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Gene: Mdga2 MGI:2444706

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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:
MAM domain containing glycosylphosphatidylinositol anchor 2
Synonyms:
6720489L24Rik,  Mamdc1,  Mdga2,  9330209L04Rik,  Adp

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 Mdga2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mdga2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... OMIM:253400
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... OMIM:614436
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
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, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... OMIM:302800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... ORPHA:90103
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Inability t... ORPHA:482601
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... OMIM:613954
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Babinski sign, Distal sensory impai... OMIM:615043
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Generalized amyotrophy, Loss of ambulation, Scapular winging, Lumbar hyperlordosis, Fa... OMIM:167320
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... ORPHA:300605
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Proximal muscle weakness, Cent... OMIM:271150
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of periphe... ORPHA:65684
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Clonus, Microcytic anemia, Proximal muscle weakness,... OMIM:618811
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... ORPHA:99947
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn... OMIM:614373
Spastic Paraplegia 38, Autosomal Dominant
Lower limb spasticity, Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Spa... OMIM:612335
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... ORPHA:45448
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... OMIM:620285
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Inabili... ORPHA:2596
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:605285
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Opti... OMIM:615658
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:600361
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Hypotonia, Limb ataxia, Hand tremor, Degeneration of anterior ho... OMIM:607596
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia OMIM:300857
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Inability to walk, Kyphosis, Babinski sign, Spast... OMIM:611225
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, EEG with persistent abnormal rhythmic activity, Gait ata... ORPHA:282166
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Babinski sign, Spastic paraplegia, Impaired di... OMIM:616282
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Progressive external ophthalmoplegia, Peripheral axonal degeneration, Dystoni... OMIM:208920
Spastic Paraplegia 62, Autosomal Recessive
Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Babinski sign, Tip-to... OMIM:615681
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne... OMIM:612577
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Short metacarpal, Ataxia, Coxa valga, Centrally nucl... OMIM:248800
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo... OMIM:608030
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion con... OMIM:611105
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Distal muscle weakness, Hyperlordosis, Proximal mus... ORPHA:52430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... ORPHA:435387
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Somatic sensory dysfunction, Distal muscle weakness, Babinski sign, Spas... ORPHA:357043
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Hand muscle weakness, ... OMIM:616280
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn... OMIM:616155
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... ORPHA:101097
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Autosomal Recessive Spastic Paraplegia Type 62
Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Knee flexion contract... ORPHA:401785
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Small for gestational age, Camptodactyly ... OMIM:604320
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Flexion contracture, Steppage gai... OMIM:607684
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Distal muscle weakness, Ankle flexion contracture, Babinski sign, K... ORPHA:320370
Oculopharyngodistal Myopathy
Loss of ambulation, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weak... ORPHA:98897
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal muscle weakness, Babinski sign, Upper limb muscle weakness, Hammertoe, Hypertonia, Distal ... OMIM:182960
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... ORPHA:276244
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Hypotonia, Degenera... ORPHA:2254
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, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Respiratory insufficie... OMIM:617087
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai... ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropat... OMIM:616668
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneratio... OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... OMIM:620068
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616437
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Proximal muscle weakness, Babinski sign, Ragged-red muscle fibers, Hypotoni... OMIM:500002
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Clonus, Spastic paraplegia, Scissor gait, Babinski sign, Hypertonia, Gai... OMIM:615686
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Respiratory insufficiency due to m... OMIM:618276
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity OMIM:611895
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Severe muscular hypotonia, Facial palsy, Spinal muscular atrophy, Re... OMIM:301830
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy,... OMIM:617018
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... OMIM:620249
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness OMIM:614808
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Proximal muscle weakne... OMIM:607706
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
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... ORPHA:497764
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... ORPHA:488594
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
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w... OMIM:612069
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Arts Syndrome
Ataxia, Progressive muscle weakness, Optic atrophy, Tetraplegia, Spinal cord posterior columns my... OMIM:301835
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Distal muscle weakness, Spinal muscular at... OMIM:611067
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Onion bulb formation, Peripheral axonal neuropathy, Tibialis anterior musc... OMIM:615035
Spastic Paraplegia 31, Autosomal Dominant
Lower limb spasticity, Skeletal muscle atrophy, Spastic paraplegia, Babinski sign, Distal sensory... OMIM:610250
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:601472
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... OMIM:312920
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Loss of ambulation, Muscle ... OMIM:613435
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal muscle weakness, Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Abnorm... OMIM:300489
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Genu recurvatu... OMIM:604168
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal muscle weakness, Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased ... OMIM:618279
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... OMIM:617892
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Distal muscle weakness, Postura... OMIM:270685
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Impaired distal vibration sen... ORPHA:276435
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Hypsarrhythmia, G... ORPHA:204
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal muscle weakness, Distal sensory impairment, Hammertoe, Steppage gait, Gait disturbance, Di... OMIM:616625
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... ORPHA:59135
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait, Muscle weakness OMIM:612539
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Ankle w... OMIM:118300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations OMIM:619141
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Decreased nerve... ORPHA:101078
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca... OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Impaired distal proprioception, Abnormal pyramidal sig... OMIM:616688
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot... OMIM:182980
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Torticollis, Ax... OMIM:607317
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Distal muscle weakness, Spinal muscular atrophy, Distal sensory imp... OMIM:614881
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Gowers sign, Axial muscle weakness, Knee flexion contracture, Steppage gait, Lower limb muscle we... OMIM:615290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... OMIM:157640
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... ORPHA:101075
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... ORPHA:100985
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in ce... OMIM:600795
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Limited wrist extension, Progressive muscle weakness, Weaknes... ORPHA:641
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... ORPHA:101085
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Unsteady gait, Babinski sign, Limb ataxi... ORPHA:1175
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... ORPHA:169186
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... ORPHA:309169
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Tremor, Progressive muscle weakness, Generalized hypo... OMIM:615512
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal muscle weakness, Impaired distal vibration sensation, Distal amyotrophy, Steppage gait, Fo... OMIM:618036
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin... OMIM:158600
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morp... OMIM:611890
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
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 Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity ORPHA:401805
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... ORPHA:206594
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Proximal muscle weakness, Low... OMIM:615575
Desminopathy
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... ORPHA:98909
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, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, P... ORPHA:99950
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Kypho... ORPHA:101081
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Hype... OMIM:611588
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Steppage gait, Tongue fasciculations, Foot dorsiflexor... OMIM:145900
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Muscle weakness, Gait ataxia ORPHA:401953
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Failure to thrive in ... ORPHA:254875
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, D... OMIM:615376
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal muscle weakness, Hand muscle weakness, Distal s... OMIM:608323
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif... ORPHA:423296
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... ORPHA:610
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hy... ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Dysmetr... OMIM:618387
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Hypotonia, Impair... OMIM:619216
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Gowers sign, Quadriceps muscle weakness, Type 1 muscle fiber predominanc... OMIM:620389
Huntington Disease-Like 2
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst... ORPHA:98934
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi... OMIM:615911
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:171863
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... OMIM:606777
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia, Scoliosis OMIM:213000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping OMIM:614369
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Gower... ORPHA:254361
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Distal amyotrophy... ORPHA:468661
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... ORPHA:98896
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:610100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:600794
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakne... OMIM:614409
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Waddling gait, Decreased number of peripheral myelinat... OMIM:609311
Spinocerebellar Ataxia 18
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... OMIM:607458
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... OMIM:608673
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of... ORPHA:370980
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness OMIM:205250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Pachygyria, Vertebral fusion, Facial palsy, Hyperlord... OMIM:606612
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... ORPHA:99953
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion co... OMIM:609285
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Axial hypotonia, Ataxia, Proximal muscle weakness, Progr... OMIM:620166
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... ORPHA:178400
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, C... ORPHA:100989
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Degeneration of the lateral c... ORPHA:171617
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... OMIM:616907
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Optic atrophy, Hypotonia, Spasticity, Failure ... ORPHA:772
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:100999
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... OMIM:608634
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Distal muscle weakness, Decreased distal sensory nerve action poten... OMIM:618400
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... ORPHA:275864
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Dysequilibrium Syndrome
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Hypotonia, Gait disturbance ORPHA:1766
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Infantile axial hypotonia, Tremor,... ORPHA:521406
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Pseudoachondroplasia
Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Increased laxity of ankles... ORPHA:750
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency d... OMIM:610687
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... OMIM:302801
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... OMIM:615957
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... ORPHA:71277
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:613287
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... OMIM:270800
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Onion bulb formation, Skeletal muscle atrophy, Decreased nerve conduction velocity, O... OMIM:615284
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Generalized amyotro... ORPHA:401820
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Clinodactyly of the 5th finger, Short nose ORPHA:217340
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Peripheral axonal neuropathy, Severe musc... OMIM:617519
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Cerebellar gliosis, Flexion contracture, Dysmetria, Gait ataxia, Steppage gait, Hypertoni... OMIM:616505
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Recurrent patellar dislocation, Capitate-hamate fusion, Short... OMIM:614078
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Respiratory insufficiency due to muscle we... ORPHA:2590
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosi... ORPHA:496689
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal femur morpholog... ORPHA:909
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Spinocerebellar Ataxia Type 2
Postural tremor, Abnormal cortical gyration, Parkinsonism, Kinetic tremor, Chorea, Cerebellar Pur... ORPHA:98756
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spastic Paraplegia 45, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Optic atrophy,... OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607731
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... ORPHA:94124
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Distal muscle weakness, Ataxia, Proximal muscle weakness, Gowers sign, Babinski si... OMIM:617882
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu... OMIM:605726
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract... ORPHA:139399
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607677
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... ORPHA:352675
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:171612
Myopathy, Myofibrillar, 6
Thoracic scoliosis, Distal muscle weakness, Scapular winging, Facial palsy, Spinal rigidity, Prox... OMIM:612954
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Distal muscle weakness, Peripheral axonal neuropathy, Proximal muscl... ORPHA:99939
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Gowers sign, Amyoplasia, Scapular w... OMIM:181405
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairme... OMIM:302802
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle wea... OMIM:617404
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares ORPHA:1450
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Progressive muscle we... OMIM:607426
Spastic Ataxia 9, Autosomal Recessive
Distal muscle weakness, Ataxia, Axial hypotonia, Impaired distal vibration sensation, Hoffmann si... OMIM:618438
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Hypotonia, Cerebral atrophy, Knee flexion... OMIM:616286
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Progressive proximal muscle weakness, Truncal ataxia, Cerebral atrophy, Myopathy, Hyperki... ORPHA:369847
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisi... ORPHA:330050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... ORPHA:1529
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, ... OMIM:618124
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Internally nucleated skele... ORPHA:178464
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Parkinsonism, F... ORPHA:1320
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
Riboflavin Transporter Deficiency
Optic disc pallor, Bulbar palsy, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor,... ORPHA:97229
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe... OMIM:619686
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... ORPHA:90117
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... OMIM:615157
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Kyphosis, Unsteady gait, Abnormal p... OMIM:617435
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Pseudobulbar paralysis, Gait distu... ORPHA:101006
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal... ORPHA:969
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Distal muscle weakness, Impaired pain sensation, Tremor, Splenomegaly, L... OMIM:616719
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at... OMIM:604360
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger OMIM:155050
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Impaired vibration sensation ... OMIM:270550
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... OMIM:162100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hyperlordosis, Pr... OMIM:600462
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, External ophthalmoplegia, Tremor, Unsteady gait, Babinski sign, Limb ataxia, ... OMIM:615768
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... OMIM:620323
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul... ORPHA:599373
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Cerebral a... OMIM:617916
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
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Rigidity, Babi... ORPHA:100984
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Generalized hypotonia, Abnor... ORPHA:98755
Rigid Spine Syndrome
Waddling gait, Hip contracture, Poor head control, Skeletal muscle atrophy, Hyperlordosis, Spinal... ORPHA:97244
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Proximal muscle weakness, Deg... ORPHA:320355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... OMIM:254110
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal... OMIM:601455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal muscle weakness, Axonal degeneration/regeneration, Segmental peripheral demyelination/remy... OMIM:606483
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypotonia, Simplified gyral pattern OMIM:613402
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy, Generalized hypo... OMIM:619099
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Dysmetria, Chronic axonal neuropathy, Lower limb muscle weakness, Impair... ORPHA:88644
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Neurodege... OMIM:615643
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Opti... OMIM:609541
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Distal muscle weakness, Congenital muscular torticollis, Ca... OMIM:158810
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... ORPHA:216873
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Limitation of movement at ankles, Skeletal m... ORPHA:100988
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Respiratory ... ORPHA:329336
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Spastic paraplegia, Gait disturbance, Talipes equinovarus, Spasticity OMIM:615683
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Total ophthalmoplegia, EEG abnormality, Abnormal muscle ... ORPHA:3095
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Abnormal pyramidal sign, Dysmetr... ORPHA:48431
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Broad-based gait, Di... OMIM:609033
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Proximal lower limb amyotrophy, Distal muscle weak... OMIM:600175
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decr... OMIM:607250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... ORPHA:2370
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal... OMIM:605820
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Flexion contracture, Abnormal pyramidal sign, Choreoathetosis, Decreased... ORPHA:59
Developmental And Epileptic Encephalopathy 97
Poor head control, Tremor, Inability to walk, Hypotonia, Hypsarrhythmia OMIM:619561
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:607678
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Impaired pain sensation, Impaired temperature sensation, ... OMIM:619574
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Poor head control, Dystonia, Ataxia, Increased ne... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Distal muscle weakn... OMIM:614298
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Huntington Disease
Caudate atrophy, Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Ge... ORPHA:399
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Scoliosis, Dystonia, Spasticity,... OMIM:500001
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Incoordination, Limb... ORPHA:309162
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Severe muscular hypotonia, Spinal rigidity, Kyphosis, Decreased compound muscl... OMIM:618323
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Dystonia, Atax... OMIM:609195
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Short palm, Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Small hand,... OMIM:610185
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Unsteady gait, A... ORPHA:98
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Scoliosis, Loss of ambul... OMIM:619518
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas... OMIM:183050
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere... ORPHA:306692
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Inability to walk, Hypotonia, Astrocytosis, Generalized hypotonia, Difficulty w... OMIM:611087
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, EEG abnormality, Axonal loss, Gait disturbance,... OMIM:221770
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Distal muscle weakness, Thoracolumbar scoliosis, F... OMIM:255600
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Limb ataxia, Dysmetria... OMIM:610743
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly ORPHA:221054
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Machado-Joseph Disease
Gliosis, Impaired vibratory sensation, Ataxia, Parkinsonism, External ophthalmoplegia, Distal amy... OMIM:109150
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Proximal muscle weakness, External op... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes... OMIM:616924
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... ORPHA:2831
Machado-Joseph Disease Type 1
Cerebellar atrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Substantia nig... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Substantia nig... ORPHA:276241
Gemignani Syndrome
Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Impaired pain sensation ORPHA:2074
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Distal muscle weakness, Corp... OMIM:601162
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory... OMIM:255200
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... OMIM:608340
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Spasticity, Gait ata... ORPHA:466794
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Limb ataxia, Gait ataxia, Dysmetria, Gl... OMIM:213200
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
Combined Oxidative Phosphorylation Deficiency 45
Axial hypotonia, Ataxia, Short neck, Tremor, Failure to thrive, Muscle weakness OMIM:618951
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Sco... OMIM:618239
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
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Optic atrophy, Hypotonia, Clumsin... OMIM:614707
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Hypotonia, Scoliosis, Cereb... ORPHA:1188
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... OMIM:617225
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... ORPHA:2589
Rhiny
Short nose, Anteverted nares OMIM:180360
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Cer... ORPHA:33445
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... OMIM:618618
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Paresthesia, Fasciculations, Muscle weakness ORPHA:85162
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Congenital Muscular Dystrophy, Ullrich Type
Short neck, Flexion contracture, Knee flexion contracture, Generalized amyotrophy, Generalized hy... ORPHA:75840
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Hypotonia, Distal sensory impairment, Facial diplegia,... OMIM:616287
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Axial hypotonia, Delayed peripheral myeli... ORPHA:464282
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:100993
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Unstead... OMIM:615919
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Vocal cord paralysis, Tongue fasciculations, Bulbar... OMIM:211530
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... ORPHA:500180
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inabili... ORPHA:258
Non-Specific Early-Onset Epileptic Encephalopathy
Poor head control, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, ... ORPHA:442835
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, S... ORPHA:100986
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Facial palsy,... OMIM:128100
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... OMIM:216100
Pseudoachondroplasia
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... OMIM:177170
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... ORPHA:99944
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Ataxia, Left ventricular hypertrophy, Spastic tetrapa... ORPHA:3208
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Dystonia, Dysme... ORPHA:313772
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Simplified gyral pattern, Elbow fl... OMIM:619470
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign,... ORPHA:100996
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Ba... OMIM:210000
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... OMIM:616081
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Parkinsonism-Dystonia 2, Infantile-Onset
Poor head control, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Axial hypotonia, Trem... OMIM:618049
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spastic Paraplegia 20, Autosomal Recessive
Flexion contracture, Dysmetria, Lower limb muscle weakness, Distal amyotrophy, Upper limb spastic... OMIM:275900
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Pl... OMIM:230650
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Hypotonia, Dysmetria, Gait ataxia, ... OMIM:617810
Spinocerebellar Ataxia 2
Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Ophthalmopl... OMIM:183090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Epilepsy, Progressive Myoclonic, 9
Short thumb, Simplified gyral pattern, Gait ataxia, Myoclonus, Scoliosis, Generalized amyotrophy,... OMIM:616540
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Distal lower limb... ORPHA:101076
Childhood-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Generalized hypotonia, Type 1 muscle fiber p... ORPHA:171439
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... OMIM:616921
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Proximal muscle weak... ORPHA:401768
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Spinal cord les... ORPHA:401866
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Scoliosis, Cerebra... ORPHA:306669
Seckel Syndrome 7
Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of th... OMIM:614851
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:605253
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... OMIM:610017
Winchester Syndrome
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Distal muscle weakness, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Proxima... OMIM:618655
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Proxim... OMIM:617760
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... OMIM:617974
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Impaired proprioception, ... ORPHA:95
Immunoneurologic Disorder, X-Linked
Neonatal hypotonia, Progressive proximal muscle weakness, Spastic paraplegia, Small for gestation... OMIM:300076
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... OMIM:615924
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Peripheral axonal neuropathy, Spastic paraplegia, Distal sensory impairm... OMIM:263570
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Tremor, Cereb... OMIM:618637
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... ORPHA:93952
Syringomyelia, Noncommunicating Isolated
Lower limb spasticity, Unsteady gait, Babinski sign, Horner syndrome, Gait ataxia, Enlarged sagit... OMIM:186700
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Progressive muscle weakness, Flexion contracture, Knee flexion contra... ORPHA:2020
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Isaacs Syndrome
Weight loss, Distal sensory impairment, EEG abnormality, Calf muscle hypertrophy, Fasciculations,... ORPHA:84142
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired proprioception, Flexion contracture, Dysmetria, Loss of ambulation, Inten... OMIM:615491
Myxopapillary Ependymoma
Abnormal sacrum morphology, Unsteady gait, Ependymoma, Abnormal conus terminalis morphology, Auto... ORPHA:251643
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Dystonia, R... OMIM:607136
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis ORPHA:640
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Thoracic scolios... ORPHA:254930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, S... OMIM:619566
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Thoracic scoliosis, Writer's cramp, Fatigable weakness of distal limb muscle... ORPHA:324442
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Short neck, Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Park... OMIM:300055
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... OMIM:256840
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Somatic sensory dysfunction, Optic atrophy, Abnormal pyramidal sign, Progr... ORPHA:1177
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... OMIM:601152
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Hypotoni... OMIM:613204
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, External ophth... OMIM:612319
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Distal muscle weakness, Proximal muscle weakness, Hyperlordosis, Babinski sign,... OMIM:162370
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... OMIM:617672
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Sensory axonal... OMIM:137200
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... ORPHA:2639
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Decreased nerve conduction velocity, Diaphragmatic paralysis, Hypotonia,... ORPHA:868
Cdkl5-Deficiency Disorder
Hallux valgus, Poor head control, Broad proximal phalanges of the hand, Impaired pain sensation, ... ORPHA:505652
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Poor head control, Cachexia, Spinal rigidity, Hyperlordosis, Flexion con... ORPHA:157973
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Hip dislocation, Hypot... OMIM:616471
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Distal muscle weakness, Abnormality of the musculature of the lower ... ORPHA:329478
Dk1-Cdg
Severe muscular hypotonia, Progressive muscle weakness, Multifocal epileptiform discharges, Hypsa... ORPHA:91131
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... OMIM:617013
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Oph... OMIM:610542
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares ORPHA:2015
Porphyria, Acute Hepatic
Hemolytic anemia, Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Tay-Sachs Disease
Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity... ORPHA:845
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Perip... OMIM:616684
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy OMIM:300983
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Gowers sign, Achilles tendon contracture, Generalized muscle hyper... OMIM:604801
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Ragged-red m... OMIM:613662
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Hypotonia, Limb dystonia, Bilateral coxa valga OMIM:620270
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Nemaline Myopathy 6
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Gait disturbance, Limb muscle weakness, ... OMIM:609273
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... OMIM:613135
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Poor head control, Axial hypotonia, Severe muscular hypotonia, Decreased... OMIM:614932
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally n... OMIM:608358
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro... OMIM:256850
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Metatarsus valgus, Rigidity, Abnormal metacarpal morphology, Cox... ORPHA:559
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Opt... OMIM:617481
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... OMIM:251450
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Ophthalmoparesis, Progressive cerebellar ataxia, D... ORPHA:254881
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, ... OMIM:618237
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait... OMIM:620378
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, T... OMIM:617710
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Reduction of oligodendroglia, Writer's cramp, Tre... OMIM:312080
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation OMIM:617917
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Axial hypotonia, Ataxia, Kyphosis, Appendicular hypotonia, Tongue fasciculations, Facial myokymia... OMIM:620007
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Genu recurvatum, Tremor, Opis... ORPHA:79139
Sandhoff Disease
Ataxia, Splenomegaly, Kyphosis, Failure to thrive, Muscle weakness ORPHA:796
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Ba... OMIM:616586
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Impai... OMIM:162400
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Supranucl... OMIM:164500
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Axial hypotonia, Involuntary movements, Chorea, Generalized muscle ... OMIM:606703
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Gait d... ORPHA:391417
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Gene... OMIM:619042
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation, EEG with spike-wave... OMIM:614018
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
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Splenomegaly, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdi... ORPHA:309854
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... ORPHA:228360
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Involuntary movements, Generalized muscle wea... ORPHA:238329
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Upper limb muscle weakness, Loss of ambul... ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, External ophthalmoplegia, Tremor, Optic atrophy, Cerebral atrophy, Chore... OMIM:619422
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Axial hypotonia, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal... OMIM:612016
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,... OMIM:300816
Steel Syndrome
Carpal synostosis, Anteverted nares, Hip dislocation, Wide nasal bridge, Coxa vara, Clinodactyly ... OMIM:615155
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... OMIM:612020
Congenital Myopathy 3 With Rigid Spine
Neck flexor weakness, Flexion contracture, Axial muscle weakness, Generalized amyotrophy, General... OMIM:602771
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Tremor, Inability to walk, Rigidity, Hypotonia, Dysmetria, Gait ataxia, Gait ... OMIM:618090
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Skeletal muscle atrophy, Axial hypotonia, Ataxia, Optic atrophy, Abnormal pyra... OMIM:618228
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Axial hypotonia, Lower limb muscle weakness, Truncal t... OMIM:610532
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... ORPHA:93329
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Short nose, Anteverted nares ORPHA:46
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait, T... OMIM:303350
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Proximal muscle weakness, Tremor, Talipes cavus equinovarus, Abnormal pyramid... ORPHA:139485
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo... OMIM:278800
Tbck-Related Intellectual Disability Syndrome
Broad toe, Prominent metopic ridge, Neonatal hypotonia, Severe muscular hypotonia, Skeletal muscl... ORPHA:488632
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ge... OMIM:256600
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Typical Nemaline Myopathy
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... ORPHA:171436
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Prominent metopic ridge, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Muscl... ORPHA:85317
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Babinski sign, Abnorma... ORPHA:513436
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ... OMIM:619028
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Distal s... OMIM:311070
Pure Mitochondrial Myopathy
Neck flexor weakness, Gowers sign, Quadriceps muscle weakness, Axial muscle weakness, Loss of amb... ORPHA:254854
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuro... ORPHA:98771
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Generalized hypotonia, ... OMIM:616811
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Gait ataxia, Tongue fasciculations, Head tremor, Foot ... ORPHA:99949
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ... ORPHA:2557
Ane Syndrome
Ulnar deviation of the hand, Multiple joint contractures, Kyphoscoliosis, Motor neuron atrophy, G... ORPHA:157954
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal muscle weakness, Neuropathic arthropathy, Impaired temperature sensati... ORPHA:36386
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ... ORPHA:90650
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc... ORPHA:99956
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Hypotonia, Choreoathetos... ORPHA:702
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Impaired vibration sensation ... ORPHA:352641
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... OMIM:619279
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Scoliosis, ... ORPHA:363717
14Q11.2 Microdeletion Syndrome
Short nose, Toe syndactyly, Depressed nasal bridge, Toe clinodactyly ORPHA:261120
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Hypotonia, Muscle weakness, Hepatosplenomegaly OMIM:614885
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Onion bulb formation, Dystonia, Ataxia, Dysmetria, Dysdiadoch... OMIM:614487
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... ORPHA:496756
Acute Peripheral Arterial Occlusion
Paralysis, Leukocytosis, Paresthesia, Impaired distal tactile sensation, Limb muscle weakness ORPHA:90064
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Depressed nasal bridge, Irregular, rachitic-like metaphyses, Flared metaphysis, ... OMIM:184252
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Splenomegaly, Tre... ORPHA:812
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal ... OMIM:606002
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili... OMIM:619473
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... ORPHA:99027
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... ORPHA:319199
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tend... OMIM:300695
Fried Syndrome
Skeletal muscle atrophy, Hypotonia, Spastic diplegia, Gait disturbance, Scoliosis ORPHA:85335
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Baralle-Macken Syndrome
Tapered finger, Inability to walk, Kyphosis, Obesity, Dystonia, Neonatal hypotonia, Spasticity, G... OMIM:619255
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Wide nose, Congenital hip dislocation, Short nose ORPHA:217385
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina... OMIM:609560
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi... OMIM:256810
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Eosinophilia, Ha... ORPHA:99965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... OMIM:610131
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Poor head control, Ataxia, Abnormal morphology of musculature of pharynx, ... ORPHA:280210
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased ner... ORPHA:101082
Allan-Herndon-Dudley Syndrome
Hallux valgus, Ataxia, Clonus, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tetr... OMIM:300523
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Dystonia, Tremor, Kyphosis, In... OMIM:617988
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Short neck, Proximal muscle weakness, Splenomegaly,... OMIM:615673
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Severe muscular hypotonia, Facial palsy, Respiratory insuf... OMIM:616165
Myopathy, Distal, 3
Distal muscle weakness, Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystro... OMIM:610099
Pelizaeus-Merzbacher Disease, Classic Form
Poor head control, Dystonia, Ataxia, Axial hypotonia, Spastic tetraparesis, EEG with abnormally s... ORPHA:280219
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Maxillonasal Dysplasia
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r... ORPHA:1248
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, General... ORPHA:71517
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Harel-Yoon Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Axial hypotonia, Ataxia, Inability to walk, Opt... OMIM:617183
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Flexion co... OMIM:271225
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Short foot, EEG... OMIM:312750
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Lower limb spasticity, Peripheral axonal neuropathy, Dupuytren cont... ORPHA:100991
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Flexion contracture, Increased laxity of ankles, Muscle fiber necrosi... OMIM:254090
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hy... OMIM:203700
Microphthalmia With Limb Anomalies
Toe syndactyly, Depressed nasal bridge, Single transverse palmar crease, Sandal gap, Capitate-ham... OMIM:206920
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Bab... OMIM:612674
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge... ORPHA:1716
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Small for gestational age, M... OMIM:612073
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ... OMIM:619092
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Poor head control, Axial hypotonia, Multiple joint contractures, Short neck, ... OMIM:618065
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, H... OMIM:616313
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Lumbar hyperlordosis, Left ventricular hypertrophy, Spinal rigidity, Proximal musc... ORPHA:86812
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Corpus callosum atrophy, Babinski sign,... ORPHA:447760
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, External ophthalmoplegia, Hyperlordosis, Fatigable weakness, Gait disturbance OMIM:614198
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Somatic sensory dysfunction, Bulba... ORPHA:99857
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Ophthalmop... ORPHA:1170
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... OMIM:302950
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Depressed nasal bridge, Elbow dislocation, Patellar dislocation, Short... ORPHA:93328
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Foot dorsiflexor weakness, Ophthalmoplegia, Neck muscle weakness, Oculomotor apraxia, ... ORPHA:171629
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sens... OMIM:605589
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Abnormal muscle tone, Neurodegeneration... ORPHA:478029
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Scapuloperoneal weakness, ... OMIM:300696
Poliomyelitis
Skeletal muscle atrophy, Bulbar palsy, Abnormal motor nerve conduction velocity, Paralysis, Hypop... ORPHA:2912
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy, Dystonia OMIM:203740
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Myasthenic Syndrome, Congenital, 10
Waddling gait, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Ophth... OMIM:254300
Autosomal Dominant Spastic Paraplegia Type 9B
Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Elbow f... ORPHA:447757
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short nose, Spina bifida occulta ORPHA:1514
Christianson Syndrome
Cerebellar atrophy, Decreased muscle mass, Dystonia, Cachexia, Ophthalmoplegia, Gait ataxia, Trun... ORPHA:85278
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... OMIM:608154
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Abnormal metatarsal morphology, Flat capital femoral epiphysis, Hip subluxa... ORPHA:93360
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Recurrent upper respiratory tract ... ORPHA:99330
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Short nose, Anteverted nares ORPHA:531
Odontochondrodysplasia
Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa valga, Cone-shaped epiphysis, ... ORPHA:166272
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... OMIM:612126
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Choreoat... OMIM:612438
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatarsal, Advanced ossificati... OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia,... OMIM:618587
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis OMIM:260540
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle ... ORPHA:209335
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Congenital Myopathy 20
Skeletal muscle atrophy, Failure to thrive, Ulnar deviation of the hand, Scapular winging, Elbow ... OMIM:620310
Gm2-Gangliosidosis, Ab Variant
Poor head control, Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis... OMIM:272750
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Abnorma... ORPHA:459033
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... ORPHA:268882
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Abdominal wall muscle weakness, Scapular winging, Proximal muscle weakness, Hyperlordo... OMIM:618129
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hand tremor, Head tremor, Arachnodactyly, Ophthalmoplegia, Distal amyotr... ORPHA:412057
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... ORPHA:98913
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Sandal gap, Tremor, Kyphosis, Small hand, Simplified gyral pattern,... OMIM:300354
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Spinal rigidity, Respiratory insufficiency due to muscle weak... OMIM:613205
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... ORPHA:139480
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Epiphyseal dyspla... OMIM:226980
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity OMIM:615400
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Unilambdoid synostosis, Wide nasal bridge, Clinod... OMIM:618577
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot OMIM:618506
Brain Dopamine-Serotonin Vesicular Transport Disease
Poor head control, Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetrapare... ORPHA:352649
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short... ORPHA:363417
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Generalized hypotonia, Dystonia OMIM:617836
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Proximal muscle weakness, Centrally nucleated skeletal... OMIM:618484
Foix-Alajouanine Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Somatic sensory dysfunction, Low b... ORPHA:79093
Peho-Like Syndrome
Short nose, Tapered finger OMIM:617507
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Short nose, Depressed nasal bridge, Hypoplastic ischia OMIM:616910
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hypotonia, Ataxi... ORPHA:354
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Alexander Disease Type Ii
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Abnormal autonomic nervous system ph... ORPHA:363722
Spinocerebellar Ataxia Type 3
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Abnormal pyramidal sign, Vocal cor... ORPHA:98757
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... OMIM:610797
Spinocerebellar Ataxia 36
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Li... OMIM:614153
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, EEG abnormality, Sc... ORPHA:2047
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness OMIM:619133
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, External ophthalmoplegia, P... OMIM:160150
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Truncal titubation, Axial hypotonia, Facial palsy, External ophthalmoplegia, Inability to walk, C... OMIM:607483
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Axial hypotonia, Cachexia, External ophthalmoplegia, Hypotonia, Weight loss, Gait ataxia, General... OMIM:612075
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tend... OMIM:607155
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Spasticity, Ataxia, Tremor OMIM:278780
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Facial palsy, Increas... OMIM:617114
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ataxia, Progressive intervertebral... ORPHA:480
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face OMIM:128235
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat... OMIM:117000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98855
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... ORPHA:99750
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, Flexion contracture, Generalized... ORPHA:87876
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum... OMIM:617752
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Dystonia, Hypotonia, Generalized hypotonia, Scoliosis OMIM:618244
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Talipes ... ORPHA:401815
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... OMIM:609616
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive external ophthalmoplegia, Hyperlordosis, Gowers sign, Ophthalmoparesis, Myopathy, Sho... OMIM:615156
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Abnormality of neuronal migration, ... OMIM:300957
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize... ORPHA:36387
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Anteverted nares, Delayed cranial suture closure ORPHA:1832
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, EEG abnormality, Brain atrophy, Infantile muscular hypotonia, Spastici... OMIM:618718
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... ORPHA:411602
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty wa... ORPHA:529665
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal phalanges... OMIM:300863
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dis... OMIM:314580
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short f... OMIM:618392
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Multiple System Atrophy
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:102
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck, Tapered fi... OMIM:616801
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe ga... ORPHA:216866
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... ORPHA:289560
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Epiph... ORPHA:1914
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic b... OMIM:614524
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Skeletal muscle atrophy, Kyphosis, Splenomegaly,... ORPHA:90324
Pierpont Syndrome
Wide nose, Broad nasal tip, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, ... OMIM:602342
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Onion bulb formation, Skeletal muscle atrophy, Optic neuropathy, Tibialis ... ORPHA:320375
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Hypotonia, Dysmetria, Myoclonus, Failure to thrive OMIM:618251
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Failure to thrive, Ataxia, External ophthalmoplegia, Ophthalmoplegia, Op... OMIM:613559
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Ankle flexion contracture, Respirat... ORPHA:1143
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... OMIM:607694
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Ankle flexion contracture, Tremor, Splenomegaly, Optic atrophy, Upper limb undergrowth, S... OMIM:608799
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Eosinophilia, Facial palsy, Flexion contracture, Clumsiness, Proximal... OMIM:253600
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Hypotonia, Cerebral... OMIM:618877
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... OMIM:604391
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Ophthalmoplegia, Generalized mu... ORPHA:171433
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Macrocytic anemia, Scapular winging, Ataxia, Corpus ... ORPHA:98673
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... ORPHA:3121
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Progressive external ophthalmoplegia, Peripheral axonal neuropathy, Distal muscle weakness, Skele... OMIM:617070
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Hypotonia, Choreoat... OMIM:617664
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Skeletal muscle atrophy, Poor head control, Corpus callosum atrophy, Inabilit... OMIM:617339
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Trem... ORPHA:447753
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Short thumb, Wide ... ORPHA:401935
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, ... OMIM:616239
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... ORPHA:227510
Mesomelia-Synostoses Syndrome
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,... ORPHA:2496
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetos... OMIM:261640
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, De... ORPHA:950
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Poor head control, Facial palsy, Abnormal muscle fiber ... ORPHA:171881
Pontocerebellar Hypoplasia, Type 1B
Cerebellar atrophy, Skeletal muscle atrophy, Poor head control, Axial hypotonia, Flexion contract... OMIM:614678
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, ... OMIM:614831
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Short thumb, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th ... OMIM:618453
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Wrist swelling, Wide nasal bridge, Slender long bone, Metacarpal osteoly... ORPHA:2774
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Distal muscle weakness, Facial palsy, Rocker botto... OMIM:301041
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ata... OMIM:617695
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... OMIM:101600
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Osteolysis involving tarsal bones, M... OMIM:166300
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... ORPHA:52368
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ... ORPHA:319675
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... ORPHA:2741
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity ORPHA:2429
Superficial Siderosis
Back pain, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait a... ORPHA:247245
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:98933
Spastic Paraplegia 16, X-Linked
Lower limb spasticity, Facial hypotonia, Babinski sign, Spastic paraplegia, Lower limb amyotrophy... OMIM:300266
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Obesity, Central nervous system degeneration, Abnor... ORPHA:98907
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Distal amyotrophy, ... OMIM:607736
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Craniosynostosis, Split hand, Short nose, Convex nasal ridge, Brac... ORPHA:2145
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Axial hypotonia, Tremor, Rigidity, ... ORPHA:70594
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl... OMIM:613443
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Long hallux, Tapered finger OMIM:619854
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babin... OMIM:616795
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Skeletal muscle atrophy, Ata... OMIM:617193
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Scoliosis OMIM:616421
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Axial hypotonia, Kyphoscoliosis, Corpus callosum atrophy, Abnormal pyram... OMIM:260600
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, EEG abnormality, Hypertonia, Generalized hypotonia OMIM:617106
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Focal EEG ... ORPHA:3077
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Atrophy ... ORPHA:2822
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Single transverse palmar crease, Bulbous nose, Clinodactyly, Wide nasal bridge,... OMIM:613604
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hype... OMIM:619737
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Small hand, Tremor OMIM:616269
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto... ORPHA:171839
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Obesity, ... OMIM:301900
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, Inabi... OMIM:257200
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab... ORPHA:139396
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Scoliosis, Generalized amyotroph... OMIM:616516
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Ataxia, Facial palsy, Autophagic vacuoles, Proximal muscle weakness, Exte... OMIM:164310
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Hypotonia, Gait disturbance, Cubitus valgus, Congenital muscular dystrophy ORPHA:1875
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus OMIM:159900
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, B... ORPHA:83629
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Axial muscle weakness, Type 1 muscle fiber predomi... ORPHA:98915
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Centra... OMIM:255320
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Brachy... ORPHA:1327
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal muscle weakness, Decreased nerve conduction velocity, Distal... OMIM:608895
Non-Distal Duplication 10Q
Short nose, Depressed nasal bridge, Convex nasal ridge ORPHA:1695
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
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
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n... OMIM:186500
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Short nose OMIM:617991
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Chromosome 6Q11-Q14 Deletion Syndrome
Single transverse palmar crease, Prominent nasal bridge, Broad nasal tip, Talipes equinovarus, Um... OMIM:613544
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Limb apraxia, Inability to walk, Bradykinesia, EEG abnormality... ORPHA:778
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... ORPHA:97349
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult... ORPHA:477673
Teebi Hypertelorism Syndrome 2
Syndactyly, Depressed nasal bridge, Broad nasal tip, Clinodactyly of the 5th finger, Short nose OMIM:619736
Congenital Myopathy 19
Skeletal muscle atrophy, Axial hypotonia, Facial hypotonia, Respiratory insufficiency due to musc... OMIM:618578
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... OMIM:168600
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... ORPHA:590
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Skeletal muscle atrophy, Decreased body weight, Ataxia, Ophthalmoplegia, Loss... OMIM:300243
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Depressed nasal ridge, Polydactyly, Talipes equinovarus, ... OMIM:613885
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Postaxial hand polyd... OMIM:241800
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, 1-4 toe sy... OMIM:617201
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest serration, Metaphyse... OMIM:613320
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Splenomegaly, Limb-girdle muscle weakness, Progressive muscle weakness, ... ORPHA:79240
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Abdominal wall muscle weakness, Scapular winging, Facial palsy, Beevor's... OMIM:158900
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Long fingers, Ulnar deviation of finger, Short nose, Slender f... ORPHA:1895
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand trem... ORPHA:276198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Tremor, Gowers sign, Chorea, Generalized hypotonia, Waddling gait, Ataxia, Hyperlordosis, Athetos... OMIM:615356
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Coxa valga, Abnormality of the elbow, Flat acetabular r... ORPHA:163649
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... OMIM:612736
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... ORPHA:98905
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Poor head control, Lowe... ORPHA:206436
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal nostril morphology,... ORPHA:1295
Fg Syndrome 5
Metopic synostosis, Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Gowers sign, Ragged-red muscle fibers, Axial muscle weakness, Generalized amy... OMIM:620351
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Short foot, Talipes equinovarus, Umbilical hernia, Short nose ORPHA:93298
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... ORPHA:206549
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr... ORPHA:457395
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, D... ORPHA:163966
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviati... OMIM:618291
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Distal sensory impairme... OMIM:607791
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot dorsiflexor weaknes... ORPHA:298
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Gliosis, Falls, Supranuclear ophtha... ORPHA:683
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, EEG abnormality, Ataxia, Gait ataxia OMIM:617831
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un... OMIM:614871
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Hypotonia, Increased v... OMIM:620161
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Depressed nasal bridge, Anteverted nares, Single interphalangeal crease of fift... OMIM:611717
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Camptodactyly of finger ORPHA:1495
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we... OMIM:254130
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, EEG abnormality, Distal amyotrophy, Dyston... OMIM:618247
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity... ORPHA:397744
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Scapular winging, Pelvic girdle muscle atrophy, Calf muscle pseudohypertrophy, Limb-girdle muscle... OMIM:604286
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thrombocytopenia OMIM:615010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Sple... ORPHA:264580
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Tapered finger, Bulbous nose, Interphalangeal thumb joint contracture, Sh... OMIM:613870
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Legg-Calvé-Perthes Disease
Joint dislocation, Skeletal muscle atrophy ORPHA:2380
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification... OMIM:215045
Glycogen Storage Disease Due To Acid Maltase Deficiency
Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles, Lower limb muscle we... ORPHA:365
Ataxia-Telangiectasia
Lymphopenia, Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spasticity, Failure to th... ORPHA:100
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases OMIM:611936
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign,... OMIM:500013
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Generalized... OMIM:233910
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Limited knee extension, W... ORPHA:239
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Waardenburg Syndrome, Type 3
Scapular winging, Prominent nasal bridge, Camptodactyly of finger, Wide nasal bridge, Cutaneous f... OMIM:148820
Episodic Ataxia Type 1
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle h... ORPHA:37612
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Cerebral cortical atrophy, Anemia ORPHA:1192
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Poor head control, Paroxysmal dystonia, Weakness due to upper motor neuron... ORPHA:466722
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Postaxial hand polydactyly ORPHA:1389
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly ORPHA:210548
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Myoclonus, Gener... OMIM:312170
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis OMIM:300861
Achondrogenesis Type 1A
Anteverted nares, Micromelia, Short foot, Short palm, Umbilical hernia, Short nose ORPHA:93299
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares ORPHA:228384
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand ORPHA:2547
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Skeletal muscle atrophy, Wormian bones, Ataxia, Kyphoscoliosis, Short neck, Hy... OMIM:300232
Cog8-Cdg
Cerebellar atrophy, Chronic axonal neuropathy, Poor head control, Skeletal muscle atrophy, Ataxia... ORPHA:95428
Neuroblastoma, Susceptibility To, 1
Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang... OMIM:256700
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Microhydranencephaly
Skeletal muscle atrophy, Poor head control, Multiple joint contractures, Spastic tetraplegia, Ath... OMIM:605013
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, ... ORPHA:2388
Pulmonary Blastoma
Weight loss ORPHA:64741
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Anisos... OMIM:156530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa... OMIM:253601
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Distal lower limb amyotrophy, Babinski sign, Spastic paraplegia, Ab... ORPHA:459056
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... OMIM:618395
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Hypotonia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) OMIM:616366
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Metaphyseal dysplasia, Epiphyseal dysplasia, Depressed nasal bridge, Craniosynostosis, Short nose OMIM:614732
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D... OMIM:615217
Tick-Borne Encephalitis
Back pain, Speech apraxia, Somatic sensory dysfunction, Incoordination, Skeletal muscle atrophy, ... ORPHA:297
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Facial myokymia... ORPHA:324588
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Axial hypotonia, Optic atrophy, Spastic tetraplegia, Abnormality of extr... OMIM:619527
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, ... OMIM:618186
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Op... ORPHA:682
Al-Raqad Syndrome
Short nose, Sandal gap, Brachydactyly OMIM:616459
Tetrasomy 18P
Large hands, Short nose ORPHA:3307
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Axial hypotonia, Optic nerve hypoplasia, Optic ... ORPHA:496790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotrophy, Calf muscle hypertr... OMIM:601287
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:614381
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Wide nasal bridge, Camptodactyly, Me... OMIM:618529
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta... ORPHA:93314
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Cone-shaped e... OMIM:184260
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short distal phalanx of toe, Short nose, Bilateral triphalangeal thumbs, Short ... OMIM:619356
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Neonatal hypotonia, Ataxia, Tremor, Unsteady gait, Dysmetria, Generalized hyp... OMIM:614867
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... OMIM:255800
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Optic atrophy, Hypotonia, ... ORPHA:477814
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Femoral-Facial Syndrome
Short femur, Abnormal fibula morphology, Coxa vara, Radioulnar synostosis, Abnormal pelvic girdle... ORPHA:1988
Developmental And Epileptic Encephalopathy 46
Axial hypotonia, Tremor, Cerebral atrophy, Hypsarrhythmia, Failure to thrive, Limb hypertonia OMIM:617162
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Periventricular heterotopia, Rigidity, Kyphosis, Metaphyseal wi... OMIM:618476
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Arachnodactyly, Bilateral talipes equinovarus, Talipes equin... OMIM:615539
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Abnormal ... ORPHA:1458
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Hypotonia, Gai... OMIM:620089
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Proximal muscle weakness, Scapuloperoneal weakne... OMIM:255160
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... OMIM:620269
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Axial hypotonia, Optic atroph... OMIM:615419
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, In... ORPHA:502423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Gowers sign, Flexion contr... OMIM:253700
Opsismodysplasia
Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epi... ORPHA:2746
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Axial hypotonia, Arachnodactyly, Inability to walk, Babinski sign, Cereb... OMIM:616420
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Hypotonia, Cerebral atrophy, ... OMIM:614969
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap... OMIM:270700
Verheij Syndrome
Branchial cyst, Vertebral fusion, Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal ... OMIM:615583
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Peripheral axonal neuropathy, Severe muscular hypotonia, Abnormal cortic... OMIM:616867
Lissencephaly 8
Appendicular spasticity, Skeletal muscle atrophy, Axial hypotonia, Optic atrophy, Talipes equinov... OMIM:617255
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel... ORPHA:2378
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Bulbar palsy, Exaggerated startle response, Abnormal cor... ORPHA:521426
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Thoracic scoliosis, Broad-based gait, Swan neck-like deformities of the fingers, S... OMIM:616716
Achondrogenesis
Umbilical hernia, Short nose, Anteverted nares, Micromelia ORPHA:932
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Leukopenia, Cortic... ORPHA:1328
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Craniosynosto... OMIM:616723
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Ataxia, Arachnodactyly, Broad hallux, Inability... ORPHA:481152
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Opisthotonus, T lymphocytopenia, Hyperton... ORPHA:508533
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Depressed nasal bridge, Broad hallux, Prominent nose, Short toe, Short metatars... ORPHA:439822
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Congenital hip dislocation, Ataxia, Dystonia, Optic ... ORPHA:496641
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, In... ORPHA:681
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Large joint dislocations, Craniosynosto... ORPHA:503
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Hypotonia, Paresthesia, Myoclonus... ORPHA:79279
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Camptodactyly, Short nose OMIM:610015
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:615716
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ... OMIM:618443
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Small for gestational age, Kyphosis, Congenital contracture, Hypertonia, Joint co... ORPHA:352490
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Flexion contracture, Gliosis, Generalized amyotrophy, Ataxia, Tapered fi... OMIM:301072
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia, Failure to thrive OMIM:619556
Adenylosuccinase Deficiency
Cerebellar atrophy, Skeletal muscle atrophy, Prominent metopic ridge, Inability to walk, Hypotoni... OMIM:103050
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Gowers sign, Generalized... OMIM:613723
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Tetraparesis... OMIM:616827
Pterygium Colli, Isolated
Short nose OMIM:177990
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Increased variability in muscle fiber diameter, Limb ataxia, D... OMIM:617675
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Talipes equinovarus,... OMIM:619859
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Underd... ORPHA:1234
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Abnormality of the elbow, Anteverted nares, Brachydactyly ORPHA:2701
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Arthrogryposis, Distal, Type 2A
Joint dislocation, Hip contracture, Flexion contracture of finger, Rocker bottom foot, Shoulder f... OMIM:193700
Developmental And Epileptic Encephalopathy 4
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hy... OMIM:612164
Choreoacanthocytosis
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate... OMIM:200150
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cachexia ORPHA:1933
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Hypotoni... OMIM:617143
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Neonatal hypotonia, Axial hypotonia, Arachnodactyly, Cachexia, Short neck, Small... ORPHA:371364
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
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... OMIM:259600
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... ORPHA:98805
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Cachexia, Proximal muscle weakness, Hypotonia, Fatigable weaknes... ORPHA:42
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Poor head control, Severe muscular hypotonia, Kyphoscoliosis, Myopathy, ... ORPHA:300179
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Zimmermann-Laband Syndrome 3
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Absent distal phalan... OMIM:618658
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... OMIM:105210
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Weight loss ORPHA:141152
Alexander Disease
Ataxia, Facial palsy, Clonus, Short neck, Hyperlordosis, Kyphosis, Chorea, Tremor, Abnormal pyram... ORPHA:58
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract... ORPHA:391372
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Short nose, Dysplasia of the femora... OMIM:616854
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Craniofacial-Deafness-Hand Syndrome
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris OMIM:122880
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia, Horner syndrome OMIM:141300
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,... ORPHA:477817
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesi... ORPHA:53351
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Hypotonia, Cachexia ORPHA:1216
Multicentric Reticulohistiocytosis
Arthritis, Muscle weakness, Cachexia, Histiocytosis ORPHA:139436
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Myofibrillar Myopathy 11
Proximal muscle weakness, Overweight, Gowers sign, Centrally nucleated skeletal muscle fibers, Z-... OMIM:619178
Trigonocephaly 1
Metopic synostosis, Short nose, Wide nasal bridge, Craniosynostosis OMIM:190440
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... ORPHA:765
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, Trem... ORPHA:85293
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... OMIM:146500
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial ... OMIM:615084
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Wilson Disease
Back pain, Splenomegaly, Increased body weight, Weight loss, Anemia, Proximal muscle weakness in ... ORPHA:905
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
C Syndrome
Short metacarpal, Toe syndactyly, Anteverted nares, Micromelia, Postaxial hand polydactyly, Hip d... OMIM:211750
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Kyphosis, Obesity, Hypotonia, Large hands, Scoliosis ORPHA:276630
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Fibrochondrogenesis 1
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Dumbbell-shaped long bone, Rhizom... OMIM:228520
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Gliosis, Neutropen... ORPHA:506
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the 5th finger, Sho... OMIM:618828
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Short ... ORPHA:2083
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Sandhoff Disease
Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired ... OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Bulbar palsy, Exaggerated startle response, Abnormal cortical gyration, Rocker bottom foot, Posta... OMIM:617527
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation OMIM:619405
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Myopathy, Myofibrillar, 8
Scapular winging, Spinal rigidity, Proximal muscle weakness, Gowers sign, Centrally nucleated ske... OMIM:617258
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Progressive external ophthalmoplegia, Scapular winging, Skeletal muscle atrophy, Proximal muscle ... OMIM:617069
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Generalized hypotonia... OMIM:615834
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Fem... ORPHA:83
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Macrocytic anemia, Tremor, Hypotonia, Dysmetria, Hypersegmentation of ne... OMIM:615578
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Gliosis, Shuffl... OMIM:168601
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Generalize... ORPHA:254892
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Depressed nasal bridge, Anteverted nares, Overlapping toe, Prominent nose, Long fingers... OMIM:618316
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Fatal Familial Insomnia
Ataxia, Weight loss, Myoclonus, Abnormal autonomic nervous system physiology, Neuronal loss in ce... OMIM:600072
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ... OMIM:234200
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Sacrococcygeal pilonidal abnormality, Hip dislocation, Gait disturbance,... ORPHA:2840
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Postural tremor, Autophagic vacuoles, External ophthalmoplegia, Fatty rep... OMIM:619790
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Depressed nasal bridge, Single transverse palmar crease, ... OMIM:615777
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Foot dorsiflexor weakness, Ataxia, Abnormal dense gran... OMIM:214500
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Gai... ORPHA:458803
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Distal muscle weakness, Ataxia, Fac... ORPHA:456312
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... ORPHA:94080
Perlman Syndrome
Short nose, Anteverted nares, Wide nasal bridge, Bilateral single transverse palmar creases ORPHA:2849
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Clinodactyly of the 4th finger, ... ORPHA:485405
Ck Syndrome
Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Generalized hypotonia, Pachygyria,... OMIM:300831
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap... ORPHA:192
Neuraminidase Deficiency
Skeletal muscle atrophy, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Slurred sp... OMIM:256550
L1 Syndrome
Skeletal muscle atrophy, Aganglionic megacolon, Hemiplegia/hemiparesis, Gait disturbance, Spastic... ORPHA:275543
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Scapular winging, Calf muscle p... ORPHA:352479
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Delayed cranial suture closure ORPHA:1129
Acute Disseminated Encephalomyelitis
Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal ... ORPHA:83597
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Flexion contracture, Scoliosis, Brain atrophy, Decreased body weight OMIM:278760
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis ... OMIM:618393
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Microcytic anemia, Kyphosis, Abnormal sacrum morphology, Optic atroph... ORPHA:324737
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Skeletal muscle atrophy, Poor head control, Corpus callosum atrophy, Hypotoni... OMIM:619272
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Sandal gap OMIM:300887
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Speech apraxia, Skeletal muscle atrophy, Abnormal thumb morphology,... ORPHA:101000
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Axial hypotonia, Hip subluxation, Vocal cord paralysis, Optic atrophy, Hypsarrhythmia, Increased ... ORPHA:500144
Atelosteogenesis, Type I
Short metatarsal, Tibial bowing, Knee dislocation, Encephalocele, Short metacarpal, Radial bowing... OMIM:108720
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Shoulder dislocation, Gait disturbance, Scoliosis, Hemiplegia, Adducted... ORPHA:2181
Amyotrophy, Monomelic
Cold paresis, Upper limb muscle weakness, Fasciculations, Cervical spinal cord atrophy, Interosse... OMIM:602440
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor OMIM:231950
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat capital femoral epiphys... OMIM:271510
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Hypotonia, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait distu... ORPHA:457240
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Brachydactyly, Epiphyseal dysplasia, Depressed nasal bridge, Single transv... OMIM:617425
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Genu recurvatum, Slender long bone, Cubitus valgus, Short nose, Spina bifida oc... ORPHA:1185
Tuberculosis
Weight loss ORPHA:3389
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Broad hallux, Bulbous ... OMIM:614105
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Clinodactyly of the 5th finger, Scolio... ORPHA:3454
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia ORPHA:52503
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Inability to walk, Kyphosis, Fl... OMIM:615547
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Axial hypotonia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cere... OMIM:619487
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Kyphosis, Ophthalmoplegia, Absent... OMIM:108145
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Vertebral fusion, Scapular winging, Short metacarpal, Anteverted nares, Bowed ... OMIM:272460
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Short nose, Osteoarthritis, Abnormal epiphysis morphology ORPHA:90653
Arachnoid Cyst
Back pain, Distal muscle weakness, Facial palsy, Spinal cord compression, Inability to walk, Spin... ORPHA:2356
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c... OMIM:305400
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... OMIM:618363
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Postaxial polydactyly, Tremor, Poor coordination, Hypotonia, Gait disturbance, Abnormalit... ORPHA:544254
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Long nose... ORPHA:261211
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscol... OMIM:300280
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Overlapping toe, Cutaneous syndactyly, Talipes equinova... OMIM:617822
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu... OMIM:130060
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Dystonia, Ataxia, Optic atrophy, Hypochromic microcytic anemia, Normochrom... ORPHA:66634
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Abnormality of the hand, Bulbous nose, Wide nasal bridge, Cam... ORPHA:369891
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Hypotonia, Generalized limb muscle atrophy, Myopathy, Scoliosis, Anemia ORPHA:2598
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... OMIM:310440
Madras Motor Neuron Disease
Bulbar palsy, Distal muscle weakness, Facial palsy, Babinski sign, Optic atrophy, Limb fasciculat... ORPHA:137867
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness OMIM:106100
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Wide nasal bridge, Symphalangism affecting the phalanges of the... ORPHA:710
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... ORPHA:1842
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Thrombocytopenia OMIM:274240
Variegate Porphyria
Paralysis OMIM:176200
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Limit... ORPHA:94068
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp... ORPHA:240071
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Overlapping toe, Wide nasal bridge, Overlapping fingers, S... OMIM:619383
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... OMIM:618430
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Knee flexion con... OMIM:619708
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Syndactyly, EEG with focal spike waves, Ataxia, Tremor, Unstea... ORPHA:1942
Schindler Disease, Type I
Optic atrophy, Hypotonia, Myoclonus, Generalized hypotonia, Generalized amyotrophy, Spasticity OMIM:609241
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Ataxia, Overweight, Obesity, 2-3 toe syndactyly, Hypsarrhythm... OMIM:619229
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Clinodactyly of the 5th finger, Shor... OMIM:249620
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Poor head control, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrophy, Dys... ORPHA:572798
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Depressed nasal bridge, Single transverse palmar crease, Sandal gap, Tapered fi... OMIM:617061
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Chorea, Axonal loss, Shoulder dislocation, Gliosis, Athetosis, EEG ab... ORPHA:404454
Anauxetic Dysplasia 1
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... OMIM:607095
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Hepatosplenomegaly, Distal amyotrophy, Abnormal auto... OMIM:609136
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Non-Distal Duplication 13Q
Short nose, Arachnodactyly, Postaxial hand polydactyly ORPHA:1702
Axial Spondylometaphyseal Dysplasia
Iliac crest serration, Hypoplastic iliac wing, Proximal femoral metaphyseal irregularity, Upper l... ORPHA:168549
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Cerebral atrophy, Gray matter heterotopia, Hand polydactyly, Scoliosis, Rad... OMIM:300337
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Hypotonia,... OMIM:255125
Trisomy 12P
Clinodactyly of the 5th finger, Short nose, Large hands, Wide nasal bridge ORPHA:1699
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... OMIM:183900
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Classic Multiminicore Myopathy
Poor head control, Multiple joint contractures, Absent muscle fiber merosin, Spinal rigidity, Int... ORPHA:324604
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Depressed nasal bridge, Tarsal synostosis, Short hallux,... ORPHA:90652
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal form of the verte... ORPHA:83468
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Fractured radius, Wormian bones, Decreased fibular diameter, Flare... OMIM:616897
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... OMIM:310300
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia OMIM:609384
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... ORPHA:178148
Joubert Syndrome
Aganglionic megacolon, Ataxia, Tremor, Abnormality of neuronal migration, Abnormal form of the ve... ORPHA:475
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, EEG with abnormally slow frequencies, Inability to walk, Kyphosis, Unsteady gait... OMIM:618493
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Femoral bowing, Tibial bowing, Knee flexion con... OMIM:601559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Prominent nasal bridge, Tapered finger ORPHA:3010
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Small for gestational age, Hypoton... OMIM:615471
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Leg muscle stiffness, Brad... OMIM:615530
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dy... OMIM:618056
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalange... ORPHA:544503
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Idiopathic Achalasia
Weight loss ORPHA:930
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Rett Syndrome, Congenital Variant
Neonatal hypotonia, Dystonia, Kyphosis, Chorea, Simplified gyral pattern, Athetosis, EEG abnormal... OMIM:613454
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Recurrent upper respiratory tract infections, Cal... ORPHA:3078
Marshall Syndrome
Radial bowing, Depressed nasal bridge, Anteverted nares, Coxa valga, Hypoplastic ilia, Ulnar bowi... OMIM:154780
Osteoglophonic Dysplasia
Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals, Pseudoarthrosis, Short ... OMIM:166250
Camurati-Engelmann Disease, Type 2
Waddling gait, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion co... OMIM:606631
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Hypotonia, Cervical myelopathy, Tetraparesis, ... OMIM:617186
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Ataxia, Rhizomelia, Tremor, Flexion contracture, Hypotonia, Cerebra... OMIM:616271
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... OMIM:600002
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly, Short nose OMIM:618087
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Glossopharyngeal Neuralgia
Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal g... ORPHA:221098
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Distal muscle weakness, Genu recurvatum, Axial hypotonia, Facial hypotonia, K... ORPHA:364028
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... OMIM:200600
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5th toe, Slender toe, Clino... ORPHA:391408
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Mucopolysaccharidosis, Type Iva
Waddling gait, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, H... OMIM:253000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Single transverse palmar crease, Wide nasal bridge, Coxa vara, 2-3 ... OMIM:614701
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Broad-based gait, Ataxia, EEG with abnormally slow frequencies,... ORPHA:98794
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Small hand, Wide nasal bridg... OMIM:145420
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed ... OMIM:619797
Diencephalic Syndrome
Large hands, Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Sandal gap, Short toe, Clinodactyly of the 5th finger, Short nose, Spina bifida... OMIM:617877
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb musc... OMIM:612300
Omodysplasia 1
Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Limited knee flexi... OMIM:258315
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Clinodactyly, Sho... OMIM:615866
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Hypotonia, Scoliosis, Spasticity ORPHA:816
Peho Syndrome
Short nose, Tapered finger OMIM:260565
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose OMIM:616430
Intestinal Dysmotility Syndrome
Failure to thrive, Hypotonia, Weight loss OMIM:620045
Microcephaly-Capillary Malformation Syndrome
Wide nose, Clinodactyly, Short distal phalanx of finger, Short nose, Brachydactyly OMIM:614261
Larsen Syndrome
Vertebral fusion, Short metacarpal, Depressed nasal bridge, Spatulate thumbs, Elbow dislocation, ... OMIM:150250
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ... OMIM:612394
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Hypotonia, Episodic flaccid weakness, Myopathy, Muscle weakness OMIM:170400
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Prominent metopic ridge, Axial hypotonia, Temporal cortical atrophy, Gen... OMIM:618862
Distal Deletion 10Q
Scapular winging, Prominent metopic ridge, Sandal gap, Prominent nasal bridge, Single transverse ... ORPHA:96148
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy, Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment OMIM:300614
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Single transverse palmar crease, Proximal placement of... OMIM:618619
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Prominent metopic ridge, Sandal gap, Optic nerve hypoplasia, Facial palsy,... ORPHA:261349
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the 5th finger, Short n... ORPHA:1786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Agyria, Type II lissencephaly, Spinal rigi... OMIM:253800
Waardenburg Syndrome Type 3
Narrow nasal bridge, Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndac... ORPHA:896
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Cranial nerve compression, Diaphyseal sclerosis, Genu val... OMIM:131300
Sneddon Syndrome
Facial palsy, Tremor, Impaired distal tactile sensation, Hemiplegia, Lymphopenia OMIM:182410
Asparagine Synthetase Deficiency
Caudate atrophy, Exaggerated startle response, Axial hypotonia, Optic nerve hypoplasia, Clonus, T... OMIM:615574
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge OMIM:618774
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Depressed nasal bridge, Anteverted nares, Partial duplication of thumb phalanx, Pa... OMIM:616331
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Abnormality of the vertebral column... ORPHA:53721
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose OMIM:614069
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Deep palmar crease, Umbilic... OMIM:616638
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ... OMIM:271665
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Ulnar deviation of the wrist, Hyperlordosis, Coxa valga, Hypoplas... OMIM:253010
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Hypotonia, Short foot, Scol... ORPHA:238750
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Meningocele, Clinodactyly of the 5th finger, Short nose ORPHA:2031
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Somatic sensory dysfunction, Torticollis, Spinal c... ORPHA:370348
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Generalized muscle weakness, Hand tremor, Periodic paralysis OMIM:609153
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... ORPHA:167
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Slender long bone,... ORPHA:561
Fetal Hydantoin Syndrome
Short nose, Depressed nasal ridge, Triphalangeal thumb, Short distal phalanx of finger ORPHA:1912
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Poor head control, Dystonia, EEG with spike-wave co... ORPHA:1934
Rhombencephalosynapsis
Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thumb phalanx, Short no... ORPHA:59315
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nares, Short hallu... ORPHA:2710
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Tremor, Abnormality of the spleen, Hypotonia, Syringomyelia, Scoliosis, ... ORPHA:94063
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol... ORPHA:713
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Spinal ... ORPHA:352447
Fetal Trimethadione Syndrome
Short nose, Depressed nasal bridge, Bilateral single transverse palmar creases ORPHA:1913
20Q11.2 Microduplication Syndrome
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short foot,... ORPHA:363659
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Genu valgum ORPHA:2983
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myopathy, Periodic paralysis OMIM:613345
Opsismodysplasia
Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Metaphyseal cupping, Squa... OMIM:258480
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Adva... OMIM:224400
Galactose Epimerase Deficiency
Splenomegaly, Hypotonia, Weight loss ORPHA:79238
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, EEG abnormality, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Distal muscle weakness, Abnormal peripheral myelination, Steppage gait, ... ORPHA:168563
Diastrophic Dysplasia
Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Micromelia, Proximal placem... ORPHA:628
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100083
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Wide nose, Broad hallux, Prominent nasal bridge, Slender finger, Small h... ORPHA:251028
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormal form of the... ORPHA:93941
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Limited mobility of pr... OMIM:222300
Holocarboxylase Synthetase Deficiency
Ataxia, Hypotonia, Weight loss, Lethargy, Thrombocytopenia ORPHA:79242
Rhabdoid Tumor
Cerebral palsy, Weight loss, Anemia, Oculomotor nerve palsy, Hemiplegia, Thrombocytopenia ORPHA:69077
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Choanal stenosis, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Ab... ORPHA:95699
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Li... OMIM:616812
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Myopathy, Abdominal obes... OMIM:615980
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Glioblastoma
Glioblastoma multiforme, Muscle weakness, Paralysis ORPHA:360
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Ataxia, Tremor, Hypotonia, Hand polydactyly, Gait disturbance, Foot polyda... ORPHA:220493
Tetrasomy 5P
Anteverted nares, Overlapping toe, Short hallux, Long fingers, Wide nasal bridge, Talipes equinov... ORPHA:3309
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Ataxia, Tremor, Hypotonia, Hand polydactyly, Gait disturbance, Scoliosis, ... ORPHA:220497
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Bulbar palsy, Tremor, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness OMIM:313200
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Generalized hypotonia, Tapered finger OMIM:618512
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypotonia, Myopathy, Scoliosis, Failure to thrive OMIM:618234
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Pancytopenia, Broad-based gait, Cachexia, Paralysis, Abnormality of t... ORPHA:2072
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis, ... ORPHA:449285
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Flared metaphysis, Hypoplastic pubic bone, Short long bone, Small epiphyses, Delayed ossification... ORPHA:93346
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... OMIM:253310
Geleophysic Dysplasia 1
Anteverted nares, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital femoral epiphysi... OMIM:231050
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Hypotonia, Scoliosis, Fai... ORPHA:370079
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Robinow Syndrome, Autosomal Recessive 1
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vertebral fusion, ... OMIM:268310
Microlissencephaly-Micromelia Syndrome
Short nose, Adducted thumb, Micromelia, Bilateral single transverse palmar creases ORPHA:50810
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614744
Cockayne Syndrome Type 2
Lower limb spasticity, Axial hypotonia, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, ... ORPHA:90322
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Talipes equinovarus, Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Broad nasal tip, Short toe, Wide nasal bridge, Delayed ossification of carpal bon... OMIM:239300
Classic Hodgkin Lymphoma
Splenomegaly, Ataxia, Weight loss ORPHA:391
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Smith-Mccort Dysplasia 1
Waddling gait, Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia o... OMIM:607326
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Delayed cranial suture closure,... OMIM:601812
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp... OMIM:113500
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Short neck, Coxa vara, Hypertonia, Wrist flexion contracture... ORPHA:800
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Bainbridge-Ropers Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un... OMIM:615485
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Preaxial hand polydactyly, Short ... OMIM:610536
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... OMIM:614749
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Infantile muscular hypotonia... ORPHA:512
Distal Duplication 5Q
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Hypoplasia of the... ORPHA:96097
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Poor head control, Scapular winging, Hyperlordosis, Proximal muscle weak... ORPHA:26791
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Coxa valga, Hammertoe, Hip dysplasia, Short nose, Acetabular dysplasia OMIM:619833
Dend Syndrome
Clinodactyly of the 4th finger, Short nose, Anteverted nares, Prominent metopic ridge ORPHA:79134
Smith-Magenis Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hand polydactyly, Cl... ORPHA:819
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Muscle weakness, Weight loss OMIM:188580
Arthrogryposis, Distal, Type 4
Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar ... OMIM:609128
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Foot joint contracture, Tremo... ORPHA:90321
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Depressed nasal bridge, Tapered finger, Underdeveloped nasal alae, De... OMIM:616007
Richards-Rundle Syndrome
Distal amyotrophy, Hypertonia, Ataxia, Gait disturbance ORPHA:1399
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Malan Syndrome
Long fingers, Short nose, Coxa valga OMIM:614753
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure... OMIM:234250
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Ataxia, Broad hallux, Proximal placement of thumb, Tapere... ORPHA:435638
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Poor head control, Axial hypotonia, Hypotonia, Cerebral atrophy, Infanti... OMIM:245400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Short palm, Cl... OMIM:217980
Baraitser-Winter Syndrome 1
Short nose, Anteverted nares, Wide nasal bridge, Duplication of phalanx of hallux OMIM:243310
Toluene Embryopathy
Short nose, Tapered finger ORPHA:1920
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Talipes equinovar... ORPHA:363528
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Ophthalmoplegia, Flexion contra... ORPHA:171430
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Osteoarthritis, Abnormal ossification... ORPHA:2114
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Wide nasal bridge, Cutaneous finger... OMIM:613026
Sponastrime Dysplasia
Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossifica... ORPHA:93357
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Talipes cavus equinovaru... OMIM:300966
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atrophy, Obesity, E... ORPHA:72
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Lynch Syndrome
Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Hy... ORPHA:144
Trisomy 20P
Finger syndactyly, Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, P... ORPHA:261318
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal stippling of toe phalanges, Abnormal ... ORPHA:79345
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Skeletal muscle atrophy, Tapered finger, Hyperlordosis, Foot acroosteoly... ORPHA:970
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Leukocytosis, Hypotonia, Weight loss, Hypsarrhythmia, Leukopenia, EE... ORPHA:20
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Generalized hypoto... OMIM:608776
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Rhabdomyosarcoma, Spinal cord compression, Atrophy of the spinal cord, P... ORPHA:35125
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... OMIM:620099
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Ataxia, Tremor, Thrombocytopenia, Metaphyseal sclerosis, Optic atrophy,... OMIM:612199
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Polydactyly, Short nose ORPHA:314655
Donnai-Barrow Syndrome
Umbilical hernia, Short nose, Depressed nasal bridge ORPHA:2143
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Paresthesia, Musc... ORPHA:3165
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp... ORPHA:15
Typhoid
Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy ORPHA:99745
Dpagt1-Cdg
Ataxia, Arachnodactyly, Akinesia, Infantile axial hypotonia, Tremor, Inability to walk, Flexion c... ORPHA:86309
Cockayne Syndrome
Skeletal muscle atrophy, Progressive gait ataxia, Hypertonia, Gliosis, Congenital contracture, In... ORPHA:191
Alpha-Mannosidosis
Bowing of the long bones, Short neck, Splenomegaly, Kyphosis, Hypotonia, Arthritis, Macroglossia,... ORPHA:61
Polymyositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Hypotonia, Weight loss, Arthritis, Ga... ORPHA:732
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Distal muscle weakness, Severe muscular hypotonia, Facial palsy, Hypopla... OMIM:254940
Gitelman Syndrome
Ataxia, Paralysis, Generalized muscle weakness, Rhabdomyolysis, Paresthesia, Chondrocalcinosis, F... OMIM:263800
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares, Rhizomelia,... ORPHA:50945
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... ORPHA:48818
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Anemia ORPHA:33355
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal ... ORPHA:2522
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
15Q24 Microdeletion Syndrome
Small for gestational age, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal... ORPHA:94065
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hyperlordosis, Kyphosis, Short toe, Obesity, Brachydactyly ORPHA:3085
Glutaryl-Coa Dehydrogenase Deficiency
Joint dislocation, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Severe muscu... ORPHA:25
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Neck muscle weakness, Mus... OMIM:614302
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Poor head control, Skeletal muscle atrophy, Ataxia, Optic ... OMIM:252010
Familial Colorectal Cancer Type X
Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Hy... ORPHA:440437
Intellectual Developmental Disorder, X-Linked 21
Short nose OMIM:300143
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Short neck, Gowers sign, Flexion contracture, Axial muscle weakness, Generali... OMIM:620369
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose ORPHA:284169
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kypho... ORPHA:3098
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae ORPHA:163961
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Single transverse palmar crease, Anteverted nares, Tapered finger, Short ... OMIM:608156
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Wide distal femoral m... OMIM:614856
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Pure red cell aplasia, Autoimmune thrombo... OMIM:613179
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bridge, Short nose, Low hangi... OMIM:615803
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand... OMIM:102500
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Clinodactyly, 4-5 finger syndac... OMIM:164200
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Arachnodactyly, Hypotonia, Scoliosis ORPHA:1548
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equi... ORPHA:1358
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, EEG abnormality, Scoliosis, Short distal phalanx of finger, Brachydactyly ORPHA:1858
Down Syndrome
Brachydactyly, Depressed nasal bridge, Sandal gap, Depressed nasal ridge, Clinodactyly of the 5th... ORPHA:870
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Short nose, Clinodactyly of the 4th toe, Clinodactyly of... OMIM:614225
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Limb joint contracture, Tremor... OMIM:620327
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Kyphosi... ORPHA:3219
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Becker Muscular Dystrophy
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking, Muscle weakness ORPHA:98895
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Intellectual Developmental Disorder, Autosomal Dominant 1
Sandal gap, Prominent nose, Bulbous nose, Depressed nasal ridge, Short foot, Hip dysplasia, Short... OMIM:156200
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... ORPHA:314404
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Apl... ORPHA:476126
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Wide nasal bridge, Tapered finger OMIM:620250
Giant Cell Arteritis
Ataxia, Optic atrophy, Ophthalmoparesis, Weight loss, Arthritis, Paresthesia, Muscle weakness ORPHA:397
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thro... OMIM:209950
Distal Deletion 9P
Short nose, Wide nasal bridge, Brachydactyly ORPHA:1642
Cleft Palate-Large Ears-Small Head Syndrome
Hypotonia, Short distal phalanx of finger, Skeletal muscle atrophy, Ulnar deviation of finger ORPHA:2013
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Advanced oss... OMIM:615349
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia... OMIM:146510
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Worm... OMIM:608612
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphol... ORPHA:536471
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis ORPHA:1545
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Proximal muscle weakness, Hypotonia, Spina bifida occulta, Muscle weakness ORPHA:230839
3C Syndrome
Finger syndactyly, Depressed nasal bridge, Wide nasal bridge, Hand polydactyly, Abnormal hip bone... ORPHA:7
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys... ORPHA:2828
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Skeletal muscle atrophy, Short femur, Unsteady gait, Flexion contracture, Ragged-r... ORPHA:17
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Wide n... ORPHA:251071
Erythrokeratodermia Variabilis
Tapered finger, Brachydactyly, Weight loss ORPHA:317
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Narrow pelvis bone, Hammertoe, Talipes equinovarus... OMIM:608022
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertonia, Axial hypotonia, Opisthotonus OMIM:616896
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Poor head control, Lower limb spasticity, Axi... OMIM:615846
Insulinoma
Tremor, Generalized muscle weakness, Increased body weight, Paresthesia, Abnormality of pain sens... ORPHA:97279
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, EEG abnormality, Myopathy, Gait disturbance, Generalized hypotonia ORPHA:85329
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... OMIM:615761
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Long nose, Camptodactyly, Clinodactyly of the 5th finger, Short nose,... OMIM:617602
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Ulnar deviation of the hand, Limb joint contracture, Kyphoscoliosis, Upp... OMIM:612079
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Short nose, Anteverted nares, Craniosynostosis OMIM:601853
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Obesity, Abnorma... OMIM:614947
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Clubbing of toes, Weight loss ORPHA:2198
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Generalized hypotonia, Prominent f... OMIM:277590
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Short nose ORPHA:79113
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Alternating Hemiplegia Of Childhood
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... ORPHA:2131
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal... ORPHA:364577
Farber Disease
Abnormality of the knee, Skeletal muscle atrophy, Abnormality of the wrist, Thrombocytopenia, Par... ORPHA:333
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Axial hypotonia, Short neck, Babinski sign, Hypotonia, Cerebral atrophy,... OMIM:615802
Kennedy Disease
Skeletal muscle atrophy, Gait disturbance, Hypotonia ORPHA:481
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Osteolytic defects of t... ORPHA:90154
Kanzaki Disease
Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneration, Cerebral atrophy, Dist... OMIM:609242
Ring Chromosome 10 Syndrome
Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Short neck, Hypotonia ORPHA:1438
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Talipes equinovarus, Metatarsu... ORPHA:261236
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, M... OMIM:227330
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Clinodactyly, Short nose ORPHA:357001
Foxg1 Syndrome Due To 14Q12 Microdeletion
Prominent metopic ridge, Bulbous nose, Depressed nasal bridge, Short nose ORPHA:261144
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Long toe, Short metacarpal, Hallux valgus, Anteverted nares, Single transver... OMIM:601358
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Overlapping toe, Wide nasal bridge, Short nose OMIM:618571
Thymic Carcinoma
Fatigable weakness, Diaphragmatic paralysis, Weight loss ORPHA:99868
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Craniosynostosis, Tremor, EEG wit... ORPHA:2203
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Anteverted nares... ORPHA:1507
Walker-Warburg Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Optic atrophy, Abnormality of neuronal migra... ORPHA:899
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal... ORPHA:773
Luscan-Lumish Syndrome
Long nose, Advanced ossification of carpal bones OMIM:616831
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Metaphyseal sclerosis, Weight loss... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Hypotonia, Dysmetria, Thromboc... OMIM:212065
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Ankle clonus, Lambdoidal cranio... OMIM:615398
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Ataxia, Incoor... OMIM:601992
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... ORPHA:2438
Waardenburg Syndrome Type 1
Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Short nose ORPHA:894
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... OMIM:180870
Lowry-Maclean Syndrome
Choanal atresia, Single transverse palmar crease, Craniosynostosis, Widely patent coronal suture,... ORPHA:2409
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal alae, Patellar aplasia... OMIM:616835
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Eosinophilia, Hemiplegia/hemiparesis, Weight loss, Central nervous system degeneration,... ORPHA:183
Whipple Disease
Myositis, Ataxia, Cachexia, Splenomegaly, Abnormal pyramidal sign, Anemia, Arthritis, Myoclonus, ... ORPHA:3452
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Poor head control, Axial hypotonia, Small for gestatio... OMIM:617799
Becker Nevus Syndrome
Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta, Shoulder girdle... ORPHA:64755
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Tapered finger,... OMIM:613458
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Weight loss ORPHA:100024
Igg4-Related Pachymeningitis
Low back pain, Somatic sensory dysfunction, Eosinophilia, Lower limb muscle weakness, Abnormal sp... ORPHA:449427
Muenke Syndrome
Tarsal synostosis, Short foot, Cone-shaped epiphysis, Short palm, Carpal synostosis, Coronal cran... ORPHA:53271
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Joubert Syndrome With Hepatic Defect
Ataxia, Tremor, Splenomegaly, Postaxial hand polydactyly, Optic disc coloboma, Abnormality of neu... ORPHA:1454
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss ORPHA:86893
Kleefstra Syndrome 2
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis OMIM:617768
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss ORPHA:1164
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Bowing of the long bones, Arachnodactyly, Depressed nasal bridge, Anteverted nares... ORPHA:536467
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Megalocornea-Intellectual Disability Syndrome
Ataxia, Tapered finger, Kyphosis, Hypotonia, EEG abnormality, Scoliosis, Metatarsus valgus, Genu ... ORPHA:2479
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Single transverse palmar crease, Rhizomelia, Craniosynostosis, Bulbous no... OMIM:614114
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Short nose, Delayed cranial suture... OMIM:613038
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Hirschsprung Disease
Adducted thumb, Aganglionic megacolon, Failure to thrive in infancy, Weight loss ORPHA:388
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca... OMIM:271640
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia OMIM:616455
Neu-Laxova Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormal cortical... ORPHA:2671
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Abnormal joint morphology, Fasciculations, Muscle weakness ORPHA:2942
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Depressed nasal bridge, Ankle flexion contracture OMIM:617802
Tetrasomy 12P
Short nose, Anteverted nares ORPHA:884
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... OMIM:178110
Mucopolysaccharidosis, Type Ii
Papilledema, Short neck, Kyphosis, Splenomegaly, Split hand, Flexion contracture, Hepatosplenomeg... OMIM:309900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... ORPHA:371428
Emanuel Syndrome
Sacral dimple, Torticollis, Congenital hip dislocation, Congenital diaphragmatic hernia, Kyphosis... OMIM:609029
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Camptodactyly, Mesomelia... OMIM:616894
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressiv... OMIM:208900
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Muscle weakness, Scoliosis OMIM:615704
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Multifocal epileptiform discharges, Hypotonia, Cerebral atrophy, Failure... OMIM:614300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... OMIM:143095
Micro Syndrome
Kyphosis, Optic atrophy, Hypotonia, Lissencephaly, Scoliosis, Spasticity, Pachygyria, Cerebral co... ORPHA:2510
Beta-Ketothiolase Deficiency
Ataxia, Leukocytosis, Hypotonia, Weight loss, Extrapyramidal dyskinesia, Thrombocytosis, Spasticity ORPHA:134
Takayasu Arteritis
Arthritis, Muscle weakness, Anemia, Weight loss ORPHA:3287
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypotonia, Hypoplastic vertebral bodi... OMIM:230500
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Inability to walk, Kyphosis, Clinodactyly, Deviation of the 2... ORPHA:464738
Clark-Baraitser syndrome
Genu recurvatum, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm OMIM:300602
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytopenia, Paralysis ORPHA:83601
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Short foot, Abnormal diap... ORPHA:3409
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Hypotonia, Gray matter heterotopia, P... ORPHA:2655
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Miller-Dieker Lissencephaly Syndrome
Anteverted nares, Single transverse palmar crease, Wide nasal bridge, Deep palmar crease, Polydac... OMIM:247200
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spi... ORPHA:582
Cockayne Syndrome A
Cerebellar atrophy, Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory e... OMIM:216400
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Horizontal sacrum, Fibular bowing, Scol... OMIM:112350
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Cold paresis, Neonatal hypotonia, EMG: myopathic abnormalities, Period... ORPHA:684
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis ORPHA:79327
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Hypotonia, Weight loss OMIM:143880
Focal Myositis
Myositis, Muscle weakness, Weight loss ORPHA:48918
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Osteoarthritis, Wide nasal bridge, Genu valgum, Short nose ORPHA:560
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Abnormal spinal cord morphology ORPHA:494
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, S... OMIM:601353
Marshall-Smith Syndrome
Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Hypertonia, Thoracic kyphosis, Cer... OMIM:602535
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Tapered finger, Wide nasal bridge, Short columella, Talipes equinovarus, Short nose OMIM:613603
Cardiospondylocarpofacial Syndrome
Brachydactyly, Synostosis of carpal bones, Short palm ORPHA:3238
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Ataxia, Tremor, Central Y-shaped metacarpal, Preaxial polydact... ORPHA:2754
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Postaxial polydactyly, Kyphosis, Kn... OMIM:603387
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss ORPHA:178029
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Failure to thrive, Frog-leg posture, Generalized hypotonia OMIM:618603
Pseudohypoaldosteronism Type 2
Muscle weakness, Periodic paralysis ORPHA:757
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dy... ORPHA:646
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Depressed nasal bridge, Anteverted nares, Single... ORPHA:264450
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Femoral retroversion, Micromelia, Kyphosis, Macroglossia, Scoliosis ORPHA:79107
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Skeletal muscle atrophy, Camptodactyly of finger, Multiple pterygia, Aplasia/H... ORPHA:2990
Alveolar Echinococcosis
Low back pain, Liver abscess, Ataxia, Eosinophilia, Weight loss, Hemiparesis, Abnormal skeletal m... ORPHA:284
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Intention tremor, Atax... OMIM:619475
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Spastic paraplegia, Dystonia OMIM:105300
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Limb undergrowth, Short nose, Hip dislocation, Wide nasal bridge OMIM:618005
Au-Kline Syndrome
Prominent metopic ridge, Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdevelope... OMIM:616580
Lathosterolosis
Prominent metopic ridge, Toe syndactyly, Anteverted nares, Bulbous nose, Postaxial hand polydacty... ORPHA:46059
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Single transverse palm... OMIM:269150
Renpenning Syndrome
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Abnormal thumb morphology, Cachexia ORPHA:3242
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Cachexia ORPHA:1144
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Brachydactyly, Anteverted nares, Overlapping toe, Broad nasal tip, Prominent... ORPHA:177907
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Clinodactyly of the 5th toe, Periodic paralysis, Small hand, 2-3... ORPHA:37553
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Cl... ORPHA:137834
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Wide nose, Depressed nasal bridge, Bulbous nose, Flared metaphysis, Advanced ossification of carp... OMIM:610442
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Short nose, Ankle clonus OMIM:614222
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Ataxia, Arachnodactyly, Short hallux, Congenital diaphragmatic hern... ORPHA:280
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Metatarsus adductus, H... OMIM:253220
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Hypoesthesia, Ragged-red ... OMIM:603041
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:614207
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Short foot, ... ORPHA:1974
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... ORPHA:507
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Anteverted nares, Tapered finger, Coxa valga, Talipes equinovarus, Radial... OMIM:301040
Codas Syndrome
Short humerus, Short metacarpal, Metaphyseal dysplasia, Depressed nasal bridge, Anteverted nares,... OMIM:600373
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Ophthalmo... ORPHA:3068
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramida... ORPHA:51
Trisomy 10P
Thumb contracture, Wide cranial sutures, Depressed nasal bridge, Anteverted nares, Abnormality of... ORPHA:171929
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Bilateral talipes equinovarus, Short nose... OMIM:602398
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Hypotonia, Hepatosplenomegaly, Generalized hypotonia, Arthrogryposis mul... OMIM:232500
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Short nose, Depressed nasal bridge, Abnormal fibula morphology ORPHA:1812
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Splenomegaly, ... ORPHA:465508
Fucosidosis
Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Hypotonia, Anterio... ORPHA:349
Cockayne Syndrome B
Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Abnormal peripheral myeli... OMIM:133540
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Peho Syndrome
Short nose, Anteverted nares, Tapered finger ORPHA:2836
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Trisomy 17P
Skeletal muscle atrophy, Prominent metopic ridge, Short neck, Tapered finger, Flexion contracture... ORPHA:261290
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Hypotonia, Scoliosis OMIM:300676
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares, Metopic synostosis OMIM:613735
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact... ORPHA:3103
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Abnormality of neuronal migration, Hypotonia, Platyspondyly, Abnormal metap... ORPHA:93274
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Short nose OMIM:242860
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Hypotonia, Hypertonia, Brain ... OMIM:616539
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Abnormal skeletal muscle morphology, Weight loss ORPHA:142
Pycnodysostosis
Persistent open anterior fontanelle, Brachydactyly, Rhizomelia, Delayed cranial suture closure, H... ORPHA:763
Andersen Cardiodysrhythmic Periodic Paralysis
Short metacarpal, Toe syndactyly, Scapular winging, Periodic paralysis, Short metatarsal, Small h... OMIM:170390
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
Developmental Delay With Or Without Dysmorphic Facies And Autism
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Bulbous nose, 2-3 toe cutaneous... OMIM:618454
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Severe muscular hypotonia, Flexion contracture, Abnormal muscle glycogen... ORPHA:367
Lateral Meningocele Syndrome
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the ver... ORPHA:2789
Cohen Syndrome
Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Tapered finger, Kyph... ORPHA:193
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Tremor, Rhabdomyolysis, Optic atrophy, Hypotonia, Generalized hypotonia... OMIM:610505
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis... ORPHA:1860
Majeed Syndrome
Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contracture, Hypochr... ORPHA:77297
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abn... ORPHA:85408
Mucolipidosis Iii Gamma
Hyperlordosis, Flat capital femoral epiphysis, Kyphosis, Short neck, Genu valgum, Scoliosis OMIM:252605
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Tethered cord, Short neck, Kyphosis, Hypotonia, Dural ec... OMIM:130720
Robinow Syndrome, Autosomal Dominant 1
Limited elbow extension and supination, Brachydactyly, Broad toe, Depressed nasal bridge, Antever... OMIM:180700
Pfapa Syndrome
Splenomegaly, Arthritis, Weight loss ORPHA:42642
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Small hand, Hypotonia, Short foot, Gait disturbance, S... ORPHA:500055
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Muscle weakness, Anemia ORPHA:371
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Aganglionic megacolon, Kyphosis, Obesity, Neonatal hypotonia ORPHA:261222
Native American Myopathy
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Hypotonia,... ORPHA:168572
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Short nose, Prominent nasal bridge, Tapered finger ORPHA:65286
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Weight loss, Arthritis, Scoliosis, Abnormal metaphysis morp... ORPHA:324964
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hypertonia, Ataxia ORPHA:31
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Pterygium, Underdeveloped nasal alae, Absent ... OMIM:263650
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Weight loss, Anemia, Arthritis, Neutropenia, Failure to th... ORPHA:47
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly... ORPHA:3107
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Oculomotor apraxia, Skeletal muscle atrophy, Hypotonia OMIM:619759
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Clonus, Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than ... OMIM:619424
Mucolipidosis Ii Alpha/Beta
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Coxa valga, Hip... OMIM:252500
Oculocerebral Hypopigmentation Syndrome, Cross Type
Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Short nose ORPHA:2719
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d... ORPHA:2311
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Single transverse palmar cr... OMIM:244450
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
Mulibrey Nanism
Cachexia ORPHA:2576
Prolidase Deficiency
Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:170100
Cono-Spondylar Dysplasia
Short humerus, Short neck, Kyphosis, Poor coordination, Hypotonia, Cone-shaped epiphyses of the p... ORPHA:420794
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... ORPHA:98850
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Short sternum, Umbilical hernia, Short nose OMIM:222448
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Obesity,... ORPHA:254346
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia of the capital femor... OMIM:313400
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Prominent metopic ridge, Ataxia, Hypotonia, Weight loss, Lower-limb... ORPHA:99885
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Cerebrooculonasal Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Cranio... OMIM:605627
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Axial hypotonia, Diastasis recti, Craniosynostosis, Lim... ORPHA:576
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Flexion contracture, Hypotonia ORPHA:75496
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Flexion contracture of finger, Small for gestational age, Ankle flexion contra... ORPHA:464311
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Muscle weakness, Paralysis OMIM:176000
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Wiedemann-Steiner Syndrome
Rhizomelia, Abnormality of the hand, Tapered finger, Abnormality of the elbow, Wide nasal bridge,... ORPHA:319182
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Neck flexor weakness, Foot dorsiflexor weakness, Abnormality of the tong... ORPHA:273
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Optic atrophy, Ataxia, Cachexia ORPHA:220295
Trisomy 18
Choanal atresia, Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, ... ORPHA:3380
Arterial Tortuosity Syndrome
Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo... ORPHA:3342
Felty Syndrome
Splenomegaly, Abnormal joint morphology, Synovitis, Weight loss, Anemia, Arthritis, Neutropenia, ... ORPHA:47612
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Hypotonia... OMIM:617011
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Nemaline bodies, Abnormality of skeletal muscle fibe... OMIM:620278
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Hypotonia, Myopathy, Muscle weakness OMIM:615511
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Palmoplantar keratoderma, Recurrent sinusitis,... OMIM:604173
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Hypotonia... OMIM:614080
Sézary Syndrome
Tremor, Splenomegaly, Abnormal lymphocyte morphology, Skeletal muscle atrophy ORPHA:3162
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Cerebral palsy, Hypotonia, Opisthotonus, Generalized hypotonia, Lethargy... OMIM:210210
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Bo... ORPHA:1855
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Prominent nasal bridge, Wide nasal bridge OMIM:619179
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Increased femoral anteversio... OMIM:619005
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... OMIM:200990
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Ab... ORPHA:666
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Hypotonia, Proximal placement of thumb OMIM:615433
Moynahan Syndrome
Cachexia ORPHA:2574
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Hypot... ORPHA:314588
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Optic atrophy, Hypotonia, Ectrodactyly, Scoliosis ORPHA:3378
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive OMIM:212750
Osteosarcoma
Abnormal femoral metaphysis morphology, Weight loss, Joint swelling, Abnormal tibial metaphysis m... ORPHA:668
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Anteverted nares, Overlappi... OMIM:213980
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Abnormal diaphysis morphology, Progressive flexion contractures ORPHA:2028
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Congenital hip dislocation, Anteverted nares OMIM:219200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Skeletal muscle atrophy, Arachnodactyly, Camptodactyl... ORPHA:2215
Follicular Lymphoma
Splenomegaly, Weight loss ORPHA:545
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Hand muscle atrophy, Calcaneovalgus deformity, Interictal epileptiform activit... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Hand muscle atrophy, Calcaneovalgus deformity, Interictal epileptiform activit... ORPHA:363958
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Postaxial hand po... ORPHA:2916
Musculocontractural Ehlers-Danlos Syndrome
Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Tapered finger, Prominen... ORPHA:2953
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Weight loss, Joint swelling, Digital flexor tenosynovi... OMIM:180300
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Short lower limbs OMIM:259440
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Anteverted nares, Single tr... OMIM:303600
Raine Syndrome
Bowing of the long bones, Depressed nasal bridge, Choanal atresia, Micromelia, Choanal stenosis, ... OMIM:259775
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Anteverted nares, Choanal stenosis, Short nose ORPHA:1790
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Ataxia, Facial palsy, Abnormal spinal cord morphology, Hemiparesis, Granulom... ORPHA:68
Alg9-Cdg
Hitchhiker thumb, Ulnar deviation of the hand, Depressed nasal bridge, Rhizomelia, Prominent meto... ORPHA:79328
Desmosterolosis
Depressed nasal bridge, Micromelia, Abnormality of the nose, Metatarsus adductus, Short nose ORPHA:35107
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Splenomegaly, Lethargy, Failure to thrive OMIM:201100
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Graves Disease, Susceptibility To, 1
Muscle weakness, Weight loss OMIM:275000
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Slender long bone, Short nose, Depressed nasal bridge OMIM:618590
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Progressive spastic paraplegia ORPHA:2821
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Progressive spasticity, Hypoplasia of the mus... ORPHA:85323
Geleophysic Dysplasia 2
Short foot, Short nose, Cone-shaped epiphysis, Short palm OMIM:614185
Acute Intermittent Porphyria
Back pain, Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Distal muscle we... ORPHA:79276
Congenital Disorder Of Glycosylation, Type Iio
Splenomegaly, Skeletal muscle atrophy, Generalized hypotonia, Hepatosplenomegaly OMIM:616828
Toriello-Lacassie-Droste Syndrome
Short nose, Anteverted nares, Brachydactyly, Short palm ORPHA:3339
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypotonia, Skeletal muscle atrophy, Hemiplegia/hemiparesis ORPHA:156
Marden-Walker Syndrome
Decreased muscle mass, Arachnodactyly, Short neck, Kyphosis, Hypotonia, Radioulnar synostosis, Co... OMIM:248700
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis, Pl... OMIM:108300
Hyperkalemic Periodic Paralysis
Episodic flaccid weakness, Periodic hyperkalemic paralysis OMIM:170500
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Wormian bones,... ORPHA:2771
Leprosy
Skeletal muscle atrophy, Autoamputation of digits, Impaired temperature sensation, Dysesthesia, D... ORPHA:548
Aymé-Gripp Syndrome
Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered fi... ORPHA:1272
Prader-Willi Syndrome
Syndactyly, Neonatal hypotonia, Decreased muscle mass, Failure to thrive in infancy, Impaired pai... OMIM:176270
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Skeletal muscle atrophy ORPHA:3239
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... ORPHA:2616
Rift Valley Fever
Back pain, Paralysis, Paraparesis, Anemia, Hemiparesis, Muscle weakness, Decerebrate rigidity, Th... ORPHA:319251
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Wide nasal bridge, Mesomelia, Short nose, Hip su... OMIM:613457
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Bulbous nose, ... OMIM:115150
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose ORPHA:280200
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones ORPHA:3191
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Large for gestational age... ORPHA:457359
Multiple Myeloma
Spinal cord compression, Splenomegaly, Generalized muscle weakness, Weight loss, Paresthesia, Ver... ORPHA:29073
Melorheostosis
Arthritis, Failure to thrive, Skeletal muscle atrophy ORPHA:2485
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Sandal gap, Cachexia, Obesity, Generalized n... ORPHA:813
Ayme-Gripp Syndrome
Depressed nasal bridge, Tapered finger, Wide nasal bridge, Radioulnar synostosis, Camptodactyly, ... OMIM:601088
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Wide nose, Short nose, Adducted thumb OMIM:608779
Lathosterolosis
Toe syndactyly, Anteverted nares, Postaxial hand polydactyly, Myelomeningocele, Wide nasal bridge... OMIM:607330
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta, Hypoplasia o... OMIM:218600
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose OMIM:615851
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Narrow nose, Broad hallux, Tapered finger, 1-2 toe syndactyly,... OMIM:301044
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Short nose, Postaxial hand polydactyly, Micromelia OMIM:200995
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Spina bifida, Short to... ORPHA:2308
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Br... ORPHA:97360
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Depressed nasal bridge, Short thumb, Small hand, Short foot, Talipes ... OMIM:268400
Inhalational Botulism
Muscle weakness, Paralysis ORPHA:254504
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Genu valgum, Deep palmar c... ORPHA:1340
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Optic disc pallor, Toe syndactyly, Small for gestational age, Arachnodactyly, Mult... ORPHA:464306
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
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Muscle weakness, Neutropenia, Thromb... ORPHA:520
X-Linked Intellectual Disability, Snyder Type
Long toe, Decreased muscle mass, Arachnodactyly, Involuntary movements, Kyphoscoliosis, Inability... ORPHA:3063
Shashi-Pena Syndrome
Short metacarpal, Kyphosis, Hypotonia, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia OMIM:617190
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta... OMIM:619951
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic a... ORPHA:514
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Single transverse palmar crease, Small hand, Wide nasal... ORPHA:1449
Hurler Syndrome
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... OMIM:607014
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Hypotonia, Myopathy... OMIM:162300
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Eosinophilia, Weight loss, Letharg... ORPHA:199299
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Hallux valgus, Neonatal hypotonia, Axial hypotonia, Ataxia, Kyphoscoliosis, Tremo... OMIM:300967
Pleural Mesothelioma
Weight loss ORPHA:50251
Thymoma
Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, R... ORPHA:99867
Fetal Alcohol Syndrome
Short nose, Anteverted nares ORPHA:1915
Polyarteritis Nodosa
Polyneuritis, Sensory axonal neuropathy, Weight loss ORPHA:767
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n... ORPHA:357074
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Kyphosis,... ORPHA:958
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, 2-3 toe syndactyly, Cerebral atrophy, Hypotonia, Scoliosis, Spasticity OMIM:616449
Chops Syndrome
Cervical C2/C3 vertebral fusion, Short nose, Anteverted nares, Brachydactyly OMIM:616368
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Skeletal muscle atrophy, Facia... ORPHA:570
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Poor head control, Kyphoscoliosis, Atlantoaxial instabili... OMIM:614557
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Wide nose, Choanal atresia, Micromelia, Camptodactyly of fi... ORPHA:2753
Brucellosis
Liver abscess, Lung abscess, Small for gestational age, Abnormality of the peripheral nervous sys... ORPHA:1304
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy, Rocker bottom foot ORPHA:85283
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Vertebral fusion, Toe syndactyly, Anteverted nares, Camptodactyly of finger, S... ORPHA:373
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Genu valgum, Macroglossia, Abnormal m... ORPHA:583
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Congenital hip dislocation, Contracture of the proximal interphalangeal joint of the ... ORPHA:457279
Coffin-Siris Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Clinodactyly, Recurrent upper respirat... ORPHA:1465
Wilson Disease
Hemolytic anemia, Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Hypoest... OMIM:277900
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... ORPHA:330001
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormality of the elbow, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, K... ORPHA:536545
Macrocephaly/Autism Syndrome
Short nose, Depressed nasal bridge OMIM:605309
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Hypotonia, Scoliosis ORPHA:2058
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Small for gestational age, Kyphosis, Hy... OMIM:610443
Holt-Oram Syndrome
Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Split hand, Aplasia/Hypopl... ORPHA:392
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, ... ORPHA:536532
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
7Q31 Microdeletion Syndrome
Speech apraxia, Skeletal muscle atrophy, Torticollis, Axial hypotonia, Clinodactyly of the 2nd fi... ORPHA:251061
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Clubbing, Anemia, Clubbing of fingers, Paresthesia, Muscle weakness OMIM:175500
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Overlapping toe, Craniosynostosis, Broad nasal tip, Tapered finger, Bulbo... OMIM:309590
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Bowing of the long bones, Micromelia, Hyperlordosis, Short n... ORPHA:1798
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss ORPHA:2221
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Underdeveloped nasal... OMIM:618332
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Short neck, Absent radius, Preaxial han... ORPHA:233
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Hypotonia, Hypsarrhythmia, ... ORPHA:79329
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Kyphosis, Long... ORPHA:401973
Harrod Syndrome
Arachnodactyly, Kyphosis, Scoliosis, Failure to thrive, Cerebral cortical atrophy ORPHA:2115
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Prominent nasal tip, Short ... ORPHA:522077
Combined Oxidative Phosphorylation Deficiency 55
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Proximal muscle weakness, Hypotoni... OMIM:619743
Ichthyosis, Congenital, Autosomal Recessive 2
Short toe, Short finger, Paralysis OMIM:242100
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Underdeveloped nasal alae ORPHA:2315
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short... OMIM:617157
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares OMIM:234050
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Prominent nasal bridge, Wide nasal bridge, Broad nasal tip OMIM:300749
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... OMIM:112250
Schinzel-Giedion Syndrome
Short neck, Vocal cord paralysis, Tibial bowing, Hypertonia, Myeloid leukemia, Ependymoma, Hypsar... ORPHA:798
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Aredyld Syndrome
Splenomegaly, Cachexia, Scoliosis, Brachydactyly ORPHA:1133
Cadds
Short nose ORPHA:369942
Congenital Tufting Enteropathy
Arthritis, Failure to thrive, Optic disc coloboma, Weight loss ORPHA:92050
Kleefstra Syndrome
Short nose, Anteverted nares, Talipes equinovarus ORPHA:261494
Riddle Syndrome
Ataxia, Clumsiness, Weight loss, Arthritis, Gait disturbance, Poor hand-eye coordination ORPHA:420741
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Clinodactyly of the 5th ... ORPHA:1519
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Tapered finger, Short toe, Hypotonia, Truncal obesity, Camptodactyly of toe ORPHA:127
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose ORPHA:329178
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Cachexia, Weight loss ORPHA:1979
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Proximal muscle weakness in lower limbs, Myositis, Skeletal muscle atrophy ORPHA:565899
Xfe Progeroid Syndrome
Cachexia, Poor coordination, Optic atrophy, Scoliosis, Failure to thrive OMIM:610965
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Hypotonia, Fu... ORPHA:1724
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Anemia, Tapered finger ORPHA:2930
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:255995
Witteveen-Kolk Syndrome
Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Depre... OMIM:613406
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Hypotonia, Postaxial foot polydactyly, Scoli... ORPHA:404440
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Long... OMIM:616914
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresia, Abnormali... ORPHA:261112
Helsmoortel-Van Der Aa Syndrome
Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Tapered finger, Small hand, Wide nas... OMIM:615873
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral ... ORPHA:1005
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Periventricular heterotopia, Kyphosis, Incre... ORPHA:261250
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Kyphosis, Flexion contracture, Small hand, Increased body weight,... ORPHA:398069
Monosomy 9Q22.3
Palmar pits, Polydactyly, Metopic synostosis, Umbilical hernia, Short nose ORPHA:77301
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Abdominal wall muscle weakness, Cachexia, Hypotonia, Myopathy, Scoliosis... ORPHA:109
Listeriosis
Back pain, Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Abscess, Tremor, Rh... ORPHA:533
Primary Sjögren Syndrome
Normocytic anemia, Somatic sensory dysfunction, Myositis, Abnormality of the peripheral nervous s... ORPHA:289390
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Abnormality of the spleen, Hemiplegia/hemiparesis, Optic atrop... ORPHA:1606
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Clinodactyly of the 5th finger, Short nose, Brachydactyly OMIM:147791
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Finger syndactyly, Hypoplasia of the ulna, Toe syndac... ORPHA:84
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, Scolios... ORPHA:568
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Short sternum, Short nose OMIM:257300
Erdheim-Chester Disease
Ataxia, Weight loss, Joint swelling, Abnormal metaphysis morphology, Anemia ORPHA:35687
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,... ORPHA:1344
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Corpus callosum atrophy, Kyphosis, Hypotonia, Simplified gyral pattern, Cerebral atrophy OMIM:619244
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Bowing of the long bones, Kyphosis, Hypotonia, Lateral femoral bowing, Failure to ... OMIM:239000
Al Amyloidosis
Howell-Jolly bodies, Weight loss, Macroglossia, Abnormal autonomic nervous system physiology, Pos... ORPHA:85443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anteverted nares, Proportionate shortening of all digits, Tapered finger, Small hand, Short foot,... ORPHA:280633
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Elbow flexion contracture, Decreased body weigh... OMIM:616200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Proximal muscle weakness, Splenomegaly, Leukocytosis, Muscle weakness, S... OMIM:615895
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Gabriele-De Vries Syndrome
Waddling gait, Hallux valgus, Distal lower limb amyotrophy, Small for gestational age, Sandal gap... ORPHA:506358
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Muscle weakness OMIM:608390
Cystic Echinococcosis
Eosinophilia, Abscess, Weight loss, Abnormality of the vertebral column, Splenic cyst, Abnormalit... ORPHA:400
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
C Syndrome
Joint dislocation, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromelia, Bilatera... ORPHA:1308
Igg4-Related Aortitis
Low back pain, Hypereosinophilia, Weight loss ORPHA:449400
Ogden Syndrome
Prominent metopic ridge, Congenital hip dislocation, Depressed nasal bridge, Sandal gap, Broad ha... OMIM:300855
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Tibial bowing, Scoliosis, Wormian bones, Biconcave vertebral bodies OMIM:259420
Idiopathic Bronchiectasis
Clubbing, Cachexia ORPHA:60033
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Umbilical h... OMIM:230740
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Secondary Short Bowel Syndrome
Failure to thrive, Aganglionic megacolon, Weight loss ORPHA:95427
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Glioma, Cachexia, Short n... ORPHA:647
Khan-Khan-Katsanis Syndrome
Clinodactyly, Delayed closure of the anterior fontanelle, Short nose, Postaxial polydactyly OMIM:618460
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short middle phalanx of finger, Clinodactyly of the 5th finger, Short nos... OMIM:301030
Ctcf-Related Neurodevelopmental Disorder
Broad hallux phalanx, Anteverted nares, Single transverse palmar crease, Sandal gap, Broad nasal ... ORPHA:363611
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Cachexia, Toe clinodactyly, Clinod... ORPHA:217346
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Anteverted nares ORPHA:96147
Noonan Syndrome 14
Scapular winging, Short neck, Kyphosis, Hypotonia, Cubitus valgus, Clinodactyly, Lymphopenia, Lim... OMIM:619745
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Cachexia, Kyphos... ORPHA:828
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... ORPHA:99646
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Cole-Carpenter Syndrome 2
Wide cranial sutures, Kyphosis, Hypotonia, Platyspondyly, Lambdoidal craniosynostosis, Wormian bo... OMIM:616294
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia, Weight loss ORPHA:2070
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Anteverted nares, Single transverse palmar crease, Broad nasal tip, Long nose, Tapered... OMIM:619522
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Short nose OMIM:608013
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, Kyphosis, Contracture of the distal... OMIM:607015
Behçet Disease
Myositis, Ataxia, Splenomegaly, Abnormal pyramidal sign, Weight loss, Hemiparesis, Arthritis, Par... ORPHA:117
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Weight loss ORPHA:2902
Marfan Syndrome
Skeletal muscle atrophy, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Cachexia, Lim... ORPHA:558
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Dysmetria, Clinodactyly, Anemia OMIM:620185
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomeg... OMIM:259730
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Wolman Disease
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells ORPHA:75233
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Peroxisome Biogenesis Disorder 4B
Short nose, Single transverse palmar crease OMIM:614863
Desmoplastic Small Round Cell Tumor
Cachexia, Anemia, Weight loss ORPHA:83469
Pallister-Hall Syndrome
Depressed nasal ridge, Mesoaxial polydactyly, Radial bowing, Anteverted nares, Umbilical hernia, ... ORPHA:672
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Genu varum ORPHA:1969
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Depressed nasal bridge, Convex nasal ridge, Gout OMIM:300661
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis OMIM:609008
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Femoral bowing, Tibial bowing, Platysp... OMIM:616482
Holoprosencephaly 7
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... OMIM:610828
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Abnormal form of the ve... ORPHA:818
Cornelia De Lange Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Micromelia, Abnormal m... ORPHA:199
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Cerebrofaciothoracic Dysplasia
Wide nose, Short nose ORPHA:1394
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Clubbing, Weight loss ORPHA:79127
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur... OMIM:619194
Graft Versus Host Disease
Skeletal muscle atrophy, Dupuytren contracture, Myositis, Limited elbow movement, Hepatosplenomeg... ORPHA:39812
Cole-Carpenter Syndrome
Bowing of the long bones, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, ... ORPHA:2050
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Generalized hypotonia, Accessory sp... OMIM:194190
Bardet-Biedl Syndrome
Finger syndactyly, Skeletal muscle atrophy, Short neck, Postaxial hand polydactyly, Obesity ORPHA:110
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hip dysplasia, Metopic synos... OMIM:619426
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl... ORPHA:955
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Gout, Iron deficiency anemia, Paresthesia, Chondrocalcinosis, Failure ... ORPHA:358
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Skeletal muscle atrophy, Myositis, Leukopenia, Thrombocytosis, Failure to thrive, An... OMIM:615934
Distal Renal Tubular Acidosis
Hemolytic anemia, Paralysis, Respiratory insufficiency due to muscle weakness, Failure to thrive,... ORPHA:18
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... OMIM:219090
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia ORPHA:54251
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Somatic sensory dysfunction, Neutrophilia, Swelling of proximal interpha... ORPHA:3260
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h... OMIM:614162
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Depressed nasal bridge, Anteverted nares, Wide nasal br... OMIM:312870
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Hypotonia, Vertebral segmentation de... ORPHA:96169
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Mend Syndrome
Sacral dimple, Axial hypotonia, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe sy... OMIM:300960
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Myoclonus OMIM:258850
Yao Syndrome
Arthritis, Weight loss OMIM:617321
Cowden Syndrome 1
Kyphosis, Lymphopenia, Scoliosis, Intention tremor OMIM:158350
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet cell adenoma, Weight loss ORPHA:97289
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Neutrop... OMIM:617248
Acute Adrenal Insufficiency
Normocytic anemia, Orthostatic hypotension, Hypotonia, Weight loss, Failure to thrive, Muscle wea... ORPHA:95409
Toriello-Carey Syndrome
Clinodactyly, Short nose, Brachydactyly ORPHA:3338
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Small for gestational age, Tremor, Simplified gyral pattern, Dysmetria, Hypoton... OMIM:220111
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Short neck, Kyphosis, Hip dislocati... ORPHA:140
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Marden-Walker Syndrome
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, ... ORPHA:2461
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Bowing of the legs, Pheochromocytoma, Abnormal central motor function,... ORPHA:97685
Short Syndrome
Short palm, Brachydactyly, Weight loss ORPHA:3163
Juvenile Dermatomyositis
Calcinosis, Myositis, Hypotonia, Weight loss, Arthritis, Muscle weakness ORPHA:93672
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor... OMIM:229400
Pineoblastoma
Papilledema, Lethargy, Paralysis ORPHA:251909
Primary Intestinal Lymphangiectasia
Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4... ORPHA:90362
Neurofibromatosis Type 1
Astrocytoma, Ataxia, Kyphosis, Chronic myelogenous leukemia, Genu valgum, Paresthesia, Pheochromo... ORPHA:636
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Brachydactyly, Short middle phalanx of the 2nd finger, Kypho... OMIM:119600
Deeah Syndrome
Prominent nasal tip, Short nose, Overlapping fingers, C1-C2 subluxation OMIM:619004
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Aspartylglucosaminuria
Kyphosis, Vacuolated lymphocytes, Hypotonia, Cerebral atrophy, Spasticity, Macroglossia, Platyspo... OMIM:208400
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Optic atrophy, Hemivertebrae, Small hand, Hypoto... OMIM:617140
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Wormian bones, C... ORPHA:444077
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity, Skeletal muscle atrophy OMIM:219080
Trichothiodystrophy 1, Photosensitive
Short nose OMIM:601675
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Scoliosis OMIM:615381
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Arachnodactyly, Short columella, Talipes equinovarus, Umbilical hernia, Short ... OMIM:601776
Simple Cryoglobulinemia
Weight loss, Chronic lymphatic leukemia, Arthritis, Paresthesia, Spontaneous pain sensation ORPHA:91139
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Left unilambdoid synostosi... OMIM:609942
Williams Syndrome
Tremor, Dysmetria, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodac... ORPHA:904
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thr... ORPHA:90045
Degcags Syndrome
Syndactyly, Toe syndactyly, Anteverted nares, Prominent nasal bridge, Craniosynostosis, Prominent... OMIM:619488
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Familial Glucocorticoid Deficiency
Failure to thrive, Tetraplegia, Weight loss ORPHA:361
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Splenomegaly, Hypotonia, Anemia, Leukopenia, Truncal obesity, Hemophagoc... OMIM:222700
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis... OMIM:619557
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Facial palsy, Kyphosis, Abnormal metacarpal morphology, Abnormal finger morpho... ORPHA:2658
Classic Homocystinuria
Arachnodactyly, Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Genu valgum, Scoliosis ORPHA:394
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Delayed crani... OMIM:249420
Donohue Syndrome
Severe failure to thrive, Skeletal muscle atrophy, Large hands OMIM:246200
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Osteoarthritis, Leukopenia... ORPHA:77259
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly ORPHA:2075
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Cap Polyposis
Weight loss ORPHA:160148
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Involuntary movements, Fatigable weakness of skeletal muscles, Optic atr... ORPHA:284339
Norrie Disease
Clonus, Cachexia, Optic atrophy, Hypotonia, EEG abnormality, Hypertonia, Scoliosis, Failure to th... ORPHA:649
Okamoto Syndrome
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wid... ORPHA:2729
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... ORPHA:2062
Bullous Pemphigoid
Weight loss ORPHA:703
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Limb Body Wall Complex
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, S... ORPHA:2369
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Cardiospondylocarpofacial Syndrome
Anteverted nares, Tarsal synostosis, Bulbous nose, Wide nasal bridge, Hypoplastic nasal tip, Shor... OMIM:157800
Werner Syndrome
Skeletal muscle atrophy, Rocker bottom foot, Small hand, Slender build, Chondrocalcinosis ORPHA:902
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Systemic Capillary Leak Syndrome
Leukocytosis, Weight loss ORPHA:188
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy, Weight loss, Anemia, Hepatosplenomegaly ORPHA:85450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Broad nasal tip, Long fingers, Wide nasal bridge, Cutaneous syndactyly, Umbilical her... OMIM:620330
Adrenocortical Carcinoma
Increased body weight, Muscle weakness, Weight loss ORPHA:1501
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Recon Progeroid Syndrome
Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Anemia, Long thumb, Thrombo... OMIM:620370
Malignant Atrophic Papulosis
Muscle flaccidity, Pain insensitivity, Weight loss ORPHA:679
Lymphoid Interstitial Pneumonia
Failure to thrive, Clubbing, Rheumatoid arthritis, Weight loss ORPHA:79128
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short nose, Anteverted nares, Wide nasal bridge ORPHA:2282
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Acrodermatitis Enteropathica
Failure to thrive, Cerebral cortical atrophy, Weight loss ORPHA:37
Kikuchi-Fujimoto Disease
Ataxia, Thrombocytopenia, Splenomegaly, Weight loss, Leukopenia, Lymphocytosis, Neutropenia, Anemia ORPHA:50918
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss ORPHA:1332
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, P... OMIM:610915
Rat-Bite Fever
Back pain, Oligoarthritis, Tendonitis, Weight loss, Arthritis, Septic arthritis, Anemia ORPHA:31205
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Brachydactyly, Cachexia, Short palm ORPHA:3217
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Cowden Syndrome
Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Brachydactyly ORPHA:201
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Granuloma, Muscle weakness, Thrombocytopenia ORPHA:781
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Cranial nerve compression, Ependymoma, Insulinoma, Weight loss, Pulmo... ORPHA:652
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Paresthesia, Thr... ORPHA:71493
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Deep palmar crease ORPHA:505248
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Failure to thrive, Anemia, Weight loss OMIM:619377
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anemia, Weight loss ORPHA:71273
Peters Plus Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomelia, Short toe, Shor... ORPHA:709
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Cerebr... OMIM:219800
Tsh-Secreting Pituitary Adenoma
Tremor, Internal ophthalmoplegia, Weight loss, Oculomotor nerve palsy, Periodic hypokalemic paresis ORPHA:91347
Fontaine Progeroid Syndrome
Syndactyly, Depressed nasal bridge, Craniosynostosis, Coronal craniosynostosis, Deep palmar creas... OMIM:612289
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Short nose OMIM:618820
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Carcinoid tumor, Weight loss ORPHA:100085
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae OMIM:305100
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose OMIM:252160
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Thickened Achilles tendon, Lim... OMIM:203500
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia ORPHA:67
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Myositis, Failure to thrive in infancy, Cachexia, Autoimmune thrombo... ORPHA:37042
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Pancreatic endocrine tumor, Leukocytosis, Increased... ORPHA:99889
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Metatarsus adductus, Kyphosis, Flexion contract... OMIM:259050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Convex nasal ridge, Genu valgum OMIM:619321
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Coxa valga, Kyphosis, Avascular necrosis of the capital femora... ORPHA:198
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
1P21.3 Microdeletion Syndrome
Short nose, Broad nasal tip ORPHA:293948
Coffin-Siris Syndrome 1
Sacral dimple, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ap... OMIM:135900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, T lymphocytopenia, Contracture of the... OMIM:618223
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Leukopenia, Decre... ORPHA:2298
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Weight loss ORPHA:97287
Oculocerebrorenal Syndrome Of Lowe
Clonus, Kyphosis, Hip dislocation, Genu valgum, Anemia, Arthritis, Platyspondyly, Joint swelling,... ORPHA:534
Neuroendocrine Tumor Of Stomach
Weight loss, Iron deficiency anemia, Paraganglioma, Atypical pulmonary carcinoid tumor, Carcinoid... ORPHA:100075
Dermatomyositis
Abnormal eosinophil morphology, Proximal muscle weakness, Hypotonia, Weight loss, Arthritis, Infl... ORPHA:221
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Hepatosplenomegaly, Weig... ORPHA:275761
Addison Disease
Normocytic anemia, Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Weight loss... ORPHA:85138
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Nephroblastoma
Weight loss ORPHA:654
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Alstrom Syndrome
Kyphosis, Truncal obesity, Scoliosis OMIM:203800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Hip contracture, Depressed nasal bridge, Single transver... OMIM:619503
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Rheumatoid arthritis, Weight loss ORPHA:49041
Seckel Syndrome
Sandal gap, Cachexia, Craniosynostosis, Scoliosis, Clinodactyly of the 5th finger ORPHA:808
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Generalized muscle weakness, Weight loss, Abnormality of the extraocular muscles, Optic... ORPHA:79078
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Decreased body weight, Flexion contracture, Mitten deformity, Failure to... ORPHA:89842
Tetrasomy 9P
Joint dislocation, Sacral dimple, Myositis, Short neck, Abnormal spinal cord morphology, Small ha... ORPHA:3310
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Weight loss, Hepatosplenomegaly, Generalized amyotr... ORPHA:171
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... OMIM:601701
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing present at birt... OMIM:166220
Acromegaly
Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Jo... ORPHA:963
Somatomammotropinoma
Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Jo... ORPHA:314769
Nodular Non-Suppurative Panniculitis
Splenomegaly, Weight loss ORPHA:33577
Proteus Syndrome
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Decreased muscle mass, Macrodactyly, Cachex... ORPHA:744
Budd-Chiari Syndrome
Splenomegaly, Weight loss ORPHA:131
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Hypotonia, Tibial bowing, Platyspondyly, Scoliosi... OMIM:259770
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Small for gestational age, Cerebral atrophy, Generalized hypotonia, Fail... OMIM:618252
Polycythemia Vera
Splenomegaly, Weight loss, Acute leukemia ORPHA:729
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Hypotonia, Subcortical cerebral atrophy... ORPHA:2273
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
Ramon Syndrome
Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis OMIM:266270
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Arthritis, Lymphocytosis, Thrombocytosis, ... OMIM:301074
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Arthritis, Myopathy, Sclerosis of finger phalanx ORPHA:90289
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Coxa valga, Kyphosis... OMIM:304150
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Vipoma
Respiratory insufficiency due to muscle weakness, Generalized muscle weakness, Weight loss, Normo... ORPHA:97282
Aspartylglucosaminuria
Abnormal morphology of ulna, Wide nasal bridge, Arthritis, Umbilical hernia, Short nose ORPHA:93
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Skeletal muscle atrophy, Flexion contracture of finger, Camptodactyly of finger, M... OMIM:256040
Penile Agenesis
Short nose, Depressed nasal bridge, Bilateral talipes equinovarus ORPHA:49
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture OMIM:619183
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss ORPHA:36426
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Wide nose, Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Tarsal sy... OMIM:201750
Tyrosinemia, Type I
Splenomegaly, Failure to thrive, Anemia, Periodic paralysis OMIM:276700
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Aganglionic megacolon, Ankle flexion contr... ORPHA:821
Familial Osteodysplasia, Anderson Type
Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Bifid femur, Aplasia/hypoplas... ORPHA:2769
Caroli Disease
Splenomegaly, Leukocytosis, Liver abscess, Weight loss ORPHA:53035
Toxic Epidermal Necrolysis
Thrombocytopenia, Weight loss, Anemia, Neutropenia ORPHA:537
Familial Pancreatic Carcinoma
Back pain, Weight loss, Peritoneal abscess, Hepatosplenomegaly ORPHA:1333
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Depressed nasal bridge, Sagittal craniosynostosis, Absent thumb, Wide nasal bridg... ORPHA:500150
Granulomatosis With Polyangiitis
Hemiplegia, Granulomatosis, Weight loss ORPHA:900
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Delay... OMIM:603116
Autoimmune Pulmonary Alveolar Proteinosis
Clubbing, Weight loss ORPHA:747
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Optic neuropathy, Splenomegaly, Clubbing, Weight loss, Arthritis OMIM:181000
Microsporidiosis
Brain abscess, Myositis, Cachexia, Abnormality of the spleen, Weight loss, Decreased proportion o... ORPHA:2552
Sarcoidosis
Hemolytic anemia, Facial palsy, Eosinophilia, Proximal muscle weakness, Thrombocytopenia, Increas... ORPHA:797
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss ORPHA:160
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Clubbing of fingers, Generalized hypotonia, Broad thumb, Anemia, Bro... ORPHA:79076
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia ORPHA:79430
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Hypotonia, Genu valgum, Joint... OMIM:309000
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Myositis, Weight loss ORPHA:764
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Triphalangeal t... ORPHA:2232
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Coxa valga, Limited wrist movement, Osteoarthritis, Hip disloca... ORPHA:740
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Hypotonia, Scoliosis OMIM:619482
Williams-Beuren Syndrome
Hallux valgus, Depressed nasal bridge, Anteverted nares, Down-sloping shoulders, Broad nasal tip,... OMIM:194050
Postinfectious Vasculitis
Arthritis, Weight loss, Abnormality of the peripheral nervous system ORPHA:48435
Parathyroid Carcinoma
Chondrocalcinosis, Muscle weakness, Weight loss ORPHA:143
Wrinkly Skin Syndrome
Scapular winging, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Hypopla... OMIM:278250
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Decreased body weight OMIM:182210
Pallister-Killian Syndrome
Congenital hip dislocation, Single transverse palmar crease, Camptodactyly of 2nd-5th fingers, Sh... OMIM:601803
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Kyphosis, Spina bifida ORPHA:1393
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Clinodactyly, Radial deviation of finger OMIM:609944
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Clubbing of fingers, Stippled calcification in carpal bones, Weight loss ORPHA:60025
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Small intestine carcinoid, Weight loss ORPHA:100078
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
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, Arthritis, J... OMIM:619381
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... OMIM:216340
Reactive Arthritis
Arthritis, Joint swelling, Weight loss ORPHA:29207
Atypical Werner Syndrome
Short palm, Skeletal muscle atrophy, Rocker bottom foot, Osteolytic defects of the phalanges of t... ORPHA:79474
Klatskin Tumor
Weight loss ORPHA:99978
Zollinger-Ellison Syndrome
Neuroendocrine neoplasm, Glucagonoma, Weight loss ORPHA:913
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss ORPHA:309031
Grfoma
Pheochromocytoma, Intestinal carcinoid, Weight loss ORPHA:97261
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Coronal craniosynostosis, Tarsal synostosis, Delayed cranial suture closure ORPHA:85199
Ppoma
Intestinal carcinoid, Weight loss ORPHA:97278
Chronic Graft Versus Host Disease
Pancytopenia, Flexion contracture, Weight loss, Arthritis, Muscle weakness ORPHA:99921
Glucagonoma
Normochromic anemia, Weight loss, Acanthocytosis ORPHA:97280
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Weight loss, Normochromic anemia, Reduced hematocrit ORPHA:91500
Lipodystrophy, Familial Partial, Type 7
Short nose, Narrow nasal ridge OMIM:606721
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Bicoronal synostosis, Kyphosis, Scoliosis OMIM:619718
Somatostatinoma
Hypochromic microcytic anemia, Weight loss ORPHA:97283
Nocardiosis
Weight loss, Brain abscess, Liver abscess, Cutaneous abscess ORPHA:31204
Malt Lymphoma
Anemia, Weight loss ORPHA:52417
Viss Syndrome
Long toe, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Kyphosis, Hypereosinop... OMIM:619472
Primary Fanconi Renotubular Syndrome
Muscle weakness, Weight loss ORPHA:3337
Leprechaunism
Skeletal muscle atrophy, Axial hypotonia, Large hands, Decreased body weight, Failure to thrive ORPHA:508
Branchiooculofacial Syndrome
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Prea... OMIM:113620
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Premature fusion of the radial epiphyseal plates, Weight loss ORPHA:90794
Igg4-Related Kidney Disease
Eosinophilia, Weight loss ORPHA:449395
Tropical Pancreatitis
Weight loss ORPHA:103918
Pancreatoblastoma
Weight loss ORPHA:677
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Stippled calcification of the shoulder, Abnormal calcification of the ca... ORPHA:51608
Alström Syndrome
Optic disc pallor, Somatic sensory dysfunction, Thoracic scoliosis, Ataxia, Incoordination, Kypho... ORPHA:64
Pierson Syndrome
Skeletal muscle atrophy, Hypotonia OMIM:609049
Tropical Endomyocardial Fibrosis
Splenomegaly, Myocardial calcification, Eosinophilia, Cachexia ORPHA:75565
Goodpasture Syndrome
Anemia, Weight loss OMIM:233450

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 Mdga2

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 Mdga2.

No publications found that use IMPC mice or data for Mdga2.

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
Mdga2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mdga2tm364160(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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