, Dysmetria OMIM:618384
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Reduced vital capacity, Hyperlordosis OMIM:607088
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Intellectual Developmental Disorder, Autosomal Dominant 62
Increased arm span, Scoliosis, Arachnodactyly, Cerebellar vermis atrophy OMIM:618793
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia OMIM:614306
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Respiratory insufficiency due to muscle weakness, R... OMIM:161800
Ane Syndrome
Motor neuron atrophy, Kyphoscoliosis, Microcephaly ORPHA:157954
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, L... ORPHA:100986
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... OMIM:612674
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Loss of ambulation, Skel... OMIM:619518
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress,... OMIM:312170
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased ner... ORPHA:101082
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Ck Syndrome
Hyperlordosis, Microcephaly, Kyphosis, Scoliosis, Pachygyria, Polymicrogyria OMIM:300831
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Sm... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyram... OMIM:606002
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Ataxia, Babinski sign, Brain atrophy, Dystonia, Lethargy, Failure to thrive OMIM:618226
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Kyphosis, Split hand, Unsteady gait, Obesity, Distal sensory imp... OMIM:618124
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Distal amyot... OMIM:607736
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Facial palsy OMIM:615348
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Poor coordination, Axonal degeneration, Neurodegeneration, Abnormal autonomic n... ORPHA:478029
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus OMIM:618567
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Cerebrotendinous Xanthomatosis
Abnormal globus pallidus morphology, Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxi... ORPHA:909
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Cerebral atrophy OMIM:618637
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, N... OMIM:615643
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Somatic sensory dysfunction, Optic atrophy, Abnormal pyramidal sign, Progr... ORPHA:1177
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Harel-Yoon Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Scoliosis, Dystonia, Spasticity OMIM:617183
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa... ORPHA:79139
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Failure to thrive, Tremor, Kyphosis, Inability to walk... OMIM:617988
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Impaired pain sensation, Impaired temperature sensation, Centrally nuclea... OMIM:619574
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inabilit... OMIM:617695
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal muscle weakness, Impaired temperature sensation, Inability to walk, Di... ORPHA:36386
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness, Hepatosplenomegaly OMIM:614885
De Sanctis-Cacchione Syndrome
Ataxia, Microcephaly, Basal ganglia calcification, Babinski sign, Optic atrophy, Scissor gait, Ce... OMIM:278800
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Cerebral atrophy, Tetraplegia, Choreoathetosi... OMIM:616034
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, A... OMIM:619566
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration... ORPHA:868
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis ORPHA:99014
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Distal muscle weakness, Peripheral... OMIM:617070
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls OMIM:615217
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Brain atroph... OMIM:614739
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Poliomyelitis
Skeletal muscle atrophy, Bulbar palsy, Abnormal motor nerve conduction velocity, Hypoplasia of th... ORPHA:2912
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance OMIM:617166
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression, Scoliosis, Hypo... OMIM:222600
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis, Dystonia OMIM:619966
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, A... OMIM:230650
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Lewy bodies OMIM:619133
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Unsteady gait, Impaired distal vibratio... OMIM:614871
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Kyphosis, Chorea, Abnormal pyramidal sign, Cerebral a... ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Ataxia, Rigidity, Basal ganglia necrosis, Gait disturbance, Muscle weakness OMIM:618239
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100993
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus, Tapered finger OMIM:617507
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia... ORPHA:101076
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations OMIM:620007
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... ORPHA:496756
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, Brain atrophy,... ORPHA:369939
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Microcephaly, Abnormal sacrum morphology, Vertebral segmentation defec... ORPHA:1797
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol... OMIM:618056
Allan-Herndon-Dudley Syndrome
Macrocephaly at birth, Skeletal muscle atrophy, Poor head control, Ataxia, Microcephaly, Generali... ORPHA:59
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Respiratory paralysis, In... ORPHA:681
Multiple Mitochondrial Dysfunctions Syndrome 3
Microcephaly, Optic atrophy, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Hy... OMIM:615330
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Gait disturbance, Periodic paralysis, Fatigable weakness OMIM:614198
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoli... ORPHA:48431
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... OMIM:614575
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Craniofacial dystonia, Dystonia OMIM:617054
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Kyphosis, Unsteady gait, Obesity, Cerebra... ORPHA:464282
Baralle-Macken Syndrome
Tapered finger, Inability to walk, Kyphosis, Obesity, Dystonia, Spasticity, Global brain atrophy OMIM:619255
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal muscle weakness, Decreased nerve conduction velocity, Distal... OMIM:608895
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weak... OMIM:616165
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Cerebral atrophy OMIM:619605
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Cerebellar hypoplasia, ... OMIM:619422
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ... OMIM:619092
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Gow... OMIM:609560
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Abnormal cerebellum morphology,... ORPHA:324737
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperkinetic movements, Ataxia OMIM:271980
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Atrophy/Dege... OMIM:608027
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Cerebellar hemispher... OMIM:615095
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Thrombocyt... OMIM:617710
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Single transverse palmar crease, Clonus, Chorea... OMIM:612389
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoliosis, Hyperlord... OMIM:603034
Hyperekplexia 4
Cerebral atrophy, Respiratory failure, Kyphoscoliosis OMIM:618011
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... ORPHA:542310
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spastic tetraparesis, Cerebellar vermis atrophy, Cerebral atrophy, Spasticity, Dandy-Walker malfo... OMIM:616154
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Ataxia, Facial palsy, Optic atrophy, Clumsiness, Neck muscle weakness, Generalized ... OMIM:614707
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Ataxia, Spastic tetraparesis, Proximal muscle weaknes... ORPHA:3208
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Optic disc pallor, Exaggerated startle response, Multiple joint con... ORPHA:320406
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Spasticit... OMIM:616811
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Neuropathic spinal arthropathy, Failure to thrive, Impaired pain sensation, I... ORPHA:99949
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... OMIM:256050
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Short neck, Cerebral atrophy, Tongue fasciculations, Fasciculations, Spastici... OMIM:618065
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Ataxia, Inability to walk, Dysmetria, Spasticity, Cerebellar hypoplasia, Dystonia, Oc... OMIM:618087
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Microhydranencephaly
Skeletal muscle atrophy, Poor head control, Multiple joint contractures, Microcephaly, Spastic te... OMIM:605013
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... ORPHA:276198
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Rabies
Vocal cord paresis, Cerebral palsy, Paresthesia ORPHA:770
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Onion bulb formation, Optic neuropathy, Tibialis ... ORPHA:320375
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Spastic paraplegia OMIM:300076
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Spinal rigidity, Respiratory insufficiency, Hyperlordosis ORPHA:157973
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ... OMIM:618443
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure OMIM:313420
Myopathy, Distal, 3
Distal muscle weakness, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, Late-on... OMIM:610099
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... OMIM:606324
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign... OMIM:300055
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Pr... OMIM:620138
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykinesia, Titubation, Gait ... ORPHA:225147
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus OMIM:619780
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centra... OMIM:617760
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Spasticity, Upper motor neuron d... OMIM:500001
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss, Tip-toe gait, Gai... ORPHA:216866
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Frequent fa... ORPHA:353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Proximal lower limb amyotrophy, Hip contracture, Distal muscle weak... OMIM:600175
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Hand muscle weakness, Proximal muscle weakness, Degeneration of the latera... ORPHA:320355
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Peripheral demyelination OMIM:616684
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus... ORPHA:477774
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Kyphosis, Gait dist... ORPHA:505652
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Microcep... OMIM:314580
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Babinski sign, Cerebral atrophy, Gait ataxia, Sensory ataxia, Atrophy/Degener... OMIM:616192
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hyperlordosis, Kyphosis, Short toe, Obesity, Brachydactyly ORPHA:3085
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Microcephaly, Abnormal cerebral cortex morphology, Pachygyr... ORPHA:251383
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Babinski sign, Abnormal pyramidal... OMIM:617339
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... OMIM:253600
Filippi Syndrome
Cerebellar atrophy, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Fi... OMIM:272440
Gm2-Gangliosidosis, Ab Variant
Poor head control, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnorma... OMIM:272750
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Abno... ORPHA:447753
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Peroneal muscle weakness, Progressive dist... OMIM:181405
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Tetraplegia, Gait imbalance, Dystonia, S... OMIM:619641
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Gait ataxia, Dysmetria, Bradykinesia... OMIM:610217
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Gillespie Syndrome
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia OMIM:206700
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Microcephaly, Proximal muscle weakness, Limb-girdle muscle weakness, Gowers sign, ... ORPHA:86812
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Microcephaly, Respiratory insuffic... OMIM:618186
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Microcephaly, Ragged-red m... OMIM:616239
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi... OMIM:256810
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:619690
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Corpus ... ORPHA:98673
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Chorea, Cerebral atrophy, Opisthotonus, Cerebellar hypoplasia, Myoc... OMIM:616672
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive OMIM:619556
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ... ORPHA:99956
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor, Microcephaly, Corpus callosum atrophy, Babinski sign, S... ORPHA:447760
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Hyperextensibility of the finger joints, Kyphosis, Cerebral atrophy, Scoliosi... OMIM:619797
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Abdominal wall muscle weakness, Scapular winging, Facial palsy, Beevor's... OMIM:158900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebr... ORPHA:1192
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Impaired vibration sensation ... ORPHA:352641
Liang-Wang Syndrome
Cerebellar atrophy, Ataxia, Cerebral atrophy, Dystonia OMIM:618729
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Microcephaly, Fused cervical vertebrae ORPHA:2522
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Cerebral atrophy, Gait disturbance OMIM:618012
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Dystonia OMIM:618868
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Small for gestational age, Rocke... OMIM:214150
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Atrophy/Degeneration affecting the bra... OMIM:613477
Dna2-Related Mitochondrial Dna Deletion Syndrome
Exertional dyspnea, Hyperlordosis ORPHA:352470
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t... ORPHA:457205
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ... ORPHA:228346
Pure Mitochondrial Myopathy
Waddling gait, Progressive external ophthalmoplegia, Scapular winging, Distal muscle weakness, Ne... ORPHA:254854
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Ankle weakness, Weakness of the intr... ORPHA:98913
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Talipes equinovarus ORPHA:85288
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Op... ORPHA:682
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Os odontoideum, Ataxia, Cerebral atrophy, Cervical myelopathy, Tetraparesis, ... OMIM:619260
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Cerebellar atrophy, Spinal rigidity, Respiratory insufficiency du... ORPHA:352447
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia OMIM:233910
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Cog8-Cdg
Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Failure to t... ORPHA:95428
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Cach Syndrome
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Dysmetria, Limb ataxia, Spastic diplegia, A... ORPHA:135
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Cerebellar atrophy, Rocker bottom foot, Spastic tetraparesis OMIM:618506
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Cerebral atrophy, Respiratory failure, Scoliosis, Progressive micro... ORPHA:79327
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Ra... ORPHA:480
Allan-Herndon-Dudley Syndrome
Ataxia, Clonus, Microcephaly, Inability to walk, Flexion contracture, Babinski sign, Spastic tetr... OMIM:300523
Dk1-Cdg
Progressive muscle weakness, Progressive microcephaly ORPHA:91131
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Facial palsy, Reduced forced vital capacity, Respiratory insufficiency due ... OMIM:255310
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy OMIM:203740
Shukla-Vernon Syndrome
Cerebellar atrophy, Long fingers, Broad-based gait, Tapered finger OMIM:301029
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Gait ataxia, ... OMIM:619259
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Onion bulb formation, Periphe... OMIM:218000
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Dystonia,... OMIM:256000
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Ataxia, Loss of ability to walk in first decade, Hyper... OMIM:300243
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Sandal gap, Tremor, Kyphosis, Small hand, Gait ataxia, Short foot, Abdominal obesity, Cerebellar ... OMIM:300354
Tay-Sachs Disease
Skeletal muscle atrophy, Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Gliosi... ORPHA:845
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Rhizomelia, Ataxia, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3... OMIM:617164
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi... OMIM:615356
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... OMIM:256840
Anauxetic Dysplasia 2
Relative macrocephaly, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short... OMIM:617396
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign,... OMIM:500013
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Lumbar hyperlordosis, Optic nerve hypoplasia, Olivopontocerebellar hypop... ORPHA:370959
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotrophy, Calf muscle hypertr... OMIM:601287
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Cerebral cortical atrophy OMIM:300983
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Neuronal loss in central nervous system, Myelitis ORPHA:71211
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Microcephaly, Progressive muscle weakness, Inability to... ORPHA:488632
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy, Macrocephaly OMIM:618240
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Hyperkineti... OMIM:620089
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Congenital Disorder Of Glycosylation, Type Id
Cerebellar atrophy, Failure to thrive, Spastic tetraparesis, Long fingers, Cerebral atrophy, Hype... OMIM:601110
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... OMIM:618249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa... OMIM:253601
Myopathy, Centronuclear, 2
Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis OMIM:255200
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Generalized muscle weakness, Flexion cont... ORPHA:171433
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy OMIM:609924
Superficial Siderosis
Cerebellar atrophy, Back pain, Ataxia, Impaired temperature sensation, Impaired pain sensation, A... ORPHA:247245
Nemaline Myopathy 7
Respiratory insufficiency due to muscle weakness, Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Cerebral atrophy, Res... OMIM:245400
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... OMIM:620161
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis ORPHA:75840
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Poor head control, Choreoathetosis OMIM:614932
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Microcephaly, Rigidity, Optic atrophy, Myopathy, Hypertonia, Cer... ORPHA:559
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy OMIM:108500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Cerebral white matter atrophy, Tremor, Myelopathy, Cerebral edema, Leukoencephalopat... OMIM:617186
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... OMIM:607483
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Small for gestational age OMIM:618302
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Ataxia, External ophthalmoplegia, Ophthalmoplegia, Optic atrophy, Distal... OMIM:613559
Pontocerebellar Hypoplasia, Type 1B
Cerebellar atrophy, Skeletal muscle atrophy, Poor head control, Flexion contracture, Cerebral atr... OMIM:614678
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Proximal muscle weakness, External ophthal... OMIM:160150
Mohr-Tranebjaerg Syndrome
Tremor, Intrinsic hand muscle atrophy, Spasticity, Dystonia, Abnormal posturing OMIM:304700
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus ORPHA:352582
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Central nervous system degeneration, Myopathy, Abno... ORPHA:98907
Huppke-Brendel Syndrome
Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:614482
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Single transverse palmar crease, Involuntary movements, Tapered finge... OMIM:617804
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tet... OMIM:613744
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Tapered finger, Inability to walk, Dysmetria, Spasticity, Scoliosis, ... OMIM:619576
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Congenital Myopathy 21 With Early Respiratory Failure
Spinal rigidity, Dyspnea, Respiratory failure, Nocturnal hypoventilation, Brain atrophy, Thin cor... OMIM:620326
Mucolipidosis Iv
Cerebellar atrophy, Babinski sign, Spastic tetraplegia, Dystonia OMIM:252650
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Dysmetria, Bilater... OMIM:619708
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... OMIM:610131
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity ORPHA:2429
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Hypochondroplasia
Hyperlordosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Scoliosis, Macrocephaly ORPHA:429
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv... ORPHA:95433
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Spasticity, Cerebral atrophy OMIM:618008
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle ... ORPHA:209335
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Choreoathetosis, Gait disturbance, Scol... ORPHA:702
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Distal muscle weakness, Proximal muscle weakness, Babinski sign, Distal amyotro... OMIM:162370
Pseudoachondroplasia
Metaphyseal widening, Cervical cord compression, Short phalanx of finger, Genu varum, Waddling ga... OMIM:177170
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Spastic tetraparesis OMIM:619470
Fried Syndrome
Skeletal muscle atrophy, Cerebral calcification, Gait disturbance, Spastic diplegia ORPHA:85335
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Gait disturbance, Myoc... ORPHA:412217
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap... OMIM:270700
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... ORPHA:268882
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Brain... OMIM:618228
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Variegate Porphyria
Paralysis OMIM:176200
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo... ORPHA:569
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Peripheral a... ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Microcephaly, Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Abnormality o... OMIM:276950
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Torticollis, Ataxia, Scoliosis, Limb hypertonia OMIM:618547
Myopathy, Distal, 1
Lumbar hyperlordosis, Facial palsy, Scoliosis OMIM:160500
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Poor head control, Ataxia, Abnormal morphology of musculature of pharynx, ... ORPHA:280210
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Cataract-Intellectual Disability-Hypogonadism Syndrome
Microcephaly, Cerebral cortical atrophy, Scoliosis, Hyperlordosis ORPHA:1387
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals... ORPHA:297
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Poor head control, Hypoplasia of the musculature, Ankle flexion contracture, Res... ORPHA:2020
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Lower limb spasticity, Ata... OMIM:617193
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin... ORPHA:79264
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Frontotemporal cerebral atrophy, Eyelid myoclonus, Atrophy/Degeneration affec... OMIM:619606
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Single transverse palmar crease, Partial absence of cerebellar vermis, Unstea... ORPHA:329224
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Increased vertebral height, Babinski sign, Abnormal ... OMIM:248500
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Opisthotonus, Death in childhood, Respiratory failure, Lateral ve... OMIM:619847
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Gait ataxia, Scoliosis, Spasticity, Spastic gait ORPHA:496790
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Atrophy/Degeneration... ORPHA:77299
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Obesity, Shuffling... ORPHA:3077
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Microcephaly, Increased vertebral height, Hypoplas... OMIM:616817
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Cerebellar atrophy, Cerebellar vermis atrophy, Decreased body weight OMIM:618347
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Obesity, ... OMIM:301900
Joubert Syndrome 30
Cerebellar atrophy, Postaxial hand polydactyly, Superior cerebellar dysplasia, Dandy-Walker malfo... OMIM:617622
Lissencephaly 8
Appendicular spasticity, Skeletal muscle atrophy, Microcephaly, Optic atrophy, Hypoplasia of the ... OMIM:617255
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Acrocapitofemoral Dysplasia
Macrocephaly, Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Slc35A2-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Camptodactyly of finger, Abnormality of the han... ORPHA:356961
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Myoclonus, S... OMIM:615851
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis ORPHA:276630
Neuroferritinopathy
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C... ORPHA:157846
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta... ORPHA:93314
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Microcephaly, Opisthotonus, Respiratory failure, Polymicrogyria OMIM:610678
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypertonia, Cerebral atrophy, Dystonia OMIM:614654
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Myoclonus, He... OMIM:103050
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Myoclonus, Dysmetria OMIM:618251
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia OMIM:610333
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Abnormal pyr... ORPHA:35069
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... OMIM:609541
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Oculomotor apraxia, Spastic paraplegia, ... OMIM:614969
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... ORPHA:442835
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... ORPHA:98863
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Progressive external ophthalmoplegia, Scapular winging, Skeletal muscle atrophy, Proximal muscle ... OMIM:617069
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive external ophthalmoplegia, Gowers sign, Ophthalmoparesis, Myopathy, Shoulder girdle mu... OMIM:615156
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... ORPHA:98853
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myopathy, Periodic paralysis OMIM:613345
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... ORPHA:98805
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Microcytic anemia, Respirato... OMIM:612073
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Paresthesia, Generalized amyotrop... ORPHA:79279
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Rigidity, Inability to walk, ... OMIM:257200
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Opisthotonus, Leukoencephalopathy, Respiratory failu... OMIM:605711
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Dpm1-Cdg
Cerebellar atrophy, Abnormal dentate nucleus morphology, Sandal gap, Ataxia, Cerebral atrophy, Po... ORPHA:79322
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Cerebral white matter atrophy, Onion bulb formation, T... OMIM:610532
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Limb-girdle muscle weakness, Rhabdomyolysis... ORPHA:79240
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Cerebral atrophy, Limb hypertonia OMIM:617276
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Dystonia OMIM:616299
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Single transverse palmar crease, Tremor, Overweight, Hyperkinetic movements, Upper limb spasticit... ORPHA:457240
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Tetraplegia, Dystonia, Lethargy, Cerebral cortica... ORPHA:254913
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity... ORPHA:397744
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis OMIM:170400
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Tapered finger, Hypertonia, Scoliosis, Finger joint hypermobility, Metacarpop... ORPHA:544503
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Tremor, Dystonia OMIM:615010
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy OMIM:615084
Congenital Myopathy 3 With Rigid Spine
Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:602771
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp... ORPHA:240071
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death OMIM:253310
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Brain atrophy, F... OMIM:620327
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis,... OMIM:618476
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ... OMIM:616516
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Scapular winging, Skeletal muscle atrophy, Calf muscle p... ORPHA:352479
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis, Gait disturbance ORPHA:1875
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac... ORPHA:521411
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent ductus arteriosus, Abnormal cortical gyration, Respiratory ... OMIM:616867
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Hemolytic anemia, Paralysis OMIM:612300
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Short neck, Kyphosis, Failure to thrive, Global brain atrophy OMIM:608776
Glioblastoma
Paralysis, Abnormal cerebral white matter morphology, Muscle weakness, Cerebral edema, Abnormal c... ORPHA:360
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Absent septum pellucidum, Hyperlordosis, Periventricular heterotop... OMIM:618870
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Short fourth metatarsal, Brachydactyly, Ataxia, Single transverse palmar crea... OMIM:618143
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Dystonia, Corpus callosum atrophy, Cerebral atrophy, Brain atrophy, Scoliosis... OMIM:616875
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Tremor, Cerebral atrophy, Respiratory failure, Limb dystonia, Neuronal loss in c... ORPHA:363400
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness OMIM:106100
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthotonus, Tetraplegia, Hyperto... OMIM:619272
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Tetraparesis,... OMIM:616827
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, ... ORPHA:543470
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Respiratory insufficiency, Fa... ORPHA:171436
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy... ORPHA:314404
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis ORPHA:62
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Short neck, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyra... OMIM:615673
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the... ORPHA:500144
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Cerebellar hypo... ORPHA:238750
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Flexion contracture, Muscle weakness ORPHA:87876
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di... ORPHA:168491
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Optic atrophy, Thin corpus... ORPHA:477814
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Rett Syndrome
Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Scoliosis, Truncal ataxia, S... OMIM:312750
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Babinski sign, Cerebral atrophy, Ankle clonus, Scolios... OMIM:618397
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Hand muscle weak... ORPHA:99965
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Thrombocytopenia OMIM:274240
Myofibrillar Myopathy 11
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Gowers sign, Z-band streami... OMIM:619178
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Arachnodactyly, Myoclonus, Cerebral atrophy OMIM:619609
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Megalencephaly, Kyphosis, Hydrocephalu... OMIM:616482
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Centra... OMIM:255320
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Ataxia, Tremor, Small hand, Upper limb undergrowth, Pontocerebellar atrophy, Camptoda... OMIM:608799
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Brachioradialis areflexia, Cerebral atrophy, Opis... OMIM:616271
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal cord compressi... ORPHA:94068
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Cerebellar atrophy, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe... OMIM:618659
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Neurogenic bladder, Recur... ORPHA:496641
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Proximal muscle weakness, Gowers sign, Generalized muscle weakness, Flex... OMIM:613723
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Single transverse palmar crease, Tapered finger, Spasticity, Limb hypertonia OMIM:616212
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebellar atrophy, Short neck, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion cont... OMIM:616266
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis, ... ORPHA:449285
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Flexion contracture of finger, Failure to thrive, Small for gestational age, ... OMIM:193700
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonu... OMIM:213700
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Absent distal phalanx of the 2nd toe, Abs... OMIM:618658
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... ORPHA:97349
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Hypoplasia of the corpus callosum, Death in ch... OMIM:614922
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Oromotor apraxia, Hemiparesis, Hypoplasia of the pons ORPHA:300573
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Short neck, Tr... OMIM:300966
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Microcephaly, Scoliosis, Hyperlordosis ORPHA:2511
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban... ORPHA:93256
East Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Difficulty walking, Action tremor ORPHA:199343
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Peho Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus, Tapered finger OMIM:260565
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Optic atrophy, Leukoencephalopathy, Respiratory failure OMIM:618233
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Prog... ORPHA:264580
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreoathetosis, Spa... ORPHA:445038
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Cerebral calcification, Ataxia, Microcephaly, Decreased nerve conduction... ORPHA:1933
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral cortical atrophy ORPHA:2047
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Scoliosis, Prominent fingertip pads, Di... ORPHA:480898
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Anterior concavity of thoracic vertebrae, Limb ataxia, Truncal ataxia, Cerebell... OMIM:617101
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Focal T2 hyperintense basal ganglia lesion, Respiratory failure, Generalized dystonia, Abnormal c... ORPHA:70472
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis ORPHA:206546
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy, Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment OMIM:300614
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter... ORPHA:313892
Multiple Sulfatase Deficiency
Cerebellar atrophy, Broad hallux, Ataxia, Cerebral atrophy, Hypoplastic vertebral bodies, Spastic... OMIM:272200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Spasticity, Abnormal pyramidal sign, Decreased body weight OMIM:614833
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp... OMIM:113500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Hypoplasia of the ulna, Ataxia, Large for gestational age, Babinski sign, Cer... OMIM:615398
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Scoliosis, ... OMIM:300337
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... ORPHA:99642
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Hypoplasia of the pons, Optic atrophy, Spastic tetraplegia, Thin corpus ... OMIM:619527
Craniosynostosis 6
Cerebellar atrophy, Dandy-Walker malformation, Spina bifida occulta, Scoliosis OMIM:616602
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Thoracic scoliosis, Cerebellar vermis hypoplasia, Rhizomelia, Single transver... OMIM:611209
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrictive ventilatory... OMIM:607155
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis OMIM:618363
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Gait disturbance, Scoliosis, Hemiplegia, Adducted thumb ORPHA:2181
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Neonatal death OMIM:618393
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Foot dorsiflexor weakness, Facial palsy, In... OMIM:617114
Alexander Disease
Cerebral calcification, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Tremor, Megalencephaly... ORPHA:58
Stt3B-Cdg
Cerebellar atrophy, Failure to thrive ORPHA:370924
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Ataxia, Small for gestational age, Cerebral atrophy, Short foot, Choreoatheto... OMIM:615471
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Tremor, Splenomegaly, Slurr... ORPHA:812
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Choreoathetosis, Opisthotonus, Hand c... OMIM:619580
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Proximal muscle weakness, Scapuloperoneal weakness, Limb-girdle musc... OMIM:255160
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Camptodactyly of finger, Short neck, Truncal ataxia... ORPHA:263487
Stt3A-Cdg
Cerebellar atrophy, Failure to thrive ORPHA:370921
Oculoskeletodental Syndrome
Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, Scoliosis, Focal white matter lesions ORPHA:557003
Three M Syndrome 1
Neonatal respiratory distress, Hyperlordosis, Short neck, Increased vertebral height, Spina bifid... OMIM:273750
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Elbow flexion contrac... ORPHA:536516
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... OMIM:253010
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Proximal muscle weakness, Centrally... OMIM:620310
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Ataxia, Clumsiness, Subcortical cerebral atrophy, Cerebral cortical atrophy ORPHA:309288
Neuraminidase Deficiency
Skeletal muscle atrophy, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Slurred sp... OMIM:256550
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Cerebral cortical atrophy, Global brain ... OMIM:617802
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, C... ORPHA:1194
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Failure to thrive OMIM:615597
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... OMIM:264180
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Gm1 Gangliosidosis
Generalized dystonia, Dystonia, Hyperlordosis, Tremor, Kyphosis, Patent ductus arteriosus, Optic ... ORPHA:354
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Small for gestational age, Decreased palmar creases, Kyphosis, Narrow palm, Hyper... ORPHA:352490
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Choreoacanthocytosis
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate... OMIM:200150
Bethlem Myopathy 2
Kyphosis, Scapular winging, Scoliosis OMIM:616471
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia OMIM:619286
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Facial palsy, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hyper... ORPHA:258
Madras Motor Neuron Disease
Bulbar palsy, Distal muscle weakness, Facial palsy, Babinski sign, Optic atrophy, Distal amyotrop... ORPHA:137867
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis ORPHA:267
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Generalized muscle weakness, Hand tremor, Periodic paralysis OMIM:609153
Sandhoff Disease
Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired ... OMIM:268800
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Microcephaly, Optic atrophy, ... OMIM:615419
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Limb dystonia, Lethargy, Neuronal loss in ce... OMIM:604377
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... OMIM:183900
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Ankle flexion contracture, Respiratory insufficiency du... ORPHA:1143
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Reduced cerebral white matter volume, Inability to walk, Babinski sign, ... OMIM:616420
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Poor head control, Distal muscle weakness, Scapular wingi... ORPHA:98915
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, Cerebral atrophy, Dysmetr... ORPHA:94147
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Dystonia, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Talipes equin... OMIM:619124
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Inability to walk, Sm... OMIM:615547
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Bilateral talipes equinovarus, Talipes equin... OMIM:618484
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Gait atax... OMIM:617011
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Failure to thrive, Cerebral atrophy OMIM:614857
Mevalonic Aciduria
Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Failure to thrive in infancy, Kyphosco... OMIM:610377
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory insufficiency due ... ORPHA:365
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nu... OMIM:615578
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Small for gestational age, Failure to thrive in infancy, Po... OMIM:618891
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Ataxia-Telangiectasia
Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spasticity, Lymphopenia ORPHA:100
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetria, Dysdiadocho... OMIM:617675
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Tapered finger, Babinski sign, Truncal obesity, Lowe... OMIM:301072
Muscular Dystrophy, Duchenne Type
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven... OMIM:310200
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cong... OMIM:618578
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Braddock-Carey Syndrome 1
Microcephaly, Agenesis of corpus callosum, Hyperlordosis OMIM:619980
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Ataxia, Inability to walk, Flexion contracture, Hypoplasia of the brains... ORPHA:481152
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency, Abnormal form of the vertebral... ORPHA:93941
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Scoliosis, Brain atrophy, Decreased body weight OMIM:278760
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Thrombocytopenia, Leukocytosis, Abnormal cerebral white matter morphology, Abnormal au... ORPHA:83601
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H... ORPHA:206436
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Basal ganglia calci... OMIM:135100
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep... ORPHA:98914
Congenital Myasthenic Syndrome
Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep... ORPHA:590
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Decreased palmar creases, Kyphosis, Hypertonia, Scolio... OMIM:615834
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency, Microcephaly OMIM:609981
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Restrictive ventilator... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Waddling gait, Limited elbow movement, Kyphoscoliosis, Kyphosis, Broad palm, Talip... OMIM:300280
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Single transverse palmar c... ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Microcephaly, Optic atrophy, Respiratory failure, Hypoplasia... OMIM:617301
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure... OMIM:234250
Warburg Micro Syndrome 4
Cerebellar atrophy, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral cortical atrophy OMIM:615663
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec... ORPHA:2789
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Ataxia, Facial palsy, Autophagic vacuoles, Proximal muscle weakness, Exte... OMIM:164310
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Proximal muscle weakness, Fatigable weakness, Myopathy, Distal a... ORPHA:42
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Galloway-Mowat Syndrome 9
Cerebellar atrophy, Cerebral cortical atrophy, Choreoathetosis OMIM:619603
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Spasticity, Ataxia, Cataplexy OMIM:604121
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ... ORPHA:2759
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Microcephaly ORPHA:2375
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Li... OMIM:616812
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Intracerebral periventricular calcifications, Ap... OMIM:608836
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Encephalomalacia, ... ORPHA:506
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... OMIM:310300
Kanzaki Disease
Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneration, White mater abnormalit... OMIM:609242
Wieacker-Wolff Syndrome, Female-Restricted
Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Inability to walk, Talipe... OMIM:301041
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Hypoxemia, Restrictive vent... ORPHA:15
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... OMIM:212065
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Restrictive ventilatory defect, Cerebral white matter atrophy, Microcephaly, Hyperlordosis ORPHA:369840
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Macrocephaly OMIM:146000
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Sideroblastic anemia, Distal muscle weakness, Rhabdomyolysis, Ophthalmop... OMIM:255125
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Periventricular white matter hyperintensities, Scoliosis OMIM:619719
Cimdag Syndrome
Cerebellar vermis hypoplasia, Ataxia, Chorea, Cerebral atrophy, Pontocerebellar atrophy, Cerebell... OMIM:619273
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Hand tremor, Lumbar kyphosis in in... ORPHA:3041
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Rocker bottom foot, Adducted thumb ORPHA:89844
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi... ORPHA:83629
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Patent ductus arteriosus, Cerebral atrophy, Hypopnea, Respirator... OMIM:617248
Three M Syndrome 3
Increased vertebral height, Microcephaly, Hyperlordosis, Short neck OMIM:614205
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis OMIM:617352
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... ORPHA:100070
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Kyphosis, Camptoda... OMIM:609128
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Broad thumb, Cerebellar hypoplasia, Broad distal phalanx of finger, Cerebral ... OMIM:617763
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Microcephaly, Babinski sig... ORPHA:101000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Upper airway obstruction, Platyspondyly, Squared-off platyspondyly, Sc... ORPHA:93352
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormal form of the vertebral bodies, Hand polydac... ORPHA:475
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Microcephaly, Optic atrophy, Thick corpus callosum, Cer... OMIM:216550
Myotonia Permanens
Dyspnea, Asthma, Hyperlordosis ORPHA:99735
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Preaxial polydactyly, ... ORPHA:163681
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Neck muscle weakness, Mus... OMIM:614302
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,... ORPHA:139396
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C... ORPHA:48818
Sandestig-Stefanova Syndrome
Primary microcephaly, Respiratory failure, Hypoplasia of the corpus callosum, Short neck OMIM:618804
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Microcephaly, Facial palsy, Hyperlordosis ORPHA:3068
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Spastic tetr... OMIM:619909
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Poor head control, Myopathy, Muscle weakness ORPHA:300179
Smith-Mccort Dysplasia 1
Waddling gait, Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia o... OMIM:607326
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis OMIM:619542
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Broad palm, Cerebral atrophy OMIM:268020
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:619451
Pseudohypoaldosteronism Type 2
Muscle weakness, Periodic paralysis ORPHA:757
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Ophthalmoparesi... ORPHA:79102
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... OMIM:146500
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Facial palsy, Hyperlordosis, Scoliosis, Macrocephaly, Spina bifida occulta ORPHA:2780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Respiratory failure, Hypopla... OMIM:616538
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Facial palsy, Scoliosis ORPHA:353327
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Waddling gait, Hyperlordosi... ORPHA:98855
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Microcephaly, Dyspnea, Optic atrophy, Respiratory failure ORPHA:2707
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Dystonia, Ataxia, Small for gestational age, Spastic tetraplegia, Cerebral at... OMIM:251300
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Short femur, Cerebral atrophy, Talipes equinovarus, Short tibia, Lethargy, Li... OMIM:620306
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia, Neuronal loss in c... ORPHA:683
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Bra... ORPHA:254892
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Kyphosis, Oculomotor apraxia, Scoliosis ORPHA:3454
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, Trem... ORPHA:85293
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Kyphosis, Babinski sign, Retrocerebellar cyst, ... ORPHA:364028
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... OMIM:310440
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypertonia, Myoclonus, Spasticity, Failure to thriv... OMIM:618426
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Bilateral Polymicrogyria
Cerebellar atrophy, Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Pseudobul... ORPHA:268940
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Syndactyly, Hypoplasia of the pons, Cerebral atrophy, Failure to thrive OMIM:616430
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Overlapping toe, Ataxia, Proximal placement of thumb, Tapered finger, Cerebel... OMIM:616737
Dilated Cardiomyopathy With Ataxia
Bilateral basal ganglia lesions, Lower limb spasticity, Ataxia, Optic atrophy, Hypochromic microc... ORPHA:66634
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Short metatarsal, Tibial bowing, Femoral bowing, Thoracic kypho... OMIM:223800
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Muscle weakness, Paralysis OMIM:176000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Dystonia, Small for gestational age, Coxa valga, Inability to walk, Chorea, C... ORPHA:404454
Rett Syndrome
Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnorma... ORPHA:778
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Ophthalmoparesis, ... OMIM:617143
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Broad-based gait, Microcephaly, Contractures of the large joints, Muscle... OMIM:616716
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Optic disc coloboma, Spina bifida occulta OMIM:169550
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Muscle weakness, Periodic paralysis OMIM:188580
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Ulnar deviation of the 3rd finger, Ataxia, Proximal placement of thumb, Long ... OMIM:616263
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, C... ORPHA:209905
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Abnormal cerebral white matter morphology, Respiratory fai... ORPHA:330021
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Arachnodactyly, Scoliosis, Bilateral single transverse palmar creases ORPHA:1548
Achondroplasia
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Megalencephaly, Hydrocephalus, Uppe... OMIM:100800
Distal Deletion 10Q
Lumbar hyperlordosis, Microcephaly, Patent ductus arteriosus, Facial diplegia, Lateral ventricle ... ORPHA:96148
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonus, Atrophy/Degeneration a... OMIM:614946
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep... OMIM:220110
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyl... ORPHA:220493
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... OMIM:180870
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Microcephaly, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Gitelman Syndrome
Ataxia, Paralysis, Rhabdomyolysis, Generalized muscle weakness, Paresthesia, Muscle weakness OMIM:263800
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Secondary microcephaly, Cerebellar hypoplasia, Scoliosis, Hyperlordosis OMIM:300986
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Optic atrophy, Respiratory insufficiency, Respiratory failure, Secondary micr... OMIM:618329
Slc39A8-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Inability to walk, Elbow flexion contracture, C... ORPHA:468699
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Biparietal narrowing, Scoliosis, Hyperlordosis ORPHA:1323
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Scoliosis, Ocul... ORPHA:220497
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Tremor, Dyspnea, Patent ductus arteriosus, Optic atrophy, Res... OMIM:610505
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
12Q14 Microdeletion Syndrome
Tremor, Syringomyelia, Chiari malformation, Scoliosis, Clinodactyly of the 5th finger, Failure to... ORPHA:94063
Richards-Rundle Syndrome
Distal amyotrophy, Hypertonia, Ataxia, Gait disturbance ORPHA:1399
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Tremor, Choreoathetosis, Myoclonus, Short... ORPHA:1934
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Coffin-Lowry Syndrome
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Kyphosis, Ab... ORPHA:192
Diastrophic Dysplasia
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Elbow... ORPHA:628
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Anencephaly, Hydro... ORPHA:63259
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... OMIM:203700
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Cerebral atrophy, Tetraple... ORPHA:2396
Microphthalmia, Lenz Type
Hyperlordosis, Microcephaly, Kyphosis, Optic disc coloboma, Aplasia/Hypoplasia of the corpus call... ORPHA:568
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Arthrogryposis, Distal, Type 5
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosis, Absent phalangeal cr... OMIM:108145
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Hepatosplenomegaly, Distal ... OMIM:609136
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Tethered cord, Low back pain, ... ORPHA:573278
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Absent septum pellucidum, Short neck, Microcephaly, Patent ductus arteriosus, A... OMIM:300868
Becker Muscular Dystrophy
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking, Muscle weakness ORPHA:98895
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypertonia, P... OMIM:277590
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis... ORPHA:502423
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Cervica... OMIM:607095
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Microcephaly, Lumbar scoliosis, Macrocephaly, Cervical C2/C3 vertebral fusion OMIM:617796
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla... OMIM:255800
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Distal muscle weakness, Ataxia, Facial palsy, Foot joi... ORPHA:456312
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy OMIM:618244
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp... ORPHA:3098
Dysostosis, Stanescu Type
Cerebral calcification, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Scoliosis ORPHA:1798
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Distal muscle weakness, Abnormal peripheral myelination, Steppage gait, ... ORPHA:168563
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Dysmetria, Truncal obesity, Dysdiadochokinesis, Gait disturbance, Aprax... OMIM:616541
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Microcephaly, Diffuse white matter abnormalities, Hydrocephalus,... OMIM:259720
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal central motor function, P... ORPHA:3385
Clark-Baraitser syndrome
Tapered finger, Kyphosis, Broad palm, Obesity, Genu valgum, Scoliosis, Short palm OMIM:300602
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis, Macrocephaly ORPHA:582
Developmental And Epileptic Encephalopathy 4
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the cor... OMIM:618603
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Spasticity, Oromotor apraxia ORPHA:466934
Three M Syndrome 2
Relative macrocephaly, Hyperlordosis, Lumbar hyperlordosis, Short neck OMIM:612921
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Hallermann-Streiff Syndrome
Spina bifida, Hyperlordosis, Microcephaly, Optic disc coloboma, Recurrent pneumonia, Choreoatheto... OMIM:234100
Walker-Warburg Syndrome
Skeletal muscle atrophy, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Opti... ORPHA:899
L1 Syndrome
Skeletal muscle atrophy, Aganglionic megacolon, Hemiplegia/hemiparesis, Gait disturbance, Spasticity ORPHA:275543
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy OMIM:615760
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Abnormal metatarsal morphology, Kyphoscoliosis, Flat capital femoral e... ORPHA:93360
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis, Bilateral single transverse palmar creases ORPHA:2471
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ... OMIM:617799
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyp... ORPHA:476126
Camurati-Engelmann Disease, Type 2
Waddling gait, Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Muscle weakness OMIM:606631
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Pancytopenia, Paralysis, Abnormality of the spleen, Ophthalmoplegi... ORPHA:2072
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebellar hypoplasia, Scolio... OMIM:618590
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Relative macrocephaly, Lumbar hyperlordosis, Abnormal respiratory system physiology, Short neck ORPHA:171866
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Hydrocephalus, Bronchiectasis, Respira... ORPHA:244
Hyperkalemic Periodic Paralysis
Episodic flaccid weakness, Periodic hyperkalemic paralysis OMIM:170500
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Poor head control, Skeletal muscle atrophy, Ataxia, Optic ... OMIM:252010
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... ORPHA:94080
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficien... OMIM:607625
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Large for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Spastic... OMIM:614080
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Relative macrocephaly, Lumbar hyperlordosis, Short neck, Platyspondyly, Bronchospasm OMIM:612813
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Single transverse pa... OMIM:300998
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Cerebral atrophy, Failure to thrive, Postaxial polydactyly OMIM:614576
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Short foot, Abnormal diap... ORPHA:3409
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Long palm, Scoliosis OMIM:300676
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Single transverse palmar crease, Short neck, Kyphosis, Scoliosis, Clinodactyly ORPHA:178148
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Fibular bowing, Horizontal sacrum, Scol... OMIM:112350
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Hypoplasia of the odontoid process, Hydrocephalus, Spinal canal stenosis, Coronal ... OMIM:616007
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Brachydactyly, Scoliosis, Short distal phalanx of finger ORPHA:1858
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Abnormal medul... OMIM:601992
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Microcephaly, Temporal cortical atrophy, Hypoplasia of the corpus callos... OMIM:618862
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Single transverse palmar crease OMIM:618541
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Paten... ORPHA:457395
Cadds
Cerebellar atrophy, Dystonia ORPHA:369942
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Microcephaly ORPHA:2013
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Cerebral atrophy, Hippocampal atrophy, Failure to thrive, Limb hypertonia OMIM:618922
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Short neck, Aplasia/Hypoplasia of the cerebellar vermi... ORPHA:254346
Argininemia
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... OMIM:207800
15Q24 Microdeletion Syndrome
Small for gestational age, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe m... ORPHA:94065
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Kyphosis, Abnormal for... ORPHA:3219
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Lumbar hyperlordosis, Cerebral calcification, Short neck, Patent ductus art... ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract,... OMIM:253800
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Abnormal basal ganglia MRI signal intensity, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Parkinsonism, Tremor, Intrinsic hand muscle atrophy, Fasciculations,... ORPHA:329478
Biotinidase Deficiency
Lethargy, Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ataxia OMIM:253260
Inhalational Botulism
Muscle weakness, Paralysis ORPHA:254504
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Spina bifida, Hydrocephalus, Prominent protruding coccyx, Abnormal form of ... ORPHA:2839
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp... OMIM:615574
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, S... ORPHA:175
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia, Hypoplasia of t... ORPHA:88618
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Dysdiadochokinesis, Ataxia, Intention tremor OMIM:612780
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Thoracic scoliosis, Pilonidal sinus, Short neck, Elbow flexion contracture, B... OMIM:252940
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Spina bifida occulta, Gait disturbance ORPHA:2840
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Spasticity OMIM:616683
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Relative macrocephaly, Respiratory failure OMIM:617895
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Spinal rigidity, Kyphosis, Talipes equinovarus, Scoliosis, Increased laxity of finge... OMIM:254090
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Anemia, Muscle weakness ORPHA:371
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy, Opisthotonus OMIM:619685
Pycnodysostosis
Cerebral dysmyelination, Hyperlordosis, Kyphosis, Stridor, Spondylolysis, Scoliosis, Spondylolist... ORPHA:763
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterior wedging of L2, ... OMIM:253200
Marden-Walker Syndrome
Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Talipes equinovarus, Scoliosis, Camp... OMIM:248700
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Sco... OMIM:130060
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Neonatal respiratory distress, Lumbar hyperlordosis, Microcephaly OMIM:602471
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Loss of ambul... ORPHA:2388
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Hypoplasia of the corpus callosum OMIM:619185
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Schwartz-Jampel Syndrome
Death in infancy, Abnormally ossified vertebrae, Apnea, Short neck, Hyperlordosis, Kyphosis, Spin... ORPHA:800
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Small for gestational age, Single transverse palmar crease, Metatarsus adduct... OMIM:614866
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Relative macrocephaly, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Reduced forced expiratory v... OMIM:613385
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Proximal muscle weakness, Myopathy, Muscular dystrophy, Lower limb muscl... OMIM:615980
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Ataxia, Tremor, Central Y-shaped... ORPHA:2754
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia OMIM:610651
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Severe Congenital Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171430
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... OMIM:602557
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, Short 3rd metacarpal, Failu... OMIM:169400
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Sandal gap, Ataxia, Tremor, Inability to walk, Overweight, Small hand, 2-3... OMIM:619229
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Spina bifida, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Optic atrophy,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Spina bifida, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Optic atrophy,... ORPHA:363958
Fucosidosis
Cervical platyspondyly, Lumbar hyperlordosis, Dystonia, Ovoid vertebral bodies, Anterior beaking ... OMIM:230000
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... ORPHA:261349
Desbuquois Dysplasia 2
Relative macrocephaly, Neonatal respiratory distress, Lumbar hyperlordosis, Short neck, Microceph... OMIM:615777
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
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Flexion contracture, Babinski sign, Tetrapare... OMIM:300232
Glossopharyngeal Neuralgia
Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Abnormal glossopharynge... ORPHA:221098
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Satoyoshi Syndrome
Microcephaly, Hyperlordosis ORPHA:3130
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Scoliosis OMIM:114300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, 2-5 finger syndactyly, Camptodactyly of finger, Olivopontocerebellar hypoplas... ORPHA:468631
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Microcephaly, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, P... OMIM:226980
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Gait disturbance, Myopathy, Microcephaly ORPHA:85329
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Optic nerve hypoplasia, Hyperlordosis, Recurrent aspiration pneumo... ORPHA:221139
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Becker Nevus Syndrome
Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc... ORPHA:64755
Frank-Ter Haar Syndrome
Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Clinodactyly of the... ORPHA:137834
Bruck Syndrome 1
Kyphosis, Elbow flexion contracture, Coxa vara, Vertebral wedging, Platyspondyly, Talipes equinov... OMIM:259450
Lathosterolosis
Abnormal thoracic spine morphology, Toe syndactyly, Postaxial hand polydactyly, Postaxial foot po... ORPHA:46059
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction, Microcephaly OMIM:612079
Mucopolysaccharidosis, Type X
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... OMIM:619698
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Pain insensitivity, Sandal gap, Single transverse palmar crease, Tapered finger... OMIM:617061
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis, Limb hy... ORPHA:90322
Laryngeal Abductor Paralysis
Vocal cord paralysis, Microcephaly OMIM:150260
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rocker bottom foot, Single transverse palmar crease, Postaxial poly... OMIM:617527
Chédiak-Higashi Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Tremor, Atrophy of the spi... ORPHA:167
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... ORPHA:3121
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Speech apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Pain ... OMIM:617330
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Dyspnea, Platyspondyly, Thoracic kyphos... OMIM:242900
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... OMIM:620278
Lateral Meningocele Syndrome
Vertebral fusion, Tethered cord, Short neck, Kyphosis, Dural ectasia, Chiari type I malformation,... OMIM:130720
Cono-Spondylar Dysplasia
Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphyses of the phalanges of... ORPHA:420794
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Hepatocellular necrosis, Death in childhood, Respiratory fa... OMIM:618278
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Ataxia, Short neck, Spastic paraplegia, Genu valgum, Clumsiness, Cortical thi... ORPHA:309282
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Microcephaly, Lumbar kyphosis, Hypoplasia of the corpus callosum OMIM:619234
Saethre-Chotzen Syndrome
Hyperlordosis, Optic atrophy, Abnormal form of the vertebral bodies, Blepharospasm, Scoliosis ORPHA:794
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones, Bilateral single transverse... ORPHA:3191
3Mc Syndrome
Hyperlordosis, Prominent coccyx, Scoliosis, Spina bifida occulta, Caudal appendage ORPHA:293843
Stiff Person Spectrum Disorder
Exaggerated startle response, Lumbar hyperlordosis ORPHA:3198
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... ORPHA:646
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Peho Syndrome
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral cortical atrophy, Tape... ORPHA:2836
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Sacral dimple, Unilateral vocal cord paralysis, Cerebral atrophy, Short middl... OMIM:301030
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Cerebral calcification, Pneumonia, Kyphoscoliosis, Increased intervertebral... OMIM:607944
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Short neck, Cerebral atrophy, Overlapping fingers, Failure to thrive, Adducte... OMIM:608779
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Periodic hypokale... ORPHA:37553
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Arachnodactyly, Cerebral atrophy, Camptodactyly, Spasticity, Failure to thrive OMIM:617729
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Microcephaly, Babinski sign, Cerebral atro... OMIM:615802
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Failure to thrive, Ataxia OMIM:201100
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Postaxial hand polydactyly, Oculomotor apraxia, Gai... ORPHA:1454
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hypertonia, Ataxia ORPHA:31
Congenital Myopathy 22A, Classic
Waddling gait, Scapular winging, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Congen... OMIM:620351
Micro Syndrome
Cerebellar vermis hypoplasia, Kyphosis, Abnormal cerebellum morphology, Scoliosis, Spasticity, Ce... ORPHA:2510
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Inability to walk,... ORPHA:464738
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Myofibrillar Myopathy 10
Elbow flexion contracture, Kyphosis, Flexion contracture of finger, Sandal gap OMIM:619040
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Chorea, Athetosis, Talipes equinovarus, Scoliosis, Apraxia, Spasticity OMIM:613454
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Chiari malformation, Ectrodactyly, Scoliosis, Bilateral sin... ORPHA:3378
Chromosome 10Q26 Deletion Syndrome
Microcephaly, Patent ductus arteriosus, Lumbar hyperlordosis, Short neck OMIM:609625
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai... ORPHA:3015
Kennedy Disease
Skeletal muscle atrophy, Gait disturbance ORPHA:481
9Q33.3Q34.11 Microdeletion Syndrome
Single transverse palmar crease, Spastic tetraparesis, Short neck, Inability to walk, Patellar ap... ORPHA:495818
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... OMIM:618019
Trisomy 20P
Finger syndactyly, Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Preaxial ha... ORPHA:261318
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Pontocerebellar Hypoplasia Type 10
Poor head control, Optic atrophy, Simplified gyral pattern, Hypertonia, Abnormal cerebral cortex ... ORPHA:411493
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Microcephaly, Periventricular white matter hyperintensi... OMIM:212720
Rift Valley Fever
Paralysis, Paraparesis, Thrombocytopenia, Hemiparesis, Anemia, Decerebrate rigidity, Muscle weakness ORPHA:319251
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait a... ORPHA:457359
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory... OMIM:615636
Opitz-Kaveggia Syndrome
Relative macrocephaly, Sacral dimple, Lumbar hyperlordosis, Short neck, Partial agenesis of the c... OMIM:305450
Stiff-Person Syndrome
Exaggerated startle response, Lumbar hyperlordosis, Opisthotonus OMIM:184850
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Arachnodactyly, Ataxia, Short hallux, Preaxial hand polydactyly, Sh... ORPHA:280
Crisponi Syndrome
Kyphosis, Hypertonia, Camptodactyly of finger, Scoliosis ORPHA:1545
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Ischemic stroke, Pulmona... ORPHA:1830
Refsum Disease
Skeletal muscle atrophy, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign ORPHA:773
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Spasticity ORPHA:485421
3C Syndrome
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Aplasia/Hypo... ORPHA:7
Harrod Syndrome
Arachnodactyly, Kyphosis, Scoliosis, Failure to thrive, Cerebral cortical atrophy ORPHA:2115
Sandifer Syndrome
Abnormal posturing, Torticollis, Decreased cervical spine mobility ORPHA:71272
Distal Triplication 15Q
Arachnodactyly, Large for gestational age, Kyphosis, Syringomyelia, Scoliosis, Camptodactyly, Dan... ORPHA:314588
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Cerebral calcification, Extramedullary hematopoiesis, Basal ganglia... OMIM:259730
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Recurrent pneumonia, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... OMIM:215150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Periventricular leukomalacia, Lumbar hyperlordosis, Optic nerve hypoplasia... ORPHA:500150
Holt-Oram Syndrome
Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Split hand, Aplasia/Hypopl... ORPHA:392
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Inability to walk, Global brain atrophy, Truncal ataxia OMIM:620066
Emanuel Syndrome
Sacral dimple, Torticollis, Kyphosis, Cerebral atrophy, Scoliosis, Failure to thrive, Dandy-Walke... OMIM:609029
Frontorhiny
Encephalocele, Pericallosal lipoma, Lumbar hyperlordosis, Aplasia/Hypoplasia of the corpus callos... ORPHA:391474
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
White-Sutton Syndrome
Cerebellar atrophy, Incoordination, Short neck, Hypoplasia of the pons, Obesity, Subcortical cere... ORPHA:468678
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Short lower limbs, Scoliosis OMIM:259440
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Proportionate shortening of all digits, Tapered finger, Short neck, Tremor, P... ORPHA:280633
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta, Muscle weakness, Proximal muscle weakness ORPHA:230839
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... OMIM:605373
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy OMIM:619835
Arthrogryposis, Distal, Type 5D
Hyperlordosis, Scoliosis, Short neck OMIM:615065
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
Dpagt1-Cdg
Arachnodactyly, Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Hype... ORPHA:86309
Trichorhinophalangeal Syndrome Type 1
Scoliosis, Hyperlordosis ORPHA:77258
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, Genu valgum, Scol... OMIM:618493
Cockayne Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Kyphosis, Inabi... ORPHA:191
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Pro... OMIM:254940
Camurati-Engelmann Disease
Waddling gait, Abnormal morphology of the radius, Metaphyseal dysplasia, Ataxia, Abnormal morphol... ORPHA:1328
Lipodystrophy, Congenital Generalized, Type 4
Spinal rigidity, Recurrent pneumonia, Scoliosis, Hyperlordosis OMIM:613327
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Multifocal hyperintensi... ORPHA:308552
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... ORPHA:2311
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia ORPHA:25
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Femoral retroversion, Micromelia, Kyphosis, Scoliosis ORPHA:79107
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Brachial plexus neuropathy, Spinal rigidity, Hyperlordosis ORPHA:268
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Abnormal metaphysis mo... ORPHA:2655
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Cerebral atrophy, Ivory epiphyses of the phalanges ... OMIM:216400
Trichothiodystrophy
Clubbing, Abnormal pyramidal sign, Gait ataxia, Hypertonia, Thoracic kyphosis, Intention tremor, ... ORPHA:33364
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Relative macrocephaly, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Platyspondyly... OMIM:271510
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Muscle weakness OMIM:615704
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... ORPHA:2916
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis ORPHA:2771
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Relative macrocephaly, Lumbar hyperlordosis, Microcephaly, Short neck, Macrocephaly ORPHA:251028
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis, Macrocep... ORPHA:3342
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness OMIM:615511
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Fasciculations, Muscle weakness ORPHA:2942
Riddle Syndrome
Pneumonia, Microcephaly, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, ... ORPHA:420741
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... OMIM:272460
Alpha-Mannosidosis
Kyphosis, Bowing of the long bones, Scoliosis, Short neck ORPHA:61
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Ulnar dev... OMIM:210730
Marshall-Smith Syndrome
Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Hypertonia, Thoracic kyphosis, Cer... OMIM:602535
X-Linked Intellectual Disability, Seemanova Type
Progressive spasticity, Skeletal muscle atrophy, Hypoplasia of the musculature, Microcephaly ORPHA:85323
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Boutonneuse Fever
Respiratory failure ORPHA:83313
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Proximal muscle weakness in lower limbs, Myositis, Skeletal muscle atrophy ORPHA:565899
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis, Microcephaly OMIM:170390
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... OMIM:253220
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Aganglionic megacolon, Hypoplasia of the odontoid process, Scoliosis, Narro... OMIM:250250
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Scoliosis, Spina bifida OMIM:161200
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertonia, Opisthotonus OMIM:616896
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Skeletal muscle atrophy, Microcephaly, Flexion contr... ORPHA:17
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Microcephaly, Hypoplasia of the pons, Patent ... OMIM:616975
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Oculomotor apraxia, Skeletal muscle atrophy OMIM:619759
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Tibial bowing, Irregular vertebral endplates, Short phalanx of finger, Bilateral sing... OMIM:143095
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Proximal placement of thumb OMIM:615433
Trisomy 9P
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino... ORPHA:236
Megalocornea-Intellectual Disability Syndrome
Ataxia, Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum ORPHA:2479
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Hepatosplenomegal... ORPHA:367
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Lumbar hyperlordosis, Choreoathetosis, Hemiballismus, Scoliosis, Dystonia, Hyperve... ORPHA:522077
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Short humerus, Exaggerated startle response, Short femur, Tapered finger, Hyp... OMIM:618367
Leprosy
Skeletal muscle atrophy, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, A... ORPHA:548
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck, Genu valgum ORPHA:2983
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Cranial nerve compression, Anemia, Optic nerve compressio... OMIM:131300
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Split hand, Hammertoe, Talipes equinovarus, Failure ... OMIM:261515
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, Brachydactyly ORPHA:93274
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral degeneration,... OMIM:230500
Renpenning Syndrome
Skeletal muscle atrophy, Microcephaly ORPHA:3242
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cerebral calcification, Microcephaly, Tachypnea, Cerebral atrophy, Respiratory insufficiency, Res... OMIM:613658
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Splenomegaly, Flexion contracture, Optic atrophy, Abnormal pyramidal ... ORPHA:581
Cowden Syndrome 1
Dysplastic gangliocytoma of the cerebellum, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Int... OMIM:158350
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy OMIM:619103
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Cerebellar hypoplasia, S... OMIM:300967
Combined Oxidative Phosphorylation Deficiency 55
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Microcephaly, Proximal muscle weak... OMIM:619743
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Neck flexor weakness, Foot dorsiflexor weakness, Abnormality of the tong... ORPHA:273
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Cerebral white matter atrophy, Ataxia, Knee flexion contracture ORPHA:435638
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Stickler Syndrome, Type I
Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Platyspondyly, Scoliosis, Morbus Scheuerma... OMIM:108300
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Aganglionic megacolon, Scoliosis, Hyperlordosis OMIM:162300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neonatal death, Spasticity, Failure to thrive OMIM:124000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Small hand, Short foot, Gait disturbance, Scoliosis, Failure to thrive ORPHA:500055
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cerebral atrophy, Skeletal muscle atrophy, Muscle weakness, Macrocephaly OMIM:614300
Myhre Syndrome
Vertebral fusion, Short neck, Microcephaly, Patent ductus arteriosus, Respiratory insufficiency, ... OMIM:139210
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis... ORPHA:1860
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Overlapping toe, Proximal placement of thumb, Tapered finger, Scoliosis, Camp... ORPHA:487796
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Broad skull, Patent ductus arteriosus, Spinal canal stenosis, Scoliosis OMIM:277600
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Dandy-Walker malformation, Cerebellar vermis atrophy, Short neck OMIM:156610
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Single transverse palmar crease, Clonus, Abnormal curvature of the vertebral column, H... OMIM:619475
Mgat2-Cdg
Kyphosis, Cerebellar hypoplasia, Scoliosis, Brain atrophy, Failure to thrive, Brachydactyly ORPHA:79329
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesity OMIM:614947
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Kyphosis, Abnormality of the elbow, Vertebral segmentation defect, Short middl... ORPHA:1005
Neu-Laxova Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Cerebral calcific... ORPHA:2671
Congenital Disorder Of Glycosylation, Type Iio
Splenomegaly, Skeletal muscle atrophy, Hepatosplenomegaly OMIM:616828
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures ORPHA:2028
Prader-Willi Syndrome
Syndactyly, Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Acromicria, Small ha... OMIM:176270
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Muscle weakness OMIM:608390
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy OMIM:620133
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Kyphoscoliosis, Short neck, Microcephaly, Hemivertebrae, Spinal dysraphism, Restrict... ORPHA:96334
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Cerebral atrophy, Tetraplegia, W... OMIM:615846
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Megalencephaly, Thick corpus callosum, Knee flexion contracture, Hypopla... OMIM:603387
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Upper limb undergrowth, Obesity, Scoliosis, Global brain atrophy ORPHA:369837
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis ORPHA:3253
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Cerebral calcification, Facial palsy, Microcephaly, Aplasia of the pecto... ORPHA:1358
Gitelman Syndrome
Cerebral calcification, Paralysis, Rhabdomyolysis, Iron deficiency anemia, Paresthesia, Muscle we... ORPHA:358
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly, Obesity ORPHA:261222
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Short neck, Kyphosis, Split hand, Hypoplasia of the ra... ORPHA:958
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, Hemivertebrae, Cerebral atrophy, Spasticity... OMIM:301040
Sézary Syndrome
Tremor, Skeletal muscle atrophy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Ischemic stroke, Mu... ORPHA:1344
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... OMIM:619636
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Spastic paraplegia OMIM:105300
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Kyph... ORPHA:193
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, Kyphosis, 2-3 toe syndactyly, Cerebral atrophy, Scoliosis, Spast... OMIM:616449
Vici Syndrome
Failure to thrive, Abnormal posturing, Cerebellar vermis hypoplasia OMIM:242840
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... ORPHA:349
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Hemolytic anemia, Muscle weakness, Paralysis ORPHA:18
Alg9-Cdg
Cerebellar atrophy, Lower limb spasticity, Torticollis, Ulnar deviation of the hand, Rhizomelia, ... ORPHA:79328
Nijmegen Breakage Syndrome
Microcephaly, Short neck, Recurrent pneumonia, Abnormality of neuronal migration, Respiratory fai... ORPHA:647
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Microcephaly ORPHA:1439
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness, Hepatosplenomegaly OMIM:232500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ... OMIM:619951
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Progressive spastic paraplegia ORPHA:2821
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Abnormal metaphysis morphology, Failur... ORPHA:583
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis ORPHA:2848
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Kyphosis, Polydactyly, ... ORPHA:464306
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... ORPHA:2215
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Abnormal skeletal muscle morphology ORPHA:142
Hajdu-Cheney Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short neck, Hypopl... ORPHA:955
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal pha... ORPHA:404440
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Short neck, Hyperlordosis, Microcephaly, Scoliosis, Dystonia OMIM:619950
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Thoracolumbar scoliosis, Short neck, Kyphosis, Pa... OMIM:265000
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... ORPHA:2062
Shashi-Pena Syndrome
Short metacarpal, Kyphosis, Deep palmar crease, Scoliosis, Cervical C2/C3 vertebral fusion, Limb ... OMIM:617190
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Split hand, Neurodegeneration, Cervical cord compression OMIM:309900
Trisomy 17P
Skeletal muscle atrophy, Microcephaly, Flexion contracture, Macroglossia, Hypertonia ORPHA:261290
Costello Syndrome
Short neck, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Cerebral atrophy, Vestibular ... OMIM:218040
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Facial palsy, Scoliosis, Hyperlordosis OMIM:615873
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephal... ORPHA:2556
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Tapered finger, Kyphosis, Short toe, Short foot, Ga... ORPHA:464311
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Hyperto... OMIM:300960
Cockayne Syndrome Type 3
Optic disc pallor, Cerebral white matter atrophy, Skeletal muscle atrophy, Peripheral axonal neur... ORPHA:90324
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... OMIM:618050
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Hand po... ORPHA:401973
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Kyphosis OMIM:609008
Pineoblastoma
Papilledema, Midline brain calcifications, Paralysis ORPHA:251909
Distal 22Q11.2 Microdeletion Syndrome
Microcephaly, Hyperlordosis ORPHA:261330
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Listeriosis
Back pain, Respiratory distress, Miscarriage, Pneumonia, Tremor, Respiratory failure ORPHA:533
Monosomy 9Q22.3
Short neck, Palmar pits, Kyphosis, Large for gestational age, Abnormality of the vertebral column... ORPHA:77301
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for... ORPHA:666
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Small for gestational age, Tremor, Kyphosis, Cerebral atrophy,... OMIM:133540
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Fatigable weakne... ORPHA:284339
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Phalangeal dislocat... ORPHA:536532
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Sacral dimple, Overlapping toe, Failure to thrive, ... OMIM:270400
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Macrocephaly, Microcephaly ORPHA:127
Cowden Syndrome
Ataxia, Kyphosis, Abnormal cerebellum morphology, Palmoplantar keratoderma, Scoliosis, Failure to... ORPHA:201
Malignant Atrophic Papulosis
Pleural effusion, Ischemic stroke, Respiratory failure ORPHA:679
Hurler Syndrome
Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap... OMIM:607014
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Cerebral atrophy, Death in childhood OMIM:618252
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Decreased head circumference, Respiratory failure, Rhin... ORPHA:125
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Hypotrophy of the small han... OMIM:610443
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Flexion contracture, Macrocephaly ORPHA:75496
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Tapered finger, Syringomyelia, Spasticity, Cerebral cortical atrophy,... OMIM:615803
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:2614
Knobloch Syndrome 1
Cerebellar atrophy, Spina bifida occulta, Ataxia, Cerebral atrophy OMIM:267750
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Kyphosis, Small hand, Increased body weight, Short foot, Abdomina... ORPHA:398069
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Myoclonus OMIM:258850
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Turnpenny-Fry Syndrome
Relative macrocephaly, Thoracic kyphoscoliosis, Torticollis, Cerebellar vermis hypoplasia, Lumbar... OMIM:618371
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, F... OMIM:617602
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thr... ORPHA:268261
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Broad skull, Patent ductus arteriosus, Spinal canal stenosis, Scoliosis OMIM:608328
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... ORPHA:1724
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, Abnormal form of the vert... ORPHA:2461
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... ORPHA:2911
Farber Disease
Skeletal muscle atrophy, Paraparesis, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, ... ORPHA:333
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Macrocephaly, Hyperlordosis OMIM:301066
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Spina bifida, Short neck, Hydrocephalus, Respiratory insufficiency, Platyspondyly... OMIM:304120
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Bowing of the legs, Kyphosis, Chorea, Platyspondyly, Limb undergrowth, Spa... ORPHA:1855
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Long fingers, Kyphosis... OMIM:616914
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Tibial bowing OMIM:259420
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Involuntary movements, Kyphoscoliosis, Kyphosis, Inability to walk, Uns... ORPHA:3063
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly ORPHA:2554
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism OMIM:617660
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hemiplegia/hemiparesis ORPHA:156
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the abdomin... ORPHA:2990
Cowden Syndrome 5
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Intention tremor OMIM:615108
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Myopathy, Limb mu... OMIM:112250
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Williams Syndrome
Death in early adulthood, Sacral dimple, Hyperlordosis, Atrophy/Degeneration involving the cortic... ORPHA:904
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Congenital Myopathy 13
Skeletal muscle atrophy, Microcephaly, Proximal muscle weakness, Gowers sign, Fatty replacement o... OMIM:255995
7Q31 Microdeletion Syndrome
Speech apraxia, Skeletal muscle atrophy, Torticollis, Hypoplasia of the olfactory bulb, Macrocephaly ORPHA:251061
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Corpus callosum atrophy, Kyphosis, Cerebral atrophy OMIM:619244
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Microcephaly,... ORPHA:2636
Abetalipoproteinemia
Respiratory failure, Kyphoscoliosis ORPHA:14
Monosomy 22Q13.3
Sacral dimple, Impaired pain sensation, Obesity, Large hands, Clinodactyly of the 5th finger, Cer... ORPHA:48652
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Aganglionic megacolon, Ganglioneuromatosis, Hyperlordosis ORPHA:653
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Short neck, Kyphosis, Fibular hypop... ORPHA:140
Cowden Syndrome 6
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Intention tremor OMIM:615109
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Cerebral calcification, Eosinophilia, Megaloblastic anemia... ORPHA:90045
Shprintzen Omphalocele Syndrome
Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis OMIM:182210
Native American Myopathy
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital... ORPHA:168572
Acrocapitofemoral Dysplasia
Relative macrocephaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Cole-Carpenter Syndrome
Bowing of the long bones, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal me... ORPHA:2050
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Atelis Syndrome 2
Sacral dimple, Single transverse palmar crease, Kyphosis, Dysmetria, Clinodactyly OMIM:620185
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphalangeal joint o... OMIM:607015
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Sacral dimple, Neonatal respiratory distress, Apnea, Thoracolumbar sc... OMIM:619503
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis, Microcephaly ORPHA:2232
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... ORPHA:1507
Noonan Syndrome 14
Scapular winging, Short neck, Kyphosis, Deep palmar crease, Cubitus valgus, Clinodactyly, Limited... OMIM:619745
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ... ORPHA:818
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Kyphoscoliosis, Hyperlordosis, Hydrocephalus, Scoliosis, Macrocephaly, Hypoplasia of t... ORPHA:363700
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Basal ganglia calcification, Sple... OMIM:619183
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:96169
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Leukopenia, Thrombocytosis, Lymphopenia, Anemia OMIM:615934
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Recon Progeroid Syndrome
Skeletal muscle atrophy, Thrombocytopenia, Anemia, Microcephaly OMIM:620370
Alstrom Syndrome
Kyphosis, Scoliosis, Truncal obesity, Abnormality of the hand OMIM:203800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Genitopalatocardiac Syndrome
Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly ORPHA:2075
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido... ORPHA:79404
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyly, Clinodactyl... OMIM:616894
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Proximal muscle weakness, Splenomegaly, Leukocytosis, Muscle weakness, A... OMIM:615895
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, Kyphosis, Cone-shaped epiphyses of the phalanges of the h... OMIM:119600
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Bowing of the long bones, Kyphosis, Lateral femoral bowing, Failure to thrive OMIM:239000
Fraser Syndrome 2
Respiratory failure, Short neck OMIM:617666
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femoral bowing, P... OMIM:610915
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy ORPHA:1486
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Metatarsus ad... OMIM:249420
Holoprosencephaly 14
Cerebellar atrophy, Partial absence of cerebellar vermis, Dandy-Walker malformation OMIM:619895
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Genu varum ORPHA:1969
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Thrombocytopeni... ORPHA:3260
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Tuberous Sclerosis Complex
Respiratory distress, Cortical dysplasia, Noncommunicating hydrocephalus, Respiratory failure, Co... ORPHA:805
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Poor head control, Myopathy, Type 1 muscle fiber predomin... OMIM:614557
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Kyphosis, Increased femoral anteversion, Scoliosis, Decreased body weight OMIM:619005
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Tethered cord, Pseudoepiphyses of the metacarpals, Single transv... OMIM:194190
Zttk Syndrome
Kyphosis, Small hand, Hemivertebrae, Short foot, Cerebellar hypoplasia, Scoliosis, Spasticity, Fa... OMIM:617140
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormality of the hand, Kyphosis, Subcortical cerebral atrophy, Abnorma... ORPHA:2273
Sponastrime Dysplasia
Relative macrocephaly, Lumbar hyperlordosis, Kyphoscoliosis, Recurrent pneumonia, Hyperconvex ver... ORPHA:93357
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Microcephaly, Flexion contracture, Optic atrophy, Poor coordination, Cer... OMIM:309590
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Dystonia, Babinski sign, Hemiparesis, Tetraparesis, Limb dystonia, Hemiplegia... OMIM:175780
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Tyrosinemia, Type I
Splenomegaly, Anemia, Periodic paralysis OMIM:276700
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Abdominal wall muscle weakness, Myopathy, Macrocephaly, Muscle weakness ORPHA:109
Duane Retraction Syndrome
Skeletal muscle atrophy, Microcephaly, Blepharospasm, Camptodactyly, Oculomotor nerve palsy, Spin... ORPHA:233
Coffin-Siris Syndrome 1
Sacral dimple, Sandal gap, Single transverse palmar crease, Aplasia/Hypoplasia of the patella, Ap... OMIM:135900
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Optic atrophy, Joint cont... ORPHA:324540
Mucolipidosis Type Ii
Limited wrist movement, Inability to walk, Kyphosis, Weight loss, Talipes equinovarus, Decreased ... ORPHA:576
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis, Proximal placement of thumb ORPHA:261250
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Obesity, Short ... ORPHA:1606
Schinzel-Giedion Syndrome
Myeloid leukemia, Aganglionic megacolon, Vocal cord paralysis, Macroglossia, Hypertonia, Hypoplas... ORPHA:798
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Kyphosis, Elbow flexion contracture, Genu valgum, Hypertonia, Broad distal phalanx of... OMIM:619194
Moebius Syndrome
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Aplasia of the pectoralis major muscle, A... ORPHA:570
Osteogenesis Imperfecta, Type Iv
Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae... OMIM:166220
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Cerebral palsy, Opisthotonus OMIM:210210
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Microcephaly OMIM:113620
Familial Osteodysplasia, Anderson Type
Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Bifid femur, Aplasia/hypoplas... ORPHA:2769
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Absence of the sacrum, Cerebellar hypoplasia, Cerebral atrophy OMIM:270100
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Thrombocytopenia, Splenomegaly, Leukopenia, Muscle weakness, Hemophagocy... OMIM:222700
Marfan Syndrome
Arachnodactyly, Limited elbow movement, Cachexia, Kyphosis, Dural ectasia, Scoliosis, Slender bui... ORPHA:558
Degcags Syndrome
Pancytopenia, Congenital hypoplastic anemia, Microcephaly, Vocal cord paralysis, Hepatosplenomega... OMIM:619488
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy OMIM:614856
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
Donohue Syndrome
Skeletal muscle atrophy OMIM:246200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cerebellar cortical atrophy, Abdominal obesity, Genu valgum OMIM:619321
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... OMIM:259770
Tsh-Secreting Pituitary Adenoma
Oculomotor nerve palsy, Internal ophthalmoplegia, Periodic hypokalemic paresis, Tremor ORPHA:91347
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Microcephaly, Camptodactyly, Arthrogryposis multiplex congenita, Joint c... OMIM:601701
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h... OMIM:614162
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Anterior concavity of thoracic ver... OMIM:216340
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Clinodactyly, Radial deviation of finger OMIM:609944
Feingold Syndrome 1
Accessory spleen, Microcephaly, Asplenia, Vocal cord paralysis, Polysplenia OMIM:164280
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Abnormal metacarpal morphology, Kyphosis, Abnormal finger morphology, Symphala... ORPHA:2658
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Coxa valga, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Classic Homocystinuria
Arachnodactyly, Hemiplegia/hemiparesis, Kyphosis, Genu valgum, Scoliosis ORPHA:394
Werner Syndrome
Skeletal muscle atrophy ORPHA:902
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Elbow flexion contracture OMIM:616200
Stickler Syndrome
Arachnodactyly, Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form ... ORPHA:828
Acromegaly
Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Large hands, Deep ... ORPHA:963
Somatomammotropinoma
Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Large hands, Deep ... ORPHA:314769
Ulbright-Hodes Syndrome
Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failure ORPHA:3404
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... ORPHA:3042
Bardet-Biedl Syndrome
Skeletal muscle atrophy ORPHA:110
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Single transverse palmar crease, Taper... OMIM:303600
Codas Syndrome
Broad skull, Vocal cord paresis, Hypoplasia of the corpus callosum OMIM:600373
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Kyphosis, Spina bifida ORPHA:1393
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Aspartylglucosaminuria
Kyphosis, Cerebral atrophy, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verte... OMIM:208400
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Difficulty walking, Myopathy, Muscle weakness ORPHA:536545
Neurofibromatosis Type 1
Ataxia, Kyphosis, Genu valgum, Paresthesia, Scoliosis, Genu varum ORPHA:636
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:99413
Mosaic Monosomy X
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:99228
Monosomy X
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:99226
Turner Syndrome
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:881
Oculocerebrorenal Syndrome Of Lowe
Clonus, Kyphosis, Genu valgum, Platyspondyly, Scoliosis, Abnormal metaphysis morphology, Failure ... ORPHA:534
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Scoliosis OMIM:619482
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Microcytic anemia, Basal ganglia calcification,... OMIM:256040
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hyperlordosis ORPHA:73223
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Sotos Syndrome
Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Tremor, Kyphosis, Bilateral camptodactyly,... ORPHA:821
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Anemia ORPHA:89842
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Cerebral calcification, Ataxia, Flexion contracture, Kn... OMIM:259050
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Wrist swelling, Kyphosis, Genu valgum, Finger swellin... OMIM:309000
Occipital Horn Syndrome
Short humerus, Coxa valga, Capitate-hamate fusion, Kyphosis, Genu valgum, Platyspondyly, Limited ... OMIM:304150
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Cachexia, Metatarsus valgus, Kyphosis, Abnormal f... ORPHA:744
17Q11 Microdeletion Syndrome
Abnormal central motor function, Bowing of the legs, Kyphosis, Dural ectasia, Diaphyseal dysplasi... ORPHA:97685
Cdags Syndrome
Kyphosis OMIM:603116
Ramon Syndrome
Kyphosis, Scoliosis, Decreased body weight OMIM:266270
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy ORPHA:71505
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Aganglionic megacolon, Kyphoscoliosis, Microcephaly, Optic disc coloboma, S... OMIM:309800
Wrinkly Skin Syndrome
Scapular winging, Kyphosis, Coxa vara, Deep palmar crease, Talipes equinovarus, Scoliosis, Palmop... OMIM:278250
Esophageal Atresia
Vocal cord paresis, Hypertonia ORPHA:1199
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Tarsal synostosis ORPHA:85199
Williams-Beuren Syndrome
Incoordination, Poor coordination, Flexion contracture, Vocal cord paralysis, Cerebellar hypoplas... OMIM:194050
Cystinosis, Nephropathic
Skeletal muscle atrophy, Cerebral calcification, Splenomegaly, Cerebral atrophy, Myopathy OMIM:219800
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Pierson Syndrome
Skeletal muscle atrophy, Progressive microcephaly, Microcephaly OMIM:609049
Viss Syndrome
Long toe, Arachnodactyly, Rocker bottom foot, Kyphosis, Genu valgum, Talipes equinovarus, Scolios... OMIM:619472
Leprechaunism
Skeletal muscle atrophy, Microcephaly ORPHA:508
Atypical Werner Syndrome
Calf muscle hypertrophy, Abnormality of the Achilles tendon, Skeletal muscle atrophy ORPHA:79474
Alström Syndrome
Thoracic scoliosis, Incoordination, Ataxia, Somatic sensory dysfunction, Kyphosis, Short toe, Obe... ORPHA:64

Histopathology

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

There is no histopathology data for Clp1

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 Clp1.

No publications found that use IMPC mice or data for Clp1.

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
Clp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clp1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Clp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Clp1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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