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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
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal sensory impairment, Proximal muscle weakness, Han... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot ... OMIM:614436
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... ORPHA:225154
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Proximal muscle weakness, Decreased numbe... OMIM:604484
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Difficulty walking, Incoordination, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... OMIM:302800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Scoliosis, Skeletal muscle atrophy, D... OMIM:159950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Spasticity, Inc... OMIM:613954
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Spastic paraplegia, Distal amyotrophy, Optic atrophy, Knee... OMIM:615043
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Proximal... ORPHA:300605
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Tetraparesis, Limb muscle weakness, Myopathy, Proximal muscle weakness... OMIM:167320
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Quadriceps muscle wea... ORPHA:482601
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Monomelic Amyotrophy
Degeneration of anterior horn cells, Fasciculations, Distal upper limb amyotrophy, Abnormality of... ORPHA:65684
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... ORPHA:99947
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Loss of ambulation, Weakness of the in... OMIM:614373
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Failure to thrive, Microcytic anemia, Foot dorsi... OMIM:618811
Charcot-Marie-Tooth Disease, Type 4A
Ulnar claw, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction veloc... OMIM:214400
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle atrophy, Impaire... OMIM:612335
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, General... OMIM:620285
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscl... ORPHA:2596
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Difficulty walking,... OMIM:605285
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Somatic sensory dysfunction, Hand muscle atrophy, Loss of ambu... OMIM:615658
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Distal amyotrophy, Somatic sensory ... ORPHA:101077
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Lim... OMIM:600361
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Shoulder girdl... ORPHA:45448
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... OMIM:618138
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal ... OMIM:105550
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Dystonia, Athetosis OMIM:300857
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Musc... OMIM:607596
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Difficulty walking, Prolonged central motor conducti... OMIM:616282
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Muscle weakness, Chorea, Limb ataxia, Gait ataxia, Distal ... OMIM:208920
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P... ORPHA:282166
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Degeneration of anterior horn cells, Skeletal muscle atrophy, Hand tremor,... OMIM:253550
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... OMIM:612577
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy, Gait disturbance, Neuronal lo... OMIM:608030
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia,... OMIM:611105
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Weakness... ORPHA:52430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Gait dis... ORPHA:357043
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Distal se... OMIM:616280
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Ankle weakness, Shoulder gird... ORPHA:600
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon... OMIM:615681
Roussy-Lévy Syndrome
Lower limb muscle weakness, Difficulty walking, Genu valgum, Talipes equinovarus, Intrinsic hand ... ORPHA:3115
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Neon... OMIM:604320
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Knee flexion contracture, Thoracic sco... ORPHA:401785
Amyotrophic Lateral Sclerosis 1
Spasticity, Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral scl... OMIM:105400
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Lower limb muscle weakness, Distal sensory impairment, Hand muscle atrophy, Impaired distal vibra... OMIM:607684
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Spasticity, Spastic paraparesis, Distal ... ORPHA:320370
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss, Tibialis mus... ORPHA:98897
Craniosynostosis, Adelaide Type
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... OMIM:600593
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Peripheral axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:276244
Pontocerebellar Hypoplasia Type 1
Tongue fasciculations, Spasticity, Degeneration of anterior horn cells, Skeletal muscle atrophy, ... ORPHA:2254
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Chronic axonal neuropathy, Babinski sign, Hyperton... OMIM:182960
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Limited interphalan... ORPHA:99948
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Bulbar p... OMIM:105500
Progressive Non-Fluent Aphasia
EEG with continuous slow activity, Temporal cortical atrophy, Frontotemporal cerebral atrophy, As... ORPHA:100070
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Somatic sensory dysfunction, Progressive spastic p... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Kyphosis, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment... OMIM:617087
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Distal sensory impairment, Tremor, S... OMIM:615048
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Generalized hypotonia, Impaired vibration sensation in the lower limbs, Abnor... ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Proximal muscle weakness in lower limbs, Proximal muscle weakness in u... OMIM:616668
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Hypotonia, Foot dorsif... OMIM:620011
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616437
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Gait disturbance, Clonu... OMIM:615686
Spinocerebellar Ataxia Type 43
Distal upper limb muscle weakness, Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gai... ORPHA:497764
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Generalized hypotonia, Difficulty walking, Neck muscle weak... OMIM:500002
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Broad middle phalanx of finger, Delayed epiphyseal ossification, Cone-shaped epiphysis, Short 1st... OMIM:182255
Congenital Myopathy 10B, Mild Variant
Increased variability in muscle fiber diameter, Difficulty walking, Neck muscle weakness, Knee co... OMIM:620249
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:617018
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Failure... OMIM:618276
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Spasticity, Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:611895
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Scoliosis, Hypotonia, Decreased compound muscle action potential amplitude... OMIM:301830
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness OMIM:614808
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Talipes equinovarus, Leth... OMIM:613710
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Ulnar claw, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Voc... OMIM:607706
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Respiratory in... OMIM:612069
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... OMIM:610250
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Tibialis anter... OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Dis... OMIM:601472
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Arts Syndrome
Optic atrophy, Neonatal hypotonia, Spinal cord posterior columns myelin loss, Progressive muscle ... OMIM:301835
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations, Loss of ambulation, Muscle ... OMIM:613435
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Decreased motor... OMIM:614895
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Genu recurvatum, Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral ... OMIM:604168
Neuronopathy, Distal Hereditary Motor, X-Linked
Abnormal peripheral nervous system morphology, Distal amyotrophy, Distal sensory impairment, Spin... OMIM:300489
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Generalize... ORPHA:496756
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability ... OMIM:618184
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... OMIM:617892
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelina... OMIM:618279
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Tongue fasciculations, Abnormal anterior horn cell morphology, Interph... ORPHA:1145
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w... ORPHA:98912
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Distal sensory impairment, Steppage gait, Gait disturbance, Distal muscle weak... OMIM:616625
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118210
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Spastic gait, Muscle weakness OMIM:612539
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Muscle weakness, Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Lower limb muscle weakness, Hip contra... OMIM:615290
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... ORPHA:101078
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Ankle weakness, Thenar muscle weakn... OMIM:118300
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Proximal muscle weakness, Loss of ambulation, Spinal m... OMIM:182980
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D... ORPHA:399096
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... OMIM:607317
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Difficulty walking, Incoordination, Distal sensory impairment, Proximal muscle weakness, Intrinsi... OMIM:616688
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
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Spinal muscul... OMIM:614881
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose OMIM:300577
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Decreased motor nerve conduction velocity, Fasciculations, Distal lower limb amyotrop... OMIM:606595
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal upper limb amyotrophy, Distal... ORPHA:101075
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ... OMIM:180800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Ne... OMIM:600795
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Imp... ORPHA:139578
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Limited wrist extension... ORPHA:641
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fascic... OMIM:600882
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized hypotonia, Foot dor... OMIM:617207
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Limb ataxia, Distal low... ORPHA:1175
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... ORPHA:101085
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Generalized amyotrophy, Generalized... ORPHA:169186
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Sensory axonal neuropathy, Upper limb muscle... ORPHA:309169
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, P... ORPHA:101081
Triosephosphate Isomerase Deficiency
Spasticity, Myopathy, Optic disc pallor, Unsteady gait, Cerebral atrophy, Macrocytic anemia, Prog... OMIM:615512
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle atroph... ORPHA:139536
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Ankle weakness, Hand muscle weakness, Pos... ORPHA:100998
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... OMIM:158600
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness, Steppage gait, Distal muscle weakness, Impaired dis... OMIM:618036
Amish Nemaline Myopathy
Shoulder flexion contracture, Neonatal hypotonia, Type 1 muscle fiber predominance, Tremor, Hip c... ORPHA:98902
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Impaired pain sensation, Upper limb muscle weakness, Lower limb muscle weakness, C... OMIM:618511
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Skeletal muscle atrophy, Decreased body weight, Scissor gait, Hypertonia ORPHA:401805
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cereb... OMIM:611890
Desminopathy
Spinal rigidity, Difficulty walking, Axial muscle weakness, Distal lower limb muscle weakness, Lo... ORPHA:98909
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Difficulty walking, Distal lower limb muscl... OMIM:615025
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Difficulty... OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal upper limb muscle weakness, Distal amyotrophy, Impaired distal vibration sensation, Distal... OMIM:619519
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Generalized hypotonia, Difficulty walking, Failure to ... ORPHA:254875
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Skeletal muscle hypertrophy, Hypotonia, Proximal mus... OMIM:611588
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Somatic sensory dys... ORPHA:99950
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal upper limb muscle weakness, Decreased amplitude of sensory action ... ORPHA:90103
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Muscle weakness, Slurred speech ORPHA:401953
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, Di... OMIM:145900
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Difficulty walking, Peripheral demyelination, Positive Romberg sign, Dista... ORPHA:206594
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... OMIM:615376
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor, Distal ... ORPHA:423296
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle fl... ORPHA:610
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal senso... OMIM:618387
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral... OMIM:606482
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Thenar muscle atrophy, Impaired ... ORPHA:171617
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Proximal muscle weakness, Bulbar palsy,... OMIM:615911
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:619216
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Generalized muscle weakness, Distal lower limb mus... ORPHA:254361
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight ... ORPHA:98934
Nemaline Myopathy 5C, Autosomal Dominant
Lower limb muscle weakness, Difficulty walking, Slender build, Proximal muscle weakness, Gowers s... OMIM:620389
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Tremor, Distal sensory impairment, Fiber type grouping, Distal muscle weakness OMIM:614369
Autosomal Dominant Spastic Paraplegia Type 19
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Progressive spastic para... ORPHA:100999
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Hypotonia, Scoliosis, Tremor, Ataxia OMIM:213000
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Cerebral atrophy, Generalized hypotonia, Inability to walk, Obesity, ... OMIM:616756
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty ... ORPHA:468661
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Leth... OMIM:606777
Distal Nebulin Myopathy
Ankle flexion contracture, Nemaline bodies, Sternocleidomastoid amyotrophy, Slender build, Progre... ORPHA:399103
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper... ORPHA:98896
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Generalized hypotonia, Difficulty walking, Neck muscle ... OMIM:609285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Neonatal hypotonia, Difficulty walking, Proximal muscle weakness, Generalized muscle weakness, Pr... OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Fir... OMIM:600794
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Stepp... OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas... OMIM:601098
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness,... OMIM:614409
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased amplitude of sensory action potentials, Distal sensory impairment, P... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4H
Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,... OMIM:609311
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Limb muscle weakness, Tre... OMIM:607458
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypotonia, Appendicular hypotonia, Axial hypotonia, Proximal muscle weakness, Loss of ambulation,... OMIM:620166
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory axonal neuropathy, Cerebral atrophy, Limb muscle weakness, Ragged-red muscle fibers, EMG:... OMIM:609286
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Distal upper limb muscle weakness, Distal amyotrophy, Impaired pain... ORPHA:99953
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Neck ... ORPHA:466768
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... ORPHA:137898
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Distal amyotrophy, Cerebral atrophy, Impaired vibratio... ORPHA:352641
Infantile Refsum Disease
Optic atrophy, Spasticity, Failure to thrive, Hypotonia, Progressive muscle weakness, Ataxia, Fac... ORPHA:772
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis, Difficu... OMIM:608634
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Sensory axonal neuropathy, Lower limb muscle weaknes... OMIM:616907
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... OMIM:127300
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation,... ORPHA:968
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Ulnar claw, Distal amyotrophy, Foot dorsiflexor weakness, Peripheral axonal neuropathy, Decreased... OMIM:618400
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis,... ORPHA:275864
Nemaline Myopathy 2
Hand clenching, Increased variability in muscle fiber diameter, Neonatal hypotonia, Slender build... OMIM:256030
Dysequilibrium Syndrome
Skeletal muscle atrophy, Cerebral palsy, Hypotonia, Gait disturbance, Ataxia ORPHA:1766
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Progressive distal muscle weakness, Multiple joint contrac... ORPHA:98911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Infantile axial hypotonia, Multiple joint contr... ORPHA:521406
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:620402
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Broad-based gait, Difficulty walking, Motor axonal neuropathy, Loss of ambulation, Peripheral axo... OMIM:620528
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Nemaline Myopathy 7
Genu recurvatum, Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle... OMIM:610687
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... OMIM:615957
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor ... ORPHA:275872
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Upper limb undergrowth, Ab... ORPHA:93351
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:302801
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Lethargy,... ORPHA:71277
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen... OMIM:151800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Neonatal hypotonia, Generalized hypotonia, Hypotoni... OMIM:617519
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Tendon xanthomatosis, Abnormal motor... ORPHA:909
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, D... OMIM:613287
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Spinocerebellar Ataxia 1
Spasticity, Proximal muscle weakness, Optic disc pallor, Progressive cerebellar ataxia, Impaired ... OMIM:164400
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Impair... OMIM:270800
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakne... OMIM:615284
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Clinodactyly of the 5th finger, Short nose ORPHA:217340
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre... ORPHA:2590
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Increased endomysial con... OMIM:620542
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... OMIM:610357
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty w... ORPHA:100989
Myopathy, Myofibrillar, 6
Spinal rigidity, Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Myofibrillar myopa... OMIM:612954
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Distal sensory impairment, Peripheral axonal neuropathy, Ataxia, Dysmetria, Babinski sign, Steppa... OMIM:616505
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Short toe, Knee dislocation, Genu valgum, Limited el... OMIM:614078
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Talipes equinovarus, Babinski sign, L... OMIM:613162
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Distal amyotrophy, Global brain atrophy, Spinocerebellar tract degene... ORPHA:94124
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peri... OMIM:607731
Spinocerebellar Ataxia Type 2
Ophthalmoparesis, Cerebral cortical atrophy, Abnormal cortical gyration, Spinal cord posterior co... ORPHA:98756
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction veloc... OMIM:118220
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Spastic paraplegia, Skelet... OMIM:620538
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Spasticity, Falls, Lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Pro... OMIM:617882
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... OMIM:607677
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Adrenomyeloneuropathy
Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Distal sensory impairment, Bac... ORPHA:139399
X-Linked Charcot-Marie-Tooth Disease Type 6
Lower limb muscle weakness, Hand tremor, Difficulty walking, Decreased nerve conduction velocity,... ORPHA:352675
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Falls, Necrotizing myopathy, Ske... ORPHA:178464
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Hypotonia, Proximal muscle weakness, Lower limb spasticity, Gait disturbance, Proxi... OMIM:617404
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Upper limb muscle weakness, Somatic sensory dysfunction, Lower limb muscle wea... ORPHA:99939
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Cerebellar atrophy, Tip-toe gait, Neonatal hypotonia, Generalized hypotonia, ... ORPHA:370980
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Pancytopenia, Hypotonia, Myoclonus, Ragged-red muscle fibers, Tremor, Loss of... OMIM:607426
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose ORPHA:1450
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... ORPHA:93320
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Cerebral atrophy, Difficulty walking, Chorea, Myopathy, Hyperkine... ORPHA:369847
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar vermis atrophy, Hypotonia, Dysmetria, Hoffmann sign, Ax... OMIM:618438
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Difficulty walking... ORPHA:330050
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, ... OMIM:616286
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Scapuloperoneal Spinal Muscular Atrophy
Small hand, Broad-based gait, Clinodactyly, Distal sensory impairment, Talipes equinovarus, Torti... OMIM:181405
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Ankle clonus, Tr... OMIM:616053
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction veloc... OMIM:118200
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Ulnar deviation of finger, Depressed nasal bridge, Aplasia/Hypoplasia invo... ORPHA:1529
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Hypotonia, Foot dorsiflexor weakness, Distal sensory impairment... OMIM:618124
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw... OMIM:601455
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Impaired vibration sensation in the... ORPHA:251282
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:171612
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... ORPHA:496689
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Cerebral atrophy... ORPHA:1320
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Cerebellar vermis atrophy, Paresthe... OMIM:616719
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Generalized amyotrophy, ... OMIM:619686
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Failure to thrive, Generalized limb muscle atrophy, Microcytic anemia, Sidero... OMIM:600462
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Prox... OMIM:258450
Autosomal Recessive Spastic Paraplegia Type 26
Cerebral cortical atrophy, Skeletal muscle atrophy, Pseudobulbar paralysis, Impaired vibration se... ORPHA:101006
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, Ga... ORPHA:248111
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Antev... ORPHA:969
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Skeletal muscle atrophy, Hypotonia, Limb muscle weakness, Myoclonus, T... ORPHA:97229
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Skeletal muscle atrophy, Tip-toe gait, Lower limb ... OMIM:604360
Rigid Spine Syndrome
Spinal rigidity, Skeletal muscle atrophy, Generalized hypotonia, Elbow flexion contracture, Neck ... ORPHA:97244
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degeneration, Peripheral axonal degen... OMIM:162100
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Hypotonia, Tremor, Hypsarrhy... ORPHA:599373
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s... OMIM:270550
Lopes-Maciel-Rodan Syndrome
Small hand, Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, ... OMIM:617435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Lower limb muscle weakness, Difficulty walking, Positive Romberg sign, Loss of ... OMIM:616479
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, A... OMIM:620323
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Distal lower limb amyotrophy, Ankle cl... ORPHA:100984
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Cerebral atrophy, Hypotonia, Dysmetria, T... OMIM:617916
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Short columella, Short nose OMIM:155050
Spinocerebellar Ataxia, Autosomal Recessive 16
External ophthalmoplegia, Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Babi... OMIM:615768
Cerebellar Ataxia, Cayman Type
Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Hypotonia, Gait ataxia, Dystonia, ... OMIM:601238
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Hypotonia, Ataxia, Simplified gyral pattern OMIM:613402
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, ... OMIM:607734
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Generalized hypotonia, Tremor, Kyphoscoliosis, Peripheral axonal neuropathy, A... OMIM:619099
Atypical Rett Syndrome
Small hand, Spasticity, Neonatal hypotonia, Loss of ambulation, Short foot, Involuntary movements... ORPHA:3095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spinocerebellar Ataxia Type 1
Bradykinesia, Progressive cerebellar ataxia, Slurred speech, Chorea, Dysmetria, Dystonia, Abnorma... ORPHA:98755
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Axon... OMIM:606483
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Neonatal hypotonia, Lower limb muscle weakness, Ataxia, Impaired vibratory sensation,... ORPHA:88644
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Distal amyotrophy, Sensory axonal neuropathy, Inability to wal... OMIM:609541
Frontotemporal Dementia
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Somatic sensory dysfunction, Lower limb muscle weakness, Inability to... ORPHA:90117
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Distal amyotrophy, Tip-toe gait, Neurodegeneration, Motor axonal neuropathy,... OMIM:615643
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Broad-based gait, Skeletal muscle atrophy, Impaired... OMIM:609033
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foo... OMIM:604563
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormality of the spinocerebellar tracts, Gait imbalance, Limb dysmetri... ORPHA:329336
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Neonatal hypotonia, Camptodactyly of finger, ... OMIM:158810
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Talipes equinovarus, Gait disturbance OMIM:615683
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Skeletal muscle atrophy, Postural tremor, Limit... ORPHA:100988
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocit... OMIM:607250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Scoliosis, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atroph... OMIM:600175
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Huntington Disease
Involuntary movements, Decreased body mass index, Degeneration of the striatum, Cerebral atrophy,... ORPHA:399
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypotonia, Tremor, Hypsarrhythmia, Poor head control OMIM:619561
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Kyphosis, Finger joint contracture, Chorea, Paresthesia, Abnormality o... ORPHA:48431
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... OMIM:611302
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... ORPHA:2370
Allan-Herndon-Dudley Syndrome
Spasticity, Neonatal hypotonia, Generalized muscle weakness, Abnormal pyramidal sign, Ataxia, Spa... ORPHA:59
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Involuntary movements, Distal amyotrophy, Cerebellar atrophy, Sensory axonal neuro... OMIM:271245
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... OMIM:600363
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... OMIM:619574
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:607678
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Skeletal muscle atrophy, Bradykinesia, Upper motor neuron dysfunction,... OMIM:500001
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Spasticity, Somatic sensory dysfunction, Generalized limb muscle atrophy, Cerebell... ORPHA:466794
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Motor axo... OMIM:614298
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Neonatal hypotonia, Peripheral demyelination, Loss of ambulation... OMIM:614877
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Lissencephaly, Muscular dystrophy, Neonatal hypotonia, Absent muscle fiber merosin, Inability to ... ORPHA:258
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Sandhoff Disease, Juvenile Form
Acroparesthesia, Skeletal muscle atrophy, Failure to thrive, Fasciculations, Incoordination, Cere... ORPHA:309162
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Progressive extrapyramidal movement disorder, Involun... ORPHA:401768
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Small hand, Broad-based gait, Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tr... OMIM:610185
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Hypotonia, Decreased compound muscle action potential amplitude, Myopathy, Sever... OMIM:618323
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Upper limb muscle we... OMIM:609195
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal motor e... ORPHA:98
Autosomal Dominant Spastic Paraplegia Type 73
Abnormal lower-limb motor evoked potentials, Progressive spastic paraplegia, Progressive spastic ... ORPHA:444099
Myosclerosis, Autosomal Recessive
Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Achille... OMIM:255600
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, E... ORPHA:306692
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Generalized hypotonia, Difficulty walking, Slender build, Inability to walk, Astrocytosis, Hypoto... OMIM:611087
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Skeletal muscle atrophy, Fasciculations, Decreased nerve conduction velocity, Rigidit... OMIM:183050
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Limb undergrowth, Brachydactyly, Short long bone, Short nose ORPHA:221054
Machado-Joseph Disease
External ophthalmoplegia, Spasticity, Parkinsonism, Ataxia, Bradykinesia, Progressive cerebellar ... OMIM:109150
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... OMIM:221770
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Weiss-Kruszka Syndrome
Single transverse palmar crease, Prominent nasal tip, Clinodactyly of the 5th finger, Proximal pl... ORPHA:502430
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Generalized hypotonia, Inco... ORPHA:157941
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Shuffling gait, Optic atrophy, Cerebellar atrophy, Sensory axonal neuro... ORPHA:254886
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, Se... OMIM:616924
Machado-Joseph Disease Type 1
Spasticity, Substantia nigra gliosis, Skeletal muscle atrophy, Spinocerebellar tract degeneration... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Substantia nigra gliosis, Skeletal muscle atrophy, Spinocerebellar tract degeneration... ORPHA:276241
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Scoliosis, Kyphosis, Neonatal... OMIM:255200
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Axial hypotonia, Short neck, Ataxia, Muscle weakness OMIM:618951
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Generalized hypotonia, Incoordination, Cerebellar vermis atrophy, Hypotonia, Limb ata... OMIM:213200
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Spastic dysarthria, Generalized hypotonia, Myoclonus, Spinal cord lesion, Babinski... ORPHA:401866
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Gemignani Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Skeletal muscle atrophy, Cerebral atrophy, Sensory axonal ... ORPHA:457205
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Proximal muscle weakness, Spinal cord lesio... ORPHA:320355
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Diffuse cerebral atrophy, ... ORPHA:314632
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Distal muscle weak... OMIM:158590
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Hypotonia, Rigidity, Gait disturbance, Ataxia, Dys... OMIM:618239
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor, Generalized ... ORPHA:2589
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Skeletal muscle atrophy, Muscle weakness, Fasciculations ORPHA:85162
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific... OMIM:105835
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Hypotoni... ORPHA:1188
Rhiny
Anteverted nares, Short nose OMIM:180360
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Generalized muscle weakness, Short neck, Torticol... ORPHA:75840
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Neonatal hypotonia, Inability... OMIM:218000
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hypotonia, Tremor, Rigidity, Cerebral corti... ORPHA:33445
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of... OMIM:216100
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Hypotonia, Facial diplegia, Distal sensory impairment, Peripheral hypomyelinat... OMIM:616287
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Vocal cord paralys... OMIM:162500
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab... ORPHA:500180
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Cerebral atrophy, Generalize... ORPHA:442835
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Depressed nasal bridge, Hypoplastic scapulae... ORPHA:85166
Supranuclear Palsy, Progressive, 1
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Ri... OMIM:601104
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Progressive muscle weakne... OMIM:615919
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl... OMIM:177170
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Impaired tandem... OMIM:300423
Isolated Succinate-Coq Reductase Deficiency
External ophthalmoplegia, Spasticity, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atr... ORPHA:3208
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Hypotonia, Tremor, Spastic tetrapares... OMIM:619470
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Kyphosis, Cerebellar atrophy, Generalized dystonia, Generalized hypotonia, Inabili... OMIM:128100
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Leg muscle s... ORPHA:391411
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle w... ORPHA:100986
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Cerebellar vermis atrophy, Hamstrin... OMIM:210000
Brown-Vialetto-Van Laere Syndrome 2
Tongue fasciculations, Optic atrophy, Generalized hypotonia, Neck muscle weakness, Hypotonia, Lim... OMIM:614707
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Rigidity, Abnormality of extrapyramidal motor function, Talipes equinovarus, Scissor gait... OMIM:260300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Distal se... ORPHA:99944
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraparesis, Clinodactyly, Lower limb muscle weakness, Difficulty walking, Short foot, Sp... OMIM:275900
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... OMIM:228900
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus, Axial hypotonia ORPHA:494526
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Spasticity, Spastic paraplegia, Distal amyotrophy, Upper limb muscl... ORPHA:100996
Potocki-Shaffer Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Single transverse palmar crease, Wormian bones, 2-5... OMIM:601224
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Generalized hypotonia, Cerebellar vermis atrophy, Limb ataxia, Myocl... ORPHA:98763
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Tongue fasciculations, Neck muscle weakness, Hand muscle atrophy, Gener... OMIM:211530
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Hypotonia, Gait ataxia, Tremor,... OMIM:617810
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Failure to thrive, Spi... OMIM:616081
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Spastic dysarthria, Distal amyotrophy, Lower limb muscle weaknes... ORPHA:313772
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext... OMIM:615362
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Hypotonia, Tremor, Parkinsonism, Abnormal auto... OMIM:618049
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
External ophthalmoplegia, Broad-based gait, Increased variability in muscle fiber diameter, Posit... OMIM:607459
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:601152
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m... OMIM:617760
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification of carpal bone... OMIM:617974
Epilepsy, Progressive Myoclonic, 9
Short thumb, Simplified gyral pattern, Myoclonus, Gait ataxia, Action myoclonus, Scoliosis, Frequ... OMIM:616540
Seckel Syndrome 7
Prominent nose, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Short middle p... OMIM:614851
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Limb dysmetria, Action tremo... ORPHA:98762
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Ophthalmoplegia, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Pr... OMIM:183090
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti... OMIM:615491
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus, Axial hypot... OMIM:616921
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Tetraparesis, Antalgi... OMIM:620546
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100993
Hemiparkinsonism-Hemiatrophy Syndrome
Generalized hypotonia, Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Dystonia, Parkinsoni... ORPHA:306669
Winchester Syndrome
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy OMIM:277950
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Difficulty walking, Slender build, Neck muscle we... ORPHA:171439
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ... OMIM:615924
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Neonatal hypotonia, Hypotonia, Action tremor, Abnormality of extrapyramidal m... OMIM:302500
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen... OMIM:263570
Friedreich Ataxia
Spasticity, Hand muscle atrophy, Impaired visually enhanced vestibulo-ocular reflex, Poor fine mo... ORPHA:95
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Neonata... OMIM:605253
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vi... ORPHA:320406
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Progressive proximal muscle weakness, Neonatal hypotonia, Small for gestation... OMIM:300076
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss, Calf muscle hypertrophy, EEG abnormality,... ORPHA:84142
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Syringomyelia, Noncommunicating Isolated
Enlarged sagittal diameter of the cervical canal, Paresthesia, Gait ataxia, Limb muscle weakness,... OMIM:186700
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Spastic paraparesis, Distal amyotrophy, Upper limb muscle weakness, Lower limb mus... ORPHA:254930
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Cerebral atrophy, Tremor, Proximal muscle weakness, Weakness of facial ... OMIM:618637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... OMIM:619566
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Frequent falls, Inability to walk, Extrapyramidal muscular rigidity, Obesity,... ORPHA:93952
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Decreased nerve conduc... ORPHA:329478
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Kyphosis, Progressive spastic paraplegia, Cerebral atrophy, Difficulty walking, Obesi... ORPHA:464282
Caribbean Parkinsonism
Cerebral cortical atrophy, Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dys... ORPHA:97355
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Cdkl5-Deficiency Disorder
Broad proximal phalanges of the hand, Impaired pain sensation, Abnormal muscle tone, Difficulty w... ORPHA:505652
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Small hand, Resting tremor, Parkinsonism, Short neck, EEG with generalized slow activity, Ataxia,... OMIM:300055
Myxopapillary Ependymoma
Autonomic bladder dysfunction, Abnormal conus terminalis morphology, Ependymoma, Unsteady gait, A... ORPHA:251643
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Tetraparesis, Impaired vibration sensation in the lower limbs, Hand muscle atrophy, Motor axonal ... ORPHA:324442
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Myoclonus, Splenomegaly, Diffuse ... OMIM:230650
Huntington Disease-Like 2
Cerebral cortical atrophy, Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Gait ataxia, Kinetic tremor, ... ORPHA:101110
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal py... ORPHA:96
Steel Syndrome
Wide nasal bridge, Carpal synostosis, Anteverted nares, Limited elbow extension, Coxa vara, Clino... OMIM:615155
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
External ophthalmoplegia, Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walki... OMIM:612319
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Sensory axonal neuropathy, Fasciculations, Foot dorsiflexor weakness, Di... OMIM:137200
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Kyphosis, Failure to thrive in infancy, Hyp... ORPHA:702
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased ampli... OMIM:256840
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Spasticity, Arthrogryposis multiplex congenita, Distal amyotrophy, Proximal mus... OMIM:162370
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,... ORPHA:2639
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Generalized hypotonia, Slender build, Hypotonia, Ragged-red muscle fibers, Generalized muscle wea... OMIM:613662
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Hypotonia, Myopathy, Axial muscle weakness, Cachexia, Gait disturbance, ... ORPHA:157973
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Bradykinesia, Tip-toe gait... OMIM:617013
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Skeletal muscle atrophy, Decreased nerve conduction velocity... ORPHA:868
Tay-Sachs Disease
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Global brain atrophy, I... ORPHA:845
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Shoulder girdl... OMIM:608358
Dk1-Cdg
Failure to thrive, Severe muscular hypotonia, Progressive muscle weakness, Hypsarrhythmia, Infant... ORPHA:91131
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Kyphosis, Generalized hypotonia, Hypotonia, Myopa... OMIM:616471
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... ORPHA:206443
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Tremor, Ataxia OMIM:300983
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Generalized muscle weakness, Loss of ambulation, ... OMIM:602771
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Spinocerebellar Ataxia With Epilepsy
Ophthalmoparesis, Optic atrophy, Sensory axonal neuropathy, Gait ataxia, Myoclonus, Dysmetria, Tr... ORPHA:254881
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Difficulty walking, Peripheral demyelination, Kyphoscoliosis, Ataxia, Ax... OMIM:616684
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis OMIM:607341
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Failure to thrive, Cerebellar atrophy, Generalized hypotonia, Myopathy, ... OMIM:618237
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Spasticity, Muscular dystrophy, Skeletal m... ORPHA:559
Autosomal Spastic Paraplegia Type 58
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... ORPHA:397946
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Fatigable weakness, Ragged-red muscle fibers, Proximal mu... OMIM:610542
Japanese Encephalitis
Muscle flaccidity, Talipes equinovarus, Opisthotonus, Neutrophilia, Paucity of anterior horn moto... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Decreased nerve conduction velocity, Severe muscular hypotonia, Poor hea... OMIM:614932
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, ... OMIM:617710
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Optic atrophy, Global brain atrophy, Failure to thrive, Gen... OMIM:312080
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Inability ... OMIM:617481
Sandhoff Disease
Failure to thrive, Splenomegaly, Ataxia, Kyphosis, Muscle weakness ORPHA:796
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... OMIM:102510
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Obesity, Hypotonia, Limb dystonia, Tremor, Bilateral coxa valga OMIM:620270
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Porphyria, Acute Hepatic
Failure to thrive, Hypotonia, Paresthesia, Respiratory paralysis, Paralysis, Hemolytic anemia OMIM:612740
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Proximal... OMIM:607831
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Hypotonia, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Appendicular hypotonia, Facial myokymia, Ataxia, Kyphos... OMIM:620007
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakn... OMIM:620378
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Loss of ambulation, Ataxia,... OMIM:614018
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Neck muscle weakness, Myoclonus, Hypotonia, Facial... OMIM:606703
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Skeletal muscle atrophy, Pseudobulbar ... OMIM:616586
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hand t... OMIM:162400
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ge... OMIM:619042
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... OMIM:164500
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidity,... ORPHA:391417
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Neonatal hypotonia... ORPHA:536516
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodeg... OMIM:203700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Polycythemia, Difficulty walking, Astrocytosis, Action tremor, Splenomegaly,... ORPHA:309854
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax... OMIM:600116
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Hypotonia, Myoclonus, Tremor, Proximal muscle weakness, Decreased level of co... OMIM:612016
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Involuntary movements, Increased variability in muscle fiber diameter, Ske... ORPHA:238329
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Generalized hypotonia, Axona... OMIM:616811
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 31
External ophthalmoplegia, Optic atrophy, Cerebral atrophy, Tremor, Axial hypotonia, Lumbar kyphos... OMIM:619422
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... ORPHA:99956
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Hypotonia, Ragged-red musc... OMIM:300816
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal amyotrophy, Decreased amplitude of sensory action potentials, Inabilit... ORPHA:36386
De Sanctis-Cacchione Syndrome
Ataxia, Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Axonal degeneration, B... OMIM:278800
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Pterygium, Short nose, Antever... ORPHA:93329
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle w... OMIM:612020
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Skeletal muscle atrophy, Failure to thrive, Generalized hypotonia, Hypotonia, Leth... OMIM:618228
Tbck-Related Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Skeletal muscle atrophy, Clinodactyly, Global brain... ORPHA:488632
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Hypotonia, Myoclonus, Tremor, Proximal muscle weakness, Talipes cavus equinov... ORPHA:139485
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Talipes equinovarus, Lower limb spasticity, Adduc... OMIM:303350
Ane Syndrome
Multiple joint contractures, Kyphoscoliosis, Motor neuron atrophy, Ulnar deviation of the hand, G... ORPHA:157954
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... OMIM:615127
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness, Prominent met... ORPHA:85317
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tand... OMIM:619028
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Neonatal hypotonia, Genu valgum, Myopathy, Short ... ORPHA:171436
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose, Prominent metopic ridge ORPHA:46
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Difficulty walking, Head tremor, Positive Romberg sign... ORPHA:99949
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Somatic sensory dysfunction, Cerebellar atrophy, Head tremor, Gait ataxi... ORPHA:98771
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia OMIM:618425
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal amyotrophy, Distal sensory impairment, Gait disturbance, Segmental peripher... OMIM:311070
Pure Mitochondrial Myopathy
Rhabdomyolysis, Proximal muscle weakness, Loss of ambulation, Proximal amyotrophy, Gowers sign, P... ORPHA:254854
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... ORPHA:2557
Primary Lateral Sclerosis
Spasticity, Progressive spastic paraparesis, Abnormal upper motor neuron morphology, Cervical spi... ORPHA:35689
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Hypotonia, Cachexia, Ab... ORPHA:363717
Muscular Dystrophy, Congenital, Lmna-Related
Spinal rigidity, Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contrac... OMIM:613205
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Inability to walk, Hypotonia, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait ... OMIM:618090
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Ophthalmoplegia, Weight loss, C... OMIM:301310
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spondylometaphyseal Dysplasia, Kozlowski Type
Depressed nasal bridge, Dumbbell-shaped femur, Flared metaphysis, Irregular acetabular roof, Elbo... OMIM:184252
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Short nose ORPHA:261120
Synostoses, Tarsal, Carpal, And Digital
Underdeveloped nasal alae, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synosto... OMIM:186400
Acute Peripheral Arterial Occlusion
Paresthesia, Limb muscle weakness, Leukocytosis, Paralysis, Impaired distal tactile sensation ORPHA:90064
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Generalized amyotrophy, Somatic sensory dysfunction, Lower limb mu... ORPHA:1177
Peroxisome Biogenesis Disorder 11B
Hypotonia, Hepatosplenomegaly, Progressive muscle weakness, Muscle weakness OMIM:614885
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... OMIM:607225
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weaknes... OMIM:614487
Maxillonasal Dysplasia
Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Short columella, A... ORPHA:1248
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Chorea, Limb at... OMIM:606002
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Decreased nerve conduction veloci... ORPHA:812
Burn-Mckeown Syndrome
Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose ORPHA:1200
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Ky... ORPHA:319199
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Fried Syndrome
Skeletal muscle atrophy, Hypotonia, Gait disturbance, Scoliosis, Spastic diplegia ORPHA:85335
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Broad-based gait, Skeletal muscle atrophy, Failure to thrive, Painless fractu... OMIM:256810
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Generalized amyotrophy, Decreased muscle mass, Generalized hypotonia,... OMIM:271225
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Hypotonia, Limb muscle weakness, Pr... OMIM:610131
Baralle-Macken Syndrome
Spasticity, Global brain atrophy, Neonatal hypotonia, Inability to walk, Obesity, Dystonia, Kypho... OMIM:619255
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Limb undergrowth,... OMIM:618961
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Short nose, Wide nose ORPHA:217385
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Chorea, Hypotonia, Leukocytosis, Splenomegaly, Tremor, Proxima... OMIM:615673
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve ... ORPHA:101082
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Cerebral atrophy, Generalized hypotonia, Inability to walk, Hypotonia, Limb muscle weakness, Faci... OMIM:609560
Allan-Herndon-Dudley Syndrome
Spastic paraplegia, Neonatal hypotonia, Inability to walk, Babinski sign, Hallux valgus, Clonus, ... OMIM:300523
Jaberi-Elahi Syndrome
Hand clenching, Broad-based gait, Optic atrophy, Kyphosis, Failure to thrive, Inability to walk, ... OMIM:617988
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Generalized hypotonia, Limb dystonia, Gait ataxia, Parkinsoni... ORPHA:71517
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Obesity, Ky... ORPHA:459033
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Myoclonus, ... OMIM:137440
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Hypotonia, EEG with polyspike wave complexes, Action tremor, EEG abnormality, A... OMIM:617665
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Harel-Yoon Syndrome
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Inability to walk, Hypotonia, P... OMIM:617183
Myopathy, Distal, 3
Rimmed vacuoles, Joint contracture of the hand, Muscular dystrophy, Distal amyotrophy, Clumsiness... OMIM:610099
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Slender finger, Delayed epiphyseal ossification, Hip dislocation, Multiple ... ORPHA:93360
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Pachygyria, Difficulty walking, Inability to walk, Hypotonia, Abnormal morphol... ORPHA:280210
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Decreased nerve conduction velo... OMIM:612674
Rett Syndrome
Cerebral cortical atrophy, Spasticity, Skeletal muscle atrophy, Gait ataxia, Cachexia, EEG abnorm... OMIM:312750
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Abnormal muscle tone, Neurodegeneration, Axonal... ORPHA:478029
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Nemaline Myopathy 10
Nemaline bodies, Skeletal muscle atrophy, Congenital contracture, Generalized hypotonia, Generali... OMIM:616165
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Neonatal hypotonia, Slender build, Proximal muscl... OMIM:254090
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Apl... ORPHA:93258
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Generalized hypotonia, Thoracic kyphosis, Gait ataxia, Myoclonus, Tremor, Impaired ... OMIM:619092
Distal Duplication 18Q
Choanal atresia, Deviation of finger, Camptodactyly of finger, Anteverted nares, Prominent nasal ... ORPHA:1716
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Hyperlordosis, Periodic paralysis OMIM:614198
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, S... OMIM:606071
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Global brain atrophy, Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, I... OMIM:612073
Pontocerebellar Hypoplasia, Type 1D
Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thri... OMIM:618065
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Poor head control, Dystonia, Axial hypotonia OMIM:619651
X-Linked Non Progressive Cerebellar Ataxia
Generalized neonatal hypotonia, Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprog... ORPHA:314978
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Hypotonia, Ga... ORPHA:1170
Autosomal Recessive Spastic Paraplegia Type 9B
Cerebral cortical atrophy, Spasticity, Skeletal muscle atrophy, Tip-toe gait, Postural tremor, Im... ORPHA:447760
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Neonatal hypotonia, Difficulty walking, Proximal muscle weakness, Hip disl... ORPHA:70
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Myasthenic Syndrome, Congenital, 10
Ophthalmoparesis, Distal amyotrophy, Fatigable weakness, Axial muscle weakness, Weakness of facia... OMIM:254300
Autosomal Recessive Spastic Paraplegia Type 35
Difficulty walking, Neck muscle weakness, Peripheral demyelination, Ophthalmoplegia, Spastic tetr... ORPHA:171629
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Hypo... OMIM:613204
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Neonatal hypotonia, Hypo... OMIM:616313
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, R... ORPHA:329284
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... OMIM:213600
Poliomyelitis
Myelitis, Hypoplasia of the musculature, Skeletal muscle atrophy, Muscle flaccidity, Lower limb m... ORPHA:2912
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Short humerus, Short... ORPHA:93328
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sens... OMIM:605589
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Neurodegeneration, De... OMIM:256600
Oxoglutarate Dehydrogenase Deficiency
Falls, Hypotonia, Gait ataxia, Dysmetria, Rigidity, Dystonia, Unsteady gait, Generalized amyotrophy OMIM:203740
Secondary Syringomyelia
Facial paralysis, Somatic sensory dysfunction, Pseudobulbar paralysis, Difficulty walking, Parapl... ORPHA:99857
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Reticulocytosis, Tremor, Splenomegaly, EEG abnormality, Ataxia, Dystonia, Hemol... OMIM:612126
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Epiphyseal stippling, Short nasa... OMIM:302950
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Autosomal Dominant Spastic Paraplegia Type 9B
Focal dystonia, Elbow flexion contracture, Postural tremor, Hypotonia, Upper motor neuron dysfunc... ORPHA:447757
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Decreased muscle mass, Gait ataxia, Ophthalmoplegi... ORPHA:85278
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Brachydactyly, Advanced ossifica... OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Generalized hypotonia, Chorea, EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG... OMIM:618587
Odontochondrodysplasia
Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Bowing of the long... ORPHA:166272
49,Xyyyy Syndrome
Short 5th finger, Recurrent upper respiratory tract infections, Finger clinodactyly, Bridged palm... ORPHA:99330
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Decreased size of nerve terminals, Abnormality of the musculature of the... ORPHA:98913
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Generalized hypotonia, Neurodegeneration, Chorea, Hypotonia, Dystonia, Paralysi... OMIM:272750
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Anteverted nares, Short nose ORPHA:531
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short nose ORPHA:1514
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Hypotonia, Tremor, Rigidity, Oculomotor apraxia, A... OMIM:612438
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Sensory axonal neuropathy, Distal sensory impairment, Prox... OMIM:256850
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L... ORPHA:209335
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Anteverted nares, Unilambdoid synostosis, Ulnar deviation of the... OMIM:618577
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakn... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Scoliosis, Tip-toe gait, Shoulder girdle muscle weakness, Diffi... OMIM:607155
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Sandal gap, Generalized hypotonia, Cerebellar vermis atrophy, Polymicrogyria, Hypoton... OMIM:300354
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Abnormality of the eleventh cranial nerve, Myelopathy, Somatic sen... ORPHA:268882
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Depressed nasal bridge, Shortening of all middle phalanges of the fingers, ... OMIM:226980
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Generalized hypotonia, Difficulty walking, Gait at... ORPHA:529665
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal upper limb amyotrophy, Distal lower limb ... OMIM:614065
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Abnormal motor evoked potentials, Difficulty walking, Speech apraxia, Head tremor, Arachnodactyly... ORPHA:412057
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Generalized hypotonia, Abnormality of coordination, Limb dysto... ORPHA:352649
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Myelopathy, Somatic sensory dysfunction, Lower limb muscle weaknes... ORPHA:79093
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized hypotonia, Tremor, Rigidity, EEG abnormality, Ataxia, Dystonia OMIM:617836
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ... OMIM:616710
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Hippocampal sclerosis, Myoclonus, Tremor OMIM:615400
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Abnormal astrocyte morphology, Enlargement of... ORPHA:83629
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Motor axona... ORPHA:139480
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R... OMIM:300894
Peho-Like Syndrome
Short nose, Tapered finger OMIM:617507
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Complete duplication of proximal pha... ORPHA:363417
Generalized Epilepsy With Febrile Seizures-Plus
Talipes valgus, Tibial torsion, Incoordination, Hypotonia, EEG with spike-wave complexes, Tremor,... ORPHA:36387
Gm1 Gangliosidosis
Spasticity, Hepatosplenomegaly, Weight loss, Ataxia, Unsteady gait, Coarse metaphyseal trabecular... ORPHA:354
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Distal ulnar epiphyseal ... OMIM:609616
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
External ophthalmoplegia, Failure to thrive, Generalized hypotonia, Hypotonia, Gait ataxia, Cache... OMIM:612075
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ophthalmoparesis, Falls, Shoulder girdle muscle weakness, Slender build, Myopathy, Progressive ex... OMIM:615156
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Anteverted nares, Rocker bottom foot, Short nose OMIM:618506
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange... OMIM:618618
Spinocerebellar Ataxia 36
Tongue fasciculations, Skeletal muscle atrophy, Cerebellar atrophy, Fasciculations, Incoordinatio... OMIM:614153
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Opisthotonus, Gait disturbance... ORPHA:216866
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Hypoplastic pubic bone, Metaphyseal wide... OMIM:614524
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Cervical spinal cord atrophy, Limb muscle weakness, Rigidity, Ba... ORPHA:363722
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive e... ORPHA:240103
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Progressive external ophth... ORPHA:98757
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Sialidosis Type 2
Skeletal muscle atrophy, Generalized hypotonia, Splenomegaly, Tremor, Ataxia, Flexion contracture... ORPHA:87876
Flynn-Aird Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Impaired pain sensation, Cachexia, EEG abnorm... ORPHA:2047
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Hypomimic face OMIM:128235
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m... OMIM:117000
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Hypotonia, Ragged-red muscle... ORPHA:480
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Bulbar palsy, Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Ophthalmoparesis, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech ap... ORPHA:99750
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:401815
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Dystonia, Scoliosis OMIM:618244
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Hypotonia, Tremor, Hyperkinetic movements, Abnormality of neuronal migration, Gait di... OMIM:300957
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Kyphosis, Difficulty walking, Astrocytosis, Brain atrophy, Splenomegaly,... ORPHA:90324
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Low hanging columella, Short ... OMIM:617752
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, ... OMIM:620158
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Shuffling gait, Spasticity, Spastic paraparesis, Hand tremor, Motor axonal neuropa... ORPHA:289560
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Inability to walk, Tremor, EEG abnormality, Infantile muscular hypotonia, Brain atrop... OMIM:618718
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto... OMIM:606159
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Prominent nasal bridge, Limited elbow extension and supination, B... ORPHA:401935
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne... ORPHA:320375
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Anteverted nares, Short nose, Delayed cranial suture closure ORPHA:1832
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Deep palmar crease, Broad pal... OMIM:602342
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Combined Oxidative Phosphorylation Deficiency 7
External ophthalmoplegia, Optic atrophy, Facial paralysis, Skeletal muscle atrophy, Failure to th... OMIM:613559
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Dista... OMIM:300863
Pfeiffer Syndrome
Choanal atresia, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneou... OMIM:101600
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Encephalocele, Convex nasal ridge, Short nose OMIM:200130
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle... ORPHA:2822
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis, Cerebral ... OMIM:314580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Global brain atrophy, Cerebral atrophy, Generalized hypotonia, Inability to walk, Fai... OMIM:616801
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Global brain atrophy, Generalized dystonia, Abnormality of somatos... ORPHA:52368
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyram... OMIM:617145
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Postural tremor, Dysmet... OMIM:607694
Distal Symphalangism
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Camptodactyly of f... ORPHA:3248
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Type 1 muscle fibe... ORPHA:171433
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Orthosta... ORPHA:411602
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Short distal phalanx of finger, Choanal atresia, Myelomeningocele, Anteve... ORPHA:1914
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Cerebral atrophy, Polymicrogyria, Inability to walk, Hypotonia, Gait a... OMIM:618877
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Small hand, Muscular dystrophy, Optic atrophy, Failure to thrive, Uppe... OMIM:608799
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Failure to thrive, Hypotonia, Myoclonus, Dysmetria OMIM:618251
Hyperphenylalaninemia, Bh4-Deficient, C
Hypotonia, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Hypotonia, Tremor, Kyphoscolios... OMIM:617664
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Myositis, Clumsiness, Eosinop... OMIM:253600
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Macro... ORPHA:98673
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Sensory axonal neuropathy, Hand tremor, Difficulty walking, Akinesia, Limb at... ORPHA:98764
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Abnorma... ORPHA:2496
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, General... ORPHA:171881
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,... OMIM:261640
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi... ORPHA:3121
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Ataxia-Telangiectasia-Like Disorder 1
Distal amyotrophy, Cerebellar atrophy, Chorea, Hypotonia, Gait ataxia, Dysmetria, Dystonia, Lower... OMIM:604391
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Ga... ORPHA:227510
Developmental And Epileptic Encephalopathy 51
Cerebral cortical atrophy, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Inabil... OMIM:617339
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Tremor, Low back pain, Babinski sign, Abn... ORPHA:447753
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Phenylketonuria
Lower limb spasticity, EEG abnormality, Tremor, Ataxia ORPHA:716
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Generalized hypotonia, Ne... OMIM:616239
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, A... OMIM:614831
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Generalized hypotonia, Hypotoni... OMIM:608931
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, External ophthalmoplegia, Tetraparesis, Inability to walk, Chorea, Gait ataxi... OMIM:607483
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Pro... OMIM:617070
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wide nasal bridge, Abnormal epiphysis morphology, Wrist swelling, Carpal osteolysis, Camptodactyl... ORPHA:2774
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short thumb, Cerebral atrophy, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Ky... OMIM:618453
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy,... OMIM:614678
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypoplastic ischia, Short nose, Polydactyly OMIM:616910
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbow disloca... OMIM:166300
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Madelung deformity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th fing... ORPHA:319675
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Peripheral demyelination, Foot dorsiflexor weakness, Distal sensory impairment... OMIM:607736
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Spasticity, Skeletal muscle atrophy, Generalized hypotonia, Difficulty walking,... OMIM:617695
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Difficulty walking, Inabi... ORPHA:206559
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Radial deviation of the hand, Kyphosis, Generalized hypotonia, Inability to walk, Bra... OMIM:301041
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:98933
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Axial hypotonia, Limb hyperton... ORPHA:70594
Myoclonic-Atonic Epilepsy
Hypotonia, Tremor, Ataxia, Eyelid myoclonus, Scoliosis OMIM:616421
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis ORPHA:2429
Superficial Siderosis
Lower limb muscle weakness, Abnormality of the brachial nerve plexus, Abnormal pyramidal sign, At... ORPHA:247245
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, External ophthalmoplegia, Ophthalmoparesis, Increased variability in muscle fibe... OMIM:164310
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Shuffling gait, Spastic paraplegia, Lower limb muscle weakness, B... OMIM:300266
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cataplexy, Ina... OMIM:617193
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Global brain atrophy, Failure to thrive, Appendicular spasticity, Kyphoscoli... OMIM:260600
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
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
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Focal EEG discharges with secondary generalizat... ORPHA:3077
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Akinesia, Paresthesia, Cogwhe... ORPHA:97349
Developmental And Epileptic Encephalopathy 42
Generalized hypotonia, Tremor, EEG abnormality, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Small hand, Tremor, Waddling gait OMIM:616269
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... OMIM:607088
Spinocerebellar Ataxia 42
Cerebellar atrophy, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spast... OMIM:616795
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Lower limb muscle weakness, Periventricular nodular heterotopia, Ob... OMIM:619737
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Long hallux, Anteverted nares, Short nose, Tapered finger OMIM:619854
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Brachydactyly, Split hand, Convex nasal ridge, Craniosynostosis, S... ORPHA:2145
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short toe, Widely spaced toes, Cervical spinal... OMIM:301900
X-Linked Cerebral Adrenoleukodystrophy
Global brain atrophy, Myelopathy, Limb myoclonus, Difficulty walking, Inability to walk, Hamstrin... ORPHA:139396
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Umbilical hernia, Anteverted nares, Short columella, Bowi... ORPHA:171839
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Single transverse palmar crease,... OMIM:613604
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures OMIM:611369
Niemann-Pick Disease, Type A
Spasticity, Skeletal muscle atrophy, Failure to thrive, Sea-blue histiocytosis, Inability to walk... OMIM:257200
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Distal sensory impairm... OMIM:606693
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Cold paresis, Fasciculations, Hand muscle weakness, Tremor, Intrinsic... ORPHA:99965
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sig... ORPHA:477673
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Short toe, Camptodactyly ... ORPHA:1327
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Gait disturbance, Joint contra... OMIM:616516
Infantile Krabbe Disease
Hyperesthesia, Delayed brainstem auditory evoked response conduction time, Spasticity, Optic atro... ORPHA:206436
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Genu valgum, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Hypopl... ORPHA:239
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Myopathy, Generalized muscle weakness, Proximal muscle weakness, Talipes eq... ORPHA:98915
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphal... OMIM:186500
Presynaptic Congenital Myasthenic Syndromes
Difficulty walking, Neck muscle weakness, Intermittent episodes of respiratory insufficiency due ... ORPHA:98914
Congenital Myasthenic Syndrome
Difficulty walking, Neck muscle weakness, Intermittent episodes of respiratory insufficiency due ... ORPHA:590
Non-Distal Duplication 10Q
Depressed nasal bridge, Convex nasal ridge, Short nose ORPHA:1695
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va... OMIM:620138
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Narrow nasal bridge, Prominent nasal bridge, Ap... ORPHA:1225
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn... OMIM:185800
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Decreased nerve conduction velocity, Distal sensory impairment, Peripheral axo... OMIM:608895
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Difficulty walking, Speech apraxia, Proximal muscle weakness, Ata... OMIM:615356
Chung-Jansen Syndrome
Anteverted nares, Hip dysplasia, Clinodactyly of the 5th finger, Short nose, Tapered finger OMIM:617991
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Generalized hypotonia, Infantile axial hypotonia... OMIM:618578
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Single transverse palmar crease, Talip... OMIM:613544
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Antevert... OMIM:617201
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide nasal bridge, Depressed nasal bridge, Delayed epiphyseal ossification, Short toe, Rhizo-meso... OMIM:611717
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Hypotonia, Type 1 muscle fiber predominance, Weak... OMIM:620161
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Skeletal muscle atrophy, Limb myoclonus, Hand tremor, Fasciculations, Diff... ORPHA:276198
Facioscapulohumeral Muscular Dystrophy 1
External ophthalmoplegia, Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skel... OMIM:158900
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Congenital Myopathy 22A, Classic
External ophthalmoplegia, Proximal muscle weakness in lower limbs, Increased variability in muscl... OMIM:620351
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Clinodactyly of the 5th finger, Short nose, Syndactyly OMIM:619736
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Congenital hip dislocation, Cerebral cortical atrophy, Skeletal muscle atrophy, K... OMIM:618291
Neutral Lipid Storage Disease With Ichthyosis
Central nervous system degeneration, Shoulder girdle muscle weakness, Difficulty walking, Myopath... ORPHA:98907
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Increased variability in mu... OMIM:255320
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Micromelia, Wide di... OMIM:613320
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, ... OMIM:613885
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypotonia, Splenomegaly, Rhabdomyolysis, Increased body weight, Progress... ORPHA:79240
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Increased variability in muscle fiber diameter, Proximal muscle weaknes... ORPHA:98905
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encepha... OMIM:241800
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Abnormal cra... ORPHA:247234
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... ORPHA:289494
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Depressed nasal bridge, Hemiatrophy of upper limb, Anteverted nares, Delayed pate... ORPHA:163649
Cerebral Creatine Deficiency Syndrome 2
Hypotonia, Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, I... OMIM:612736
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Choanal atresia, Anteverted nares, Long fingers, Short... ORPHA:1895
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, EEG abnormality, Tremor, Ataxia OMIM:617831
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose, Metopic synostosis OMIM:300581
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Slender finger, Skeletal muscle atrophy, Cerebellar atrophy, Generalized hypotonia, Hypotonia, De... OMIM:300243
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Genu valgum, Abnormal metacarpal morphology, Brachydacty... ORPHA:1295
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Abnormality of the knee, Tibial metaphyseal... ORPHA:457395
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ophthalmoparesis, Decreased motor nerve conduction velocity, Decreased ... ORPHA:298
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Limb dystonia, Gait ataxia, ... ORPHA:363400
Schneckenbecken Dysplasia
Hypoplastic scapulae, Umbilical hernia, Advanced tarsal ossification, Limb undergrowth, Dumbbell-... OMIM:269250
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Limb-gir... ORPHA:206549
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip pads, Sandal g... OMIM:618529
Achondrogenesis Type 1B
Micromelia, Umbilical hernia, Anteverted nares, Talipes equinovarus, Short foot, Short nose ORPHA:93298
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... OMIM:607791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of the calcane... ORPHA:163966
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Substantia nigra gliosi... OMIM:168600
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Limb hypertonia, EEG abnormality, Dyston... OMIM:618247
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor... ORPHA:321
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Neonatal hypotonia, Hypotoni... OMIM:614871
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones, Bea... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad femoral neck, Upper limb undergrowth, Genu valgum, Limited elbow extension, Coxa vara, Meta... OMIM:271650
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Gowers sign, Shoulder girdle muscle weakness, Difficulty walking, Neck muscle we... ORPHA:98908
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Short nose, Tapere... OMIM:613870
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Camptodactyly of finger ORPHA:1495
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Rett Syndrome
Skeletal muscle atrophy, Failure to thrive, Abnormal muscle tone, Difficulty walking, Inability t... ORPHA:778
Choreoacanthocytosis
Resting tremor, Muscle fiber atrophy, Limb dystonia, Acanthocytosis, Myopathy, Loss of ambulation... ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Unsteady gait, Scoliosis, Kyphosis OMIM:300861
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Loss of ambulat... OMIM:604286
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Foot polydactyly, Short nose, Preaxial hand polydactyly ORPHA:210548
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Hypotonia, Splenomegaly, Increased body weight, Abnor... ORPHA:264580
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Waardenburg Syndrome, Type 3
Wide nasal bridge, Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly ... OMIM:148820
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape... OMIM:300232
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Tremor, Gait disturbance, Hyperlordosis, Hypertonia, Anemia ORPHA:1192
Developmental And Epileptic Encephalopathy 32
EEG with spike-wave complexes (2.5-3.5 Hz), Hypotonia, Myoclonus, Tremor, Ataxia OMIM:616366
Legg-Calvé-Perthes Disease
Joint dislocation, Skeletal muscle atrophy ORPHA:2380
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Distal upper limb muscle weakness, Spastic paraparesis, Difficulty ... OMIM:500013
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Kyphoscoliosis, Loss of ambulatio... ORPHA:466722
Ataxia-Telangiectasia
Spasticity, Skeletal muscle atrophy, Failure to thrive, Lymphopenia, Tremor, Gait disturbance, At... ORPHA:100
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Multiple palmar creases, Short nose OMIM:611936
Episodic Ataxia Type 1
Hand clenching, Cerebellar atrophy, Tip-toe gait, Kyphoscoliosis, Clumsiness, Calf muscle hypertr... ORPHA:37612
5Q14.3 Microdeletion Syndrome
Anteverted nares, Toe syndactyly, Short nose ORPHA:228384
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Difficulty walking, Motor axonal neuropathy, Generalized muscle weakn... ORPHA:365
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Myoclonus, Ganglioneuroma, Weight loss, Spinal cord compression, Horner syndro... OMIM:256700
Cog8-Cdg
Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Myoclonus, Chronic axonal neuropa... ORPHA:95428
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Cerebral atrophy, Episodic ataxia, Generalized hypotonia, Hypotonia, M... OMIM:312170
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... ORPHA:363654
Microhydranencephaly
Skeletal muscle atrophy, Pachygyria, Multiple joint contractures, Talipes equinovarus, Poor head ... OMIM:605013
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Dystonia... ORPHA:324588
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Hypopla... OMIM:618395
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger ORPHA:2547
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Pulmonary Blastoma
Weight loss ORPHA:64741
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Postaxial hand polydactyly ORPHA:1389
Achondrogenesis Type 1A
Micromelia, Umbilical hernia, Anteverted nares, Short nose, Short foot, Short palm ORPHA:93299
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordina... ORPHA:297
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Peripheral axonal neuropathy, ... OMIM:156530
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormality of extrapyramidal ... OMIM:619527
Neuropathy, Congenital Hypomyelinating, 3
Hand clenching, Spasticity, Arthrogryposis multiplex congenita, Decreased motor nerve conduction ... OMIM:618186
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Peripheral axonal neuropathy, Spastic... ORPHA:496790
Odontochondrodysplasia 1
Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epi... OMIM:184260
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Fasciculations, Generalized limb muscle atrophy, Impaired vibration s... ORPHA:521411
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Arachnodactyly, Talipes equinovarus, Adducted thumb, Camptod... OMIM:615539
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Flared metaphysis, Advanced ossification of carpal bones, Squ... OMIM:215045
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Episodic flaccid weakness, Respiratory paralysis, Paralysis, Increa... ORPHA:681
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Depressed nasal bridge, Metaphyseal dysplasia, Craniosynostosis, Short nose OMIM:614732
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:... OMIM:253601
Al-Raqad Syndrome
Sandal gap, Brachydactyly, Short nose OMIM:616459
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gai... OMIM:614381
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Cerebral atrophy, Tremor, Hypsarrhythmia, Limb hypertonia, Axial hypotonia OMIM:617162
Hyperkalemic Periodic Paralysis
Ophthalmoparesis, Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic ... ORPHA:682
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Radial bowing, Difficulty walking, Premature osteoarthritis, ... ORPHA:93314
Tetrasomy 18P
Large hands, Short nose ORPHA:3307
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Decreased nerve conduction velocity, Cachexia, Ataxia, Abnormality of vi... ORPHA:1933
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Difficulty walking, Proximal muscle weakness, Proximal amyotrophy, Calf muscl... OMIM:601287
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Hypotonia, Gait ataxia, L... OMIM:620089
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Neonatal hypotonia, Generalized hypotonia, Tremor, Dysmetria, Oculomotor apra... OMIM:614867
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Skeletal muscle atrophy, Hypotonia, Decreased proportion of CD4-positive T cells, ... ORPHA:477814
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Congenital bilateral hip dislocation, Kyphosis, Small for gestational age ORPHA:85288
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh... OMIM:255800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Short distal ph... OMIM:619356
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... OMIM:612953
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Abnormal cortical gyration, Skeletal muscle atrop... OMIM:616867
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Prominent fingertip pads, Short nose OMIM:300558
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Elbow dislocation, Knee dislocation, Small epiphyses, Adducted thumb, Short long bone, Advanced o... OMIM:620269
Codas Syndrome
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Abnor... ORPHA:1458
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Muscular dystrophy... OMIM:253700
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy, Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal ne... OMIM:615217
Laurin-Sandrow Syndrome
Depressed nasal ridge, Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand... ORPHA:2378
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Optic atrophy, Spasticity, Erlenmeyer flask deformity of the femurs, Pl... OMIM:618476
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Abnormal pyram... OMIM:615419
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Paraplegia, Babinski sign, Per... OMIM:270700
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Somatic sensory dysfunction, Generalized hypotoni... ORPHA:502423
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebral atrop... OMIM:616420
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Abnormal cortical gyration, Postaxial foot polydactyly, Contractures of the large ... ORPHA:521426
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Flattened proximal radial epiphyses, Kyphosis, Squared-off platyspondyly, Interver... OMIM:271530
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Genu valgum, Cubitus valgus, Metaphyseal striations, Sle... OMIM:608154
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Skeletal muscle atrophy, Optic atrophy, Ce... OMIM:614969
Hyperphenylalaninemia, Bh4-Deficient, B
Generalized hypotonia, Hypotonia, Tremor, Rigidity, Hyperkinetic movements, Severe muscular hypot... OMIM:233910
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Broad-based gait, Skeletal muscle atrophy, Contractures of the large joints,... OMIM:616716
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Branchial cyst, Anteverted na... OMIM:615583
Opsismodysplasia
Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Brachydactyly, Hypoplastic pu... ORPHA:2746
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br... OMIM:168605
Camurati-Engelmann Disease
Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dysplasia, Ataxia, A... ORPHA:1328
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, Broad thumb, Skeletal muscle atrophy, Broad hallux, Failure to thrive, Global brain a... ORPHA:481152
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... ORPHA:397744
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Broad phalanges of the hand, Postaxial foot polydactyly, Hypoplasia of the o... ORPHA:508533
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short 5th finger, Slender finger, Small hand, Spasticity, Cerebellar atrophy, Cerebral atrophy, I... OMIM:618443
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Proximal femoral epiphysiolysis, Overlapping toe, Femoral bowing, Limited... OMIM:616723
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Spasticity, Optic atrophy, Skeletal muscle atrophy, Scoliosis, Catapl... ORPHA:496641
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Depressed nasal brid... ORPHA:503
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, S... ORPHA:439822
Achondrogenesis
Anteverted nares, Micromelia, Short nose, Umbilical hernia ORPHA:932
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Talipes equ... OMIM:619859
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Inability to walk, Hypotonia, Tremor, Hypertonia, Ataxia OMIM:619556
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Bradykinesia, Tremor, Rigidity, Dystonia, Supran... ORPHA:683
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Camptodactyly, Short nose OMIM:610015
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Ophthalmoparesis, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ata... ORPHA:101
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Spasticity, Hypotonia, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormality... ORPHA:79279
Familial Cervical Artery Dissection
Paralysis, Paresthesia, Facial palsy ORPHA:36382
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Spasticity, Congenital contracture, Kyphosis, Cerebral palsy, Gene... ORPHA:352490
Lissencephaly 8
Optic atrophy, Skeletal muscle atrophy, Polymicrogyria, Type II lissencephaly, Appendicular spast... OMIM:617255
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip, Short nose OMIM:615716
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Generalized hypotonia, Incoordination, Tremor, Pontocerebellar atrophy, Oculomotor apraxia, Abnor... OMIM:618060
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Brachydactyly, Short nose, Abnormality of the elbow ORPHA:2701
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Tetraparesis, Talipes equinovarus... OMIM:616827
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Generalized hypotonia, Difficu... OMIM:617675
Bartsocas-Papas Syndrome
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae,... ORPHA:1234
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Pterygium Colli, Isolated
Short nose OMIM:177990
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Gene... OMIM:613723
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Ataxia, Babinski sign, Limb joint contracture, Flexion contracture, Skeletal muscle a... OMIM:301072
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Joint contracture of the hand, Joint dislocation, Shoulder flexion contracture... OMIM:193700
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Cerebral atrophy, EEG with burst suppression, Hypotonia, Tremor, Hypsarrhythm... OMIM:612164
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hyperesthesia, Small hand, Neonatal hypotonia, Elbow flexion contracture, Hypotonia, EMG: myopath... ORPHA:371364
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ophthalmoparesis, Scoliosis, Skeletal muscle atrophy, Neck muscle weakness, Hypotonia, Fatigable ... OMIM:617143
Adenylosuccinase Deficiency
Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia,... OMIM:103050
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness, Acanthocytosis, Parkinsonism, Self-mutilation of t... OMIM:200150
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Hypotonia, Cubitus valgus, Gait disturbance, Kyphosis ORPHA:1875
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Clinodact... OMIM:618658
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypotonia, Fatigable weakness, Myopathy, Proximal muscle weakness, Fatig... ORPHA:42
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ... ORPHA:391372
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Dysplasia of the femoral head, Shor... OMIM:616854
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Weight loss ORPHA:141152
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Neonatal hypotonia,... OMIM:617258
Alexander Disease
Spasticity, Failure to thrive, Chorea, Hypotonia, Tremor, Short neck, Gait disturbance, Abnormal ... ORPHA:58
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy, Kyphoscoliosis, Severe muscular hypotonia, Poor head control, ... ORPHA:300179
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Aids Wasting Syndrome
Cachexia, Weight loss, Skeletal muscle atrophy ORPHA:90081
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, ... ORPHA:95433
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndacty... ORPHA:93259
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Distal amyotrophy, Sandal gap, Failure to thrive in infancy, Decreased nerve co... ORPHA:477817
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Muscle weakness, Arthritis ORPHA:139436
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Orthos... OMIM:146500
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Short nose, Delayed cranial suture closure ORPHA:1129
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy, Hypotonia ORPHA:1216
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Ulnar deviation of the hand, Short nose, Narrow naris OMIM:122880
Hemifacial Atrophy, Progressive
Kyphosis, Horner syndrome, Ataxia OMIM:141300
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Pyruvate Dehydrogenase Deficiency
Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Hypotonia, T... ORPHA:765
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Carpal bone hypoplas... OMIM:250420
Srd5A3-Cdg
Optic atrophy, Cerebellar atrophy, Microcytic anemia, Infantile muscular hypotonia, Ataxia, Abnor... ORPHA:324737
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Cerebellar atrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Pr... OMIM:615084
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Cerebral cortical atrophy, Abnormal cortical gyration, Contractures of the large j... OMIM:617527
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Clinodactyly of the 5th finger, Sho... OMIM:618828
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Hypotonia, Large hands, Scoliosis, Kyphosis, Tapered finger ORPHA:276630
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Broad-based gait, Sandal gap, Camptodactyly of finger, Obesity, Tremo... ORPHA:85293
Wilson Disease
Proximal muscle weakness in lower limbs, Failure to thrive, Difficulty walking, Joint swelling, S... ORPHA:905
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va... OMIM:620286
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Kyphosis, Talipes equinovarus, Short foot, Scoliosis, Hip dislocation OMIM:300434
Pelger-Huet Anomaly
Short 3rd metacarpal, Giant platelets, Failure to thrive, Upper limb undergrowth, Short 5th metac... OMIM:169400
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Hypersegmentation of neutrophil nuclei, Hypotonia, Macrocytic anemia, Tr... OMIM:615578
Fibrochondrogenesis 1
Hypoplastic ischia, Depressed nasal bridge, Joint contracture of the hand, Small hand, Rhizomelia... OMIM:228520
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... ORPHA:98773
C Syndrome
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda... OMIM:211750
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Overlapping toe, Overlapping fingers, Prominent nose, ... OMIM:618316
Trigonocephaly 1
Wide nasal bridge, Craniosynostosis, Short nose, Metopic synostosis OMIM:190440
Leigh Syndrome
Spasticity, Myopathy, Ophthalmoplegia, Hypsarrhythmia, Neutropenia, Ataxia, Athetosis, Choreoathe... ORPHA:506
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss, Neuronal loss in central nervous system, Abnormal autonomic nervo... OMIM:600072
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Prominent nasal bridge, Bilateral single tran... ORPHA:2083
Autosomal Dominant Progressive External Ophthalmoplegia
External ophthalmoplegia, Resting tremor, Limb muscle weakness, Myopathy, Ophthalmoplegia, Periph... ORPHA:254892
Antley-Bixler Syndrome
Choanal atresia, Camptodactyly of finger, Delayed cranial suture closure, Anteverted nares, Femor... ORPHA:83
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Cerebral palsy, Generalized hypotonia, Hypertonia, Clinodactyly of the 5th finger, Scol... OMIM:615834
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Sandhoff Disease
Ataxia, Spasticity, Skeletal muscle atrophy, Fasciculations, Impaired temperature sensation, Hepa... OMIM:268800
Desbuquois Dysplasia 2
Toe clinodactyly, Depressed nasal bridge, Epiphyseal dysplasia, Broad thumb, Hip dislocation, Kne... OMIM:615777
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Decreased muscle mass, Neurodegeneration, Acanthocytosis, Myopathy, Parkinsonism, Abn... OMIM:234200
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... OMIM:617069
Non-Functioning Paraganglioma
Cranial nerve compression, Tremor, Weight loss, Vocal cord paralysis, Paraganglioma of head and n... ORPHA:94080
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Prominent fingertip pads, Bulbous nose, Clinodactyly of the 4th finger, 2-3 toe... ORPHA:485405
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Sacrococcygeal pilonidal abnormality, Gait disturbance, Spina bifida occ... ORPHA:2840
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Congenital hip dislocation, Joint contracture of the hand, Distal amyotrophy, Foot joint contract... ORPHA:456312
Chediak-Higashi Syndrome
Hemophagocytosis, Neurodegeneration, Decreased nerve conduction velocity, Leukopenia, Giant neutr... OMIM:214500
L1 Syndrome
Spasticity, Skeletal muscle atrophy, Hemiplegia/hemiparesis, Aganglionic megacolon, Gait disturba... ORPHA:275543
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, External ophthalmoplegia, Increased variability in muscle fiber diameter, Postur... OMIM:619790
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Neck muscle hypertrophy, Difficulty walking, Head ... ORPHA:420492
Perlman Syndrome
Wide nasal bridge, Anteverted nares, Bilateral single transverse palmar creases, Short nose ORPHA:2849
Coffin-Lowry Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Optic atrophy, Skeletal muscl... ORPHA:192
Neuraminidase Deficiency
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Myoclonus, Splenomegaly, Dysmetria, Va... OMIM:256550
Arthrogryposis, Distal, Type 5
Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Ophth... OMIM:108145
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Leg muscle stiffness, Progressive spastic paraparesis, Incoordinatio... ORPHA:43
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Depressed nasal bridge, Rhizomelia, Short nose, Bulbous nose, Genu valgum, Limited elb... OMIM:271510
Ck Syndrome
Generalized hypotonia, Polymicrogyria, Slender build, Abnormal digit morphology, Hyperlordosis, P... OMIM:300831
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hip subluxation, Myoclonus, Hypsarrhythmia,... ORPHA:500144
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the capital femoral ... OMIM:617425
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose OMIM:137550
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Clinodact... ORPHA:101000
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Arachnodactyly, Gait disturbance, Adducted thumb, Shoulder dislocation, Scoliosis, Ky... ORPHA:2181
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Talipes equinovarus, Aplasia/Hy... OMIM:108720
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Camptodactyly, Rocker bottom foot, Arthrogryposis multiplex ... OMIM:618393
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Cerebell... OMIM:619272
Acute Disseminated Encephalomyelitis
Myelitis, Involuntary movements, Somatic sensory dysfunction, EEG with generalized slow activity,... ORPHA:83597
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy... OMIM:168601
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hypotonia, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Overweight, Upper limb spas... ORPHA:457240
X-Linked Creatine Transporter Deficiency
Chorea, Hypotonia, Aganglionic megacolon, Cachexia, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Broad nasal tip, Block vertebrae, C... OMIM:272460
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Short nose OMIM:300887
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Ataxia, Flexion contracture, Scoliosis, Brain atrophy OMIM:278760
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Scoliosis, Clinodactyly, Neonatal hypotonia, Inability to walk, F... OMIM:615547
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Clinodactyly, Umbilical hernia, Bulbous nose, Abnormal... ORPHA:369891
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Slender long bone, Anteverted nares, Cubitus valgus, Spina bifida occulta, Short... ORPHA:1185
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Oculomotor apraxia, Clinodactyly of the 5th finger, Scoliosis, Conge... ORPHA:3454
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Progres... ORPHA:368
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypotonia, Tremor, Postaxial polydactyly, Gait disturbance, Abnormality of pain sensation, Ataxia... ORPHA:544254
Amyotrophy, Monomelic
Upper limb muscle weakness, Cold paresis, Fasciculations, Interosseus muscle atrophy, Cervical sp... OMIM:602440
Glutathionuria
Gray matter heterotopia, Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Skeletal muscle hypertrophy, Difficult... OMIM:300280
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenita... OMIM:130060
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Congenital contracture, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Knee dislocation, Small epiphyses, Genu valgum, Hip contracture, Short long bone, Flattened epiph... OMIM:618363
Aicardi-Goutieres Syndrome 9
Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Spastic tetraparesis, Hepatosplen... OMIM:619487
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Clinodactyly, Radial deviation of finger, Anteverted nares, ... OMIM:305400
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Optic atrophy, Neonatal hypotonia, Normochromic microcytic anemia, Action... ORPHA:66634
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Bulbous nose, Anteverted nares, Bilateral single transve... ORPHA:261211
9q subtelomeric deletion syndrome
Anteverted nares, Short nose DECIPHER:52
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Osteoarthritis, Abnormal epiphysis morphology, Short nose ORPHA:90653
Alkuraya-Kucinskas Syndrome
Hand clenching, Depressed nasal bridge, Clinodactyly, Overlapping toe, Overlapping fingers, Antev... OMIM:617822
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Spinal rigidity, Platyspondyly, Kyphosis, ... ORPHA:94068
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Hypotonia, Tremor, Babinski sign, Limb hypertonia, EEG abno... ORPHA:35708
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Pfeiffer Syndrome
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip... ORPHA:710
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Hypotonia, Myopathy, Anemia, Scoliosis, Kyphosis ORPHA:2598
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ... OMIM:223800
Madras Motor Neuron Disease
Optic atrophy, Distal amyotrophy, Limb fasciculations, Bulbar palsy, Babinski sign, Distal muscle... ORPHA:137867
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Muscle weakness, Axonal degeneration OMIM:106100
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Arachnoid Cyst
Lower limb muscle weakness, Oculomotor nerve palsy, Inability to walk, Spinal arachnoid cyst, Tet... ORPHA:2356
Variegate Porphyria
Paralysis OMIM:176200
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Broad hallux, Bulbous nose, Anteverted nares, Single transverse palmar cr... OMIM:614105
Fucosidosis
Beaking of vertebral bodies, Anterior beaking of lumbar vertebrae, Absent/hypoplastic coccyx, Spa... OMIM:230000
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Joint dislocation, Micromelia, Abnormal diaphysis morphology, Failure to thrive, Hypo... ORPHA:1842
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with generalized slow activity, EEG ... ORPHA:1942
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Delayed cranial suture closure, Overlapping toe, Narrow nasal... OMIM:619383
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Bulbous nose, Single transverse palmar cre... OMIM:617061
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... OMIM:608768
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Optic disc pallor, Cerebral atrophy, Inability to walk, Chorea, ... ORPHA:404454
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Kyphosis, Cerebellar atrophy, Polymicrogyria, Lymphopenia, Overlapping fingers, Kn... OMIM:619708
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Bulbous nose, Clinodactyly of the 5th finger, Short nose, Tap... OMIM:618430
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Neonatal hypotonia, Hepatosplenomegaly, Peripheral demyelination... OMIM:609136
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle, Carpal synostosis ORPHA:2010
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Flared metaphysis, Decreased fibular diameter, Anteverted nares, Wormian bones... OMIM:616897
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Myoclonus, Thrombocytopenia, Ataxia, Slurred speech OMIM:274240
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Short finger, Knee flexion contracture, Hip contracture, Tapered finger, Thoracolu... OMIM:313420
Den Hoed-De Boer-Voisin Syndrome
Small hand, Spasticity, Decreased body weight, Hypsarrhythmia, Ataxia, Short foot, Global brain a... OMIM:619229
Stuve-Wiedemann Syndrome 1
Wide nasal base, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic ilia... OMIM:601559
Anauxetic Dysplasia 1
Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow flexion contractu... OMIM:607095
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Axial muscle weakness, S... ORPHA:178148
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Infantile axial hypotonia, Limb dystoni... ORPHA:572798
Rett Syndrome, Congenital Variant
Spasticity, Neonatal hypotonia, Generalized hypotonia, Chorea, Talipes equinovarus, Apraxia, EEG ... OMIM:613454
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Clinodactyly of the 5th finger, Shor... OMIM:249620
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial in... OMIM:183900
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Delayed ossification of carpal bones, Hypoplas... ORPHA:168549
Pfeiffer Syndrome Type 3
Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Depressed nasal brid... ORPHA:93260
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... OMIM:142900
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Genu valgum, Ov... OMIM:253000
Diamond-Blackfan Anemia 8
Wide nasal bridge, Short nose OMIM:612563
Qazi-Markouizos Syndrome
Prominent nasal bridge, Delayed ossification of carpal bones, Tapered finger ORPHA:3010
Hypomelanosis Of Ito
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Hand polydactyly, Gray matter heterot... OMIM:300337
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Narrow pelvis bone, Long hallu... OMIM:600002
Myopathy With Lactic Acidosis, Hereditary
Ophthalmoparesis, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Diffic... OMIM:255125
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hyperton... OMIM:618056
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Hip dysplasia, Finger joint hypermobility, Metacarpophalangeal joint contrac... ORPHA:544503
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Myopathy, Knee flexion contracture, Loss of a... OMIM:310300
Non-Distal Duplication 13Q
Arachnodactyly, Short nose, Postaxial hand polydactyly ORPHA:1702
Trisomy 12P
Wide nasal bridge, Clinodactyly of the 5th finger, Large hands, Short nose ORPHA:1699
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
EEG with abnormally slow frequencies, Optic atrophy, Generalized hypotonia, Elbow flexion contrac... OMIM:618493
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Short foot, Short met... OMIM:166250
Solitary Bone Cyst
Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lytic defects of the radius, Ab... ORPHA:83468
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synost... ORPHA:90652
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Idiopathic Achalasia
Weight loss ORPHA:930
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Cerebral cortical atrophy, L... OMIM:615530
Joubert Syndrome
Abnormal form of the vertebral bodies, Polymicrogyria, Hypotonia, Tremor, Abnormality of neuronal... ORPHA:475
Hand-Foot-Genital Syndrome
Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ... OMIM:140000
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Small for gestational age, Failure to ... OMIM:615471
Marshall Syndrome
Depressed nasal bridge, Hypoplastic ilia, Radial bowing, Short nose, Irregular femoral epiphysis,... OMIM:154780
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia, Kyphosis OMIM:609384
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling o... OMIM:252600
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Spasticity, Cerebellar atrophy, Neonatal hypotonia, Cerebral atrophy, Leukopenia, Hyp... OMIM:616271
Classic Multiminicore Myopathy
Spinal rigidity, Muscular dystrophy, Failure to thrive, Generalized hypotonia, Intermittent episo... ORPHA:324604
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... OMIM:605282
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Knee flexion contracture, Hip contracture, Thoracolumbar scoliosis, Musc... OMIM:606631
Neuroblastoma
Myoclonus, Antalgic gait, Weight loss, Spinal cord compression, Thrombocytopenia, Ataxia, Anemia,... ORPHA:635
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Triphalangeal thumb, Ro... ORPHA:3078
Parkinson-Dementia Syndrome
Ophthalmoparesis, Tremor, Rigidity, Kyphoscoliosis, Parkinsonism, Abnormal pyramidal sign OMIM:260540
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Abnormality of... ORPHA:221098
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Global brain atrophy, Myelopathy, Tetraparesis, Hypotonia, Tremor, Rigidity,... OMIM:617186
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Coronal craniosynostosis, Anteverted nares... OMIM:145420
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Genu recurvatum, Spasticity, Slender build, Myoclonus, Babinski sign, Facial ... ORPHA:364028
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Anteverted nares, Down-sloping shoulders, Slender toe, Deviation of... ORPHA:391408
Saccharopinuria
Tremor, Gait ataxia, Distal sensory impairment, Spastic diplegia ORPHA:3124
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Depressed nasal bridge, Clinodactyly, Underdeveloped nasal alae, ... OMIM:615866
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Clinodactyly, Umbilical hern... OMIM:616331
Diencephalic Syndrome
Optic atrophy, Cachexia, Large hands, Decreased body weight ORPHA:1672
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Short toe, Short 5th metacarpal, Anteverted nares, Spina bifida occulta, Clinodactyly... OMIM:617877
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnormal femoral metaphys... OMIM:200600
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Cerebellar atrophy, Cerebral atrophy, Dislocation of the femoral head... OMIM:619797
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Radioul... OMIM:614701
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness, Paralysis, Hemol... OMIM:612300
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Cerebellar atrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, My... ORPHA:352447
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Narrow nasal br... ORPHA:896
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Obesity, Gait imbalance, Myoclonus, Limit... ORPHA:98794
Larsen Syndrome
Depressed nasal bridge, Hip dislocation, Elbow dislocation, Accessory carpal bones, Knee dislocat... OMIM:150250
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Sjögren-Larsson Syndrome
Spasticity, Hypotonia, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Short nose, Syndactyly OMIM:618087
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Hypoplasia of t... OMIM:253010
Intestinal Dysmotility Syndrome
Hypotonia, Weight loss, Failure to thrive OMIM:620045
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Popliteal pterygium, Axillary pterygium, S... OMIM:258315
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkins... OMIM:616840
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hemolytic anemia, Periodic paralysis, Hand tremor, Generalized muscle weakness OMIM:609153
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto... OMIM:613280
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose, Syndactyly OMIM:616430
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Brachydactyly, Short nose, Wide nose OMIM:614261
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Spasticity, Temporal cortical atrophy, Skeletal muscle atrophy, Generalized hypotonia, Interictal... OMIM:618862
Deafness, X-Linked 5, With Peripheral Neuropathy
Unsteady gait, Skeletal muscle atrophy, Distal sensory impairment, Sensory axonal neuropathy OMIM:300614
Hypokalemic Periodic Paralysis, Type 1
Hypotonia, Episodic flaccid weakness, Myopathy, Periodic paralysis, Muscle weakness OMIM:170400
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad long bones, Broad phalanx, Short metacarpal, Short nose, Depressed nasal ridge, Enlarged na... OMIM:271665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Optic atrophy, Muscular dystrophy, Skeletal muscle atrophy, Generalized hypotonia,... OMIM:253800
Bcard Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the capital fe... OMIM:612394
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Global brain atrophy, Failure to thrive, EEG with burst suppression, Hypo... OMIM:615574
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose OMIM:618774
2P15P16.1 Microdeletion Syndrome
Toe clinodactyly, Optic atrophy, Optic nerve hypoplasia, Sandal gap, Failure to thrive, Camptodac... ORPHA:261349
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Wide nasal bridge, Clinodactyly, Prominent fingertip pads, Sandal g... ORPHA:96148
Peho Syndrome
Short nose, Tapered finger OMIM:260565
Acrofacial Dysostosis, Catania Type
Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bifida occulta, ... ORPHA:1786
Weiss-Kruszka Syndrome
Anteverted nares, Single transverse palmar crease, Clinodactyly of the 5th finger, Proximal place... OMIM:618619
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Umbilical hernia, Deep palmar... OMIM:616638
Camurati-Engelmann Disease
Skeletal muscle atrophy, Cranial nerve compression, Slender build, Genu valgum, Optic nerve compr... OMIM:131300
Sneddon Syndrome
Lymphopenia, Hemiplegia, Tremor, Impaired distal tactile sensation, Facial palsy OMIM:182410
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Short nose OMIM:620292
Early Infantile Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Short finger, Episodic ataxia, Broad phalanx o... ORPHA:1934
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal nerve conduct... ORPHA:2926
Frontofacionasal Dysplasia
Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Encephalocele, D... ORPHA:1791
Spinal Cord Injury
Spasticity, Somatic sensory dysfunction, Spinal cord lesion, Syringomyelia, Weakness due to upper... ORPHA:90058
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Skeletal muscle atrophy, Opisthotonus, Hypertonia, Axial hypotonia OMIM:616896
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Micromelia, Broad long bones, Encephalocele, Bowing of the long bo... OMIM:224400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose OMIM:614069
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Spinal arteriovenous malformation, Kyphoscoliosis, Parapares... ORPHA:53721
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Sandal gap, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Fetal Trimethadione Syndrome
Depressed nasal bridge, Bilateral single transverse palmar creases, Short nose ORPHA:1913
4Q21 Microdeletion Syndrome
Small hand, Toe syndactyly, Micromelia, Hypotonia, Tremor, Short neck, Short foot, Scoliosis, Kyp... ORPHA:238750
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Underdeveloped nasal alae, Anteverted nares, Clinodactyly of the 5th finger, Meningocele, Short nose ORPHA:2031
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Short hallux, Short nose, Palmoplantar keratoder... ORPHA:2710
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Anteverted nares, Bowing of the long bones, Craniosynostosis,... ORPHA:561
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Tremor, Myopathy, Rhabdomyolysis, Ataxia, Hemolytic anemia, Decreased hemoglobin... ORPHA:713
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Failure to thrive, Abnormality of the spleen, Hypotonia, Tremor, Syringo... ORPHA:94063
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Short ... ORPHA:93346
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Triphalangeal thumb, Short nose, Depressed nasal ridge ORPHA:1912
Rhombencephalosynapsis
Finger syndactyly, Anteverted nares, Polydactyly, Short phalanx of finger, Short nose, Complete d... ORPHA:59315
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Limited elbow extension, Abnormal na... ORPHA:363659
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Spastic pa... ORPHA:167
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus,... ORPHA:95699
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Galactose Epimerase Deficiency
Hypotonia, Weight loss, Splenomegaly ORPHA:79238
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, EEG abnormality, Hypertonia, Scoliosis, Kyphosis ORPHA:2617
Metachromatic Leukodystrophy
Tip-toe gait, Decerebrate rigidity, Incoordination, Decreased nerve conduction velocity, Tremor, ... ORPHA:512
Opsismodysplasia
Hypoplastic ischia, Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Anteverted nares, Hy... OMIM:258480
Laryngeal Neuroendocrine Tumor
Weight loss, Neuroendocrine neoplasm ORPHA:100083
Diastrophic Dysplasia
Ulnar deviation of finger, Joint dislocation, Elbow dislocation, Micromelia, Short finger, Campto... ORPHA:628
Tetrasomy 5P
Wide nasal bridge, Overlapping toe, Anteverted nares, Talipes equinovarus, Short hallux, Long fin... ORPHA:3309
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Genu valgum, Short nose ORPHA:2983
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Epistaxis, Epiphyseal stippling, Joint hemorrhage, Short nose OMIM:277450
Holocarboxylase Synthetase Deficiency
Hypotonia, Lethargy, Weight loss, Thrombocytopenia, Ataxia ORPHA:79242
Peripheral Primitive Neuroectodermal Tumor
Somatic sensory dysfunction, Lower limb muscle weakness, Abnormal thoracic spine morphology, Back... ORPHA:370348
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Slender finger, Small hand, Broad thumb, Broad hallux, Abnormal hip bone morphology, Prominent na... ORPHA:251028
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Abnormality of peripheral nerve conduction, Steppage gait, Abnormal peri... ORPHA:168563
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormal form of the... ORPHA:93941
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumbar hyperlordosis, My... OMIM:615980
Glioblastoma
Paralysis, Glioblastoma multiforme, Muscle weakness ORPHA:360
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Fliedner-Zweier Syndrome
Kyphosis, Cerebellar atrophy, Obesity, Hypotonia, Hallux valgus, Hypertonia, Scoliosis, Tethered ... OMIM:620511
Rhabdoid Tumor
Cerebral palsy, Oculomotor nerve palsy, Hemiplegia, Weight loss, Thrombocytopenia, Anemia ORPHA:69077
O'Donnell-Luria-Rodan Syndrome
Generalized hypotonia, Kyphosis, Tapered finger OMIM:618512
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Limb muscle weakness, Tremor, Bulbar palsy, Calf muscle hypertrophy OMIM:313200
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Polymicrogyria, Hypotonia, Tremor, Aganglionic megacolon, Hand pol... ORPHA:220493
Joubert Syndrome With Renal Defect
Polymicrogyria, Hypotonia, Tremor, Aganglionic megacolon, Hand polydactyly, Gait disturbance, Ocu... ORPHA:220497
Wolfram Syndrome 1
Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atrophy, Sideroblasti... OMIM:222300
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Widening of cervical spinal canal, Paucit... OMIM:253310
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Paralysis, Thrombocytopenia, Muscl... ORPHA:449285
Classic Hodgkin Lymphoma
Weight loss, Splenomegaly, Ataxia ORPHA:391
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Radial head subluxation, ... OMIM:146510
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Spastic paraplegia, Broad-based gait, Abnormality of the spleen, Hepatosp... ORPHA:2072
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614744
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hypotonia, Myopathy, Scoliosis, Kyphosis OMIM:618234
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W... ORPHA:93958
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Delayed cranial suture closure, Narrow nose, H... OMIM:601812
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morphology, Foot oligodac... ORPHA:2879
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Short palm, Flat acetabular roof, Short foot, Cone-shaped epiphy... OMIM:300106
Dend Syndrome
Anteverted nares, Clinodactyly of the 4th finger, Short nose, Prominent metopic ridge ORPHA:79134
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Hypotonia, Congenital diaphragmatic hernia, Tremor,... ORPHA:370079
Cockayne Syndrome Type 2
Difficulty walking, Gait disturbance, Limb hypertonia, Lower limb spasticity, Ataxia, Flexion con... ORPHA:90322
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Short toe, Delayed ossificati... OMIM:239300
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis ORPHA:411593
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Undetectable visual evoked potentials, Skeletal muscle atrophy... OMIM:252010
Bainbridge-Ropers Syndrome
Wide nasal bridge, Hand clenching, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal ... OMIM:615485
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Talipes equinovarus, Broad columella, Short nose OMIM:617865
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Choanal atresia, Preaxial hand polydactyly, Anteverted nares, Proximal placement ... OMIM:610536
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Scoliosis, Kyphosis, A... OMIM:607326
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytopenia ORPHA:83601
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Brachyolmia Type 3
Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit... OMIM:113500
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Bowing of the long bones, Talipes equi... ORPHA:800
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Dermotrichic Syndrome
Depressed nasal bridge, Short nose ORPHA:99688
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Microlissencephaly-Micromelia Syndrome
Adducted thumb, Micromelia, Bilateral single transverse palmar creases, Short nose ORPHA:50810
Chronic Hiccup
Weight loss, Abnormality of the diaphragm ORPHA:396
Thyrotoxic Periodic Paralysis
Ophthalmoparesis, Periodic hypokalemic paresis, Lower limb muscle weakness, Obesity, Episodic fla... ORPHA:79102
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Failure to thrive, Difficulty walking, Hypotonia, Abnormal... ORPHA:90321
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Malan Syndrome
Coxa valga, Long fingers, Short nose OMIM:614753
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Broad nasal tip, Broad hallux, Left unicoronal synostosis, Shortening of all d... OMIM:614749
Richards-Rundle Syndrome
Distal amyotrophy, Gait disturbance, Hypertonia, Ataxia ORPHA:1399
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Inability to walk, Hypotonia, Rhabdomyolysis, Fatigable weakness of neck... ORPHA:26791
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Congenital hip dislocation, Flared metap... OMIM:616007
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Anteverted nares, Hand polydactyly, Br... ORPHA:819
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Anteverted nares, Short nose OMIM:618437
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Acetabular dysplasia, Short nose, Hip dysplasia, Hammertoe, Coxa valga OMIM:619833
Distal Duplication 5Q
Absent thumb, Prominent nasal bridge, Hypoplasia of the ulna, Hypoplasia of the radius, Brachydac... ORPHA:96097
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Rhabdomyolysis, Periodic paralysis, Muscle weakness OMIM:188580
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Baraitser-Winter Syndrome 1
Wide nasal bridge, Anteverted nares, Duplication of phalanx of hallux, Short nose OMIM:243310
Familial Colorectal Cancer Type X
Hypotonia, Paresthesia, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Weight... ORPHA:440437
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia, Optic disc pallor OMIM:618527
Arthrogryposis, Distal, Type 4
Kyphosis, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, ... OMIM:609128
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Joint contracture of the hand, Prominent nose, Talipes equinovarus, Narro... ORPHA:363528
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Depressed nasal ridge, Broad nasal tip, Nasal congestion, Epiphys... ORPHA:79345
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Tremor, Weight loss, Adrenal pheochromocytoma, Vocal cord paralysis, P... ORPHA:276621
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Generalized neonatal hypotonia, Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Hyp... OMIM:245400
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Brachydactyly, Metaphyseal dysplasia, Scoliosis, Kyphosis, Irre... OMIM:234250
3P25.3 Microdeletion Syndrome
Broad thumb, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Hypotonia, Knee flexion cont... ORPHA:435638
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Clinodactyly, Anteverted nares, Brachydactyly, Short nose, Proximal place... OMIM:217980
Toluene Embryopathy
Short nose, Tapered finger ORPHA:1920
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... ORPHA:171430
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Leukopenia, Thrombocytosis, Myoclonus, Spastic hemiparesis, Leukocytosis, Hypotonia, ... ORPHA:20
Trisomy 20P
Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger,... ORPHA:261318
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Underdeveloped nasal alae, Overlapping toe, Cutaneous finger syndactyly, Antev... OMIM:613026
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Metatropic Dysplasia
Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical vertebrae, Camp... ORPHA:2635
Dpagt1-Cdg
Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, Clinodactyly, Failure to thrive, ... ORPHA:86309
Angelman Syndrome
Optic atrophy, Broad-based gait, Cerebral cortical atrophy, Inability to walk, Obesity, Myoclonus... ORPHA:72
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormality of the epiphysis of the femoral head, Abnormal ossification invol... ORPHA:2114
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Cerebellar atrophy, Generalized hypotonia, Gait imbalance, Tremor, Prominent protrudi... OMIM:300966
Achondroplasia
Thoracolumbar kyphosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Cervical spinal canal sten... ORPHA:15
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Paresthesia, Myositis, Muscular edema, Eosinophilia, Weight loss,... ORPHA:3165
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Babinski sign, Atrophy of the spinal cord, Spinal cord compressi... ORPHA:35125
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
African Trypanosomiasis
Myelitis, Involuntary movements, Myelopathy, Somatic sensory dysfunction, Fasciculations, Difficu... ORPHA:3385
Cockayne Syndrome
Spasticity, Difficulty walking, Action tremor, Peripheral axonal neuropathy, Cachexia, Ataxia, Op... ORPHA:191
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Skeletal muscle atrophy, Wormian bones, Hyperlordo... ORPHA:970
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Delayed ossification of carpal bo... OMIM:620099
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
Typhoid
Splenomegaly, Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Polydactyly, Short nose, Prominent metopic ridge ORPHA:314655
Reticular Dysgenesis
Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils ORPHA:33355
Polymyositis
Chondrocalcinosis, Hypotonia, Proximal muscle weakness, Gait disturbance, Weight loss, Arthritis,... ORPHA:732
Heart Defects-Limb Shortening Syndrome
Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodies, Abnormal m... ORPHA:1354
Donnai-Barrow Syndrome
Depressed nasal bridge, Short nose, Umbilical hernia ORPHA:2143
Gitelman Syndrome
Chondrocalcinosis, Failure to thrive, Paresthesia, Rhabdomyolysis, Generalized muscle weakness, P... OMIM:263800
Oculodentodigital Dysplasia
Hip dislocation, Clinodactyly, Underdeveloped nasal alae, 3-4 toe syndactyly, Narrow nose, Narrow... OMIM:164200
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol... ORPHA:1106
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Joint dislocation, Chorea, Pallidal degeneration, Limb dystonia, Tremor,... ORPHA:25
Congenital Myopathy 22B, Severe Fetal
Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Ophthalmoplegia, Short neck... OMIM:620369
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Alpha-Mannosidosis
Synostosis of joints, Hypotonia, Splenomegaly, Bowing of the long bones, Short neck, Arthritis, M... ORPHA:61
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Aplastic clavicle,... ORPHA:50945
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Spinal cord compression, Kyphosis, F... ORPHA:2522
Carey-Fineman-Ziter Syndrome 1
Spinal rigidity, Hypoplasia of the musculature, Skeletal muscle atrophy, Failure to thrive, Oculo... OMIM:254940
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Cerebellar atrophy, Fasciculations, Dysgyria, Tremor, Limb hypertonia,... OMIM:620327
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Short toe, Obesity, Hyperlordosis, Brachydactyly, Kyphosis ORPHA:3085
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Weight loss, Thro... OMIM:209950
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Sandal gap, Bulbous nose, Prominent nose, Short columella, Short nose, Cli... OMIM:156200
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Prea... ORPHA:3098
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Short nose, Bulbous nose ORPHA:284169
Immunodeficiency 115 With Autoinflammation
Skeletal muscle atrophy, Lower limb muscle weakness, Splenomegaly, Decreased proportion of memory... OMIM:620632
Hajdu-Cheney Syndrome
Foot acroosteolysis, Umbilical hernia, Anteverted nares, Genu valgum, Fibular bowing, Crowded car... OMIM:102500
Distal Deletion 9P
Wide nasal bridge, Brachydactyly, Short nose ORPHA:1642
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Low hanging columella, Short nose, Ta... OMIM:615803
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Spasticity, Hemiplegia, Metaphyseal sclerosis, Genu valgum, Tremor, Abnormality of... OMIM:612199
15Q24 Microdeletion Syndrome
Small hand, Kyphosis, Clinodactyly, Failure to thrive, Obesity, Hypotonia, Abnormal thumb morphol... ORPHA:94065
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form of the verteb... ORPHA:3219
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, EEG abnormality, Brachydactyly, Scoliosis, Kyphosis ORPHA:1858
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Clinodactyly, Sandal ga... OMIM:608156
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... OMIM:276820
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Hypotonia, Scoliosis, Kyphosis ORPHA:1548
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplasia of the fe... OMIM:615349
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Kanzaki Disease
Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, D... OMIM:609242
Geleophysic Dysplasia 1
Wide nasal bridge, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with r... OMIM:231050
Intellectual Developmental Disorder, X-Linked 21
Short nose OMIM:300143
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Skeletal muscle atrophy, Wide distal femoral metaphysis, Generalized hypotonia, Hy... OMIM:614856
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Bowing of the long bo... ORPHA:536471
Giant Cell Arteritis
Ophthalmoparesis, Optic atrophy, Paresthesia, Weight loss, Arthritis, Ataxia, Muscle weakness ORPHA:397
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tremor, Bab... ORPHA:314404
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Generalized hypotonia, Pancytopenia, Hypotoni... OMIM:615846
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th toe, Clinodactyly of the 4th toe... OMIM:614225
Becker Muscular Dystrophy
Falls, Tip-toe gait, Skeletal muscle atrophy, Difficulty walking, Muscle weakness ORPHA:98895
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Hypotonia, Proximal muscle weakness, Spina bifida occulta, Muscle weakness ORPHA:230839
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micromelia, Ulnar deviation of the ... OMIM:600383
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Failure to thrive, Kyphosis, Partial absence of thumb, Gait ataxia, Tr... ORPHA:476126
Micro Syndrome
Lissencephaly, Optic atrophy, Spasticity, Cerebral cortical atrophy, Hypotonia, Pachygyria, Scoli... ORPHA:2510
Lathosterolosis
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Anteverte... OMIM:607330
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Talipes equinovarus, Narrow pelvis bone, Hammertoe... OMIM:608022
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Skeletal muscle atrophy, Hypotonia ORPHA:2013
Crisponi Syndrome
Camptodactyly of finger, Hypertonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:1545
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Short nose, Tapered finger OMIM:620250
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Abnormal autonomic nervous system phy... ORPHA:2828
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, Short clavicles, Acroosteolysis of distal phalanges (feet), Narro... OMIM:608612
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Anteverted nares, Talipes equinovarus, Brachydactyly, Short nose, Apla... ORPHA:1358
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... OMIM:271700
Erythrokeratodermia Variabilis
Weight loss, Brachydactyly, Tapered finger ORPHA:317
Insulinoma
Neuroendocrine neoplasm, Paresthesia, Tremor, Generalized muscle weakness, Increased body weight,... ORPHA:97279
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Spasticity, Clinodactyly, Overlapping toe, Talipes eq... OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph... OMIM:615761
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Neonatal hypotonia, Hyp... OMIM:615802
Nicolaides-Baraitser Syndrome
Wide nasal base, Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Umbilical hernia, Enl... OMIM:601358
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Broad thumb, Prominent nasal bridge, Broad hallux phalanx, Proximal placement ... ORPHA:251071
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Sing... OMIM:300912
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Abnormal hip bone morphology, Hand ... ORPHA:7
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Cereb... ORPHA:17
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Generalized hypotonia, Myopathy, Gait disturbance, EEG abnormality ORPHA:85329
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Chemodectoma, Vocal cord paralysis, Glomus jugular tumor, Glomus tympanicum ... OMIM:601650
Congenital Heart Defects And Skeletal Malformations Syndrome
Sandal gap, Narrow nose, Arachnodactyly, Camptodactyly, Clinodactyly of the 5th finger, Long nose... OMIM:617602
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Incoordination, Obesity, Hypotonia, Tremor, Abnormal pyramidal sign, A... OMIM:614947
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Ulnar deviation of the hand, Upper motor neuron dysfunct... OMIM:612079
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Clubbing of toes, Weight loss ORPHA:2198
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis, Tremor OMIM:613239
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Bulbous nose, Short colu... ORPHA:364577
Kennedy Disease
Hypotonia, Gait disturbance, Skeletal muscle atrophy ORPHA:481
Ring Chromosome 10 Syndrome
Sandal gap, Hypotonia, Aganglionic megacolon, Cachexia, Short neck, Tapered finger ORPHA:1438
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Anteverted nares, Craniosynostosis, Short nose OMIM:601853
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Preaxial hand polydactyly ORPHA:79113
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Long fingers, Short nose ORPHA:357001
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss, Fatigable weakness ORPHA:99868
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Vertebral fusion, Broad palm, M... OMIM:227330
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Bulbous nose, Overlapping toe, Short nose OMIM:618571
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Metatarsus valgus, Talipes equ... ORPHA:261236
Attrv30M Amyloidosis
Weight loss, Abnormal autonomic nervous system physiology ORPHA:85447
Farber Disease
Spasticity, Skeletal muscle atrophy, Short toe, Failure to thrive, Short finger, Abnormality of t... ORPHA:333
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Periodic paralysis OMIM:613345
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Hepatosplenomegaly, Cervical cord compression, Splenomegaly, Short neck, Papil... OMIM:309900
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Short nose, Prominent metopic ridge ORPHA:261144
Autosomal Recessive Robinow Syndrome
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Synost... ORPHA:1507
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Congenital diaphragmatic hernia, Ara... OMIM:265000
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Failure to thrive, EEG with spike-wave complexes, Dysmetri... ORPHA:2203
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Failure to thrive, Cerebellar atrophy, Hypotonia, Thrombocytosis, Tremor, Dysmetria, At... OMIM:212065
Luscan-Lumish Syndrome
Long nose, Advanced ossification of carpal bones OMIM:616831
Kleefstra Syndrome 2
Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia OMIM:617768
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Hemiplegia/hemiparesis, Myositis, Eosinophilia, Gait disturb... ORPHA:183
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Sandal gap, Underdeveloped nasal alae, Umbilical h... OMIM:616835
Congenital Disorder Of Glycosylation, Type Il
Hip dislocation, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, H... OMIM:608776
Whipple Disease
Myoclonus, Splenomegaly, Myositis, Cachexia, Abnormal pyramidal sign, Arthritis, Ataxia, Anemia, ... ORPHA:3452
Refsum Disease
Skeletal muscle atrophy, Hypotonia, Splenomegaly, Hemiplegia/hemiparesis, Short metacarpal, Abnor... ORPHA:773
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Depressed nasal bridge, Anteverted nares, Ankle clonus, Hypoplasia o... OMIM:615398
Poems Syndrome
Hyperesthesia, Polycythemia, Metaphyseal sclerosis, Paresthesia, Thrombocytosis, Splenomegaly, Sc... ORPHA:2905
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Inability to walk, Hypotonia, Hyperkinetic movements, Lower limb spasticity, ... OMIM:617799
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Hypoplastic ilia, Multiple joint dislocation, Dysplasia of the femoral he... ORPHA:536467
Joubert Syndrome With Hepatic Defect
Ataxia, Optic disc coloboma, Hypotonia, Splenomegaly, Tremor, Abnormality of neuronal migration, ... ORPHA:1454
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Short nose ORPHA:163961
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Tetraparesis, Generalized hypotonia, Lymphopenia, Hypotonia, Autoimmune hemoly... OMIM:613179
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly ORPHA:86893
Ruvalcaba Syndrome
Small hand, Kyphosis, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short ph... OMIM:180870
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Spina bifida, Meningocele, Short nose ORPHA:894
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Delayed cranial suture closure, Anteverted nares, Concave nasal ridge, Sh... OMIM:613038
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Splenomegaly ORPHA:100024
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Kyphosis, Failure to thrive, Cerebral atrophy... OMIM:216400
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Micromelia, Abnormal tibia morphology, Spina bifida occulta, Scol... ORPHA:64755
Lowry-Maclean Syndrome
Choanal atresia, Single transverse palmar crease, Convex nasal ridge, Widely patent coronal sutur... ORPHA:2409
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Bradyk... ORPHA:199351
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Short toe, Short thumb, Sandal gap, Cervical C5/C6 ver... OMIM:613458
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot... ORPHA:53271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Hypopla... OMIM:271640
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Somatic sensory dysfunction, Lower limb muscle weakness, Abnormal... ORPHA:449427
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Acroosteolysis of distal phalanges... ORPHA:90154
Hirschsprung Disease
Failure to thrive in infancy, Aganglionic megacolon, Weight loss, Adducted thumb ORPHA:388
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal bones, Sclero... ORPHA:371428
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Clinodactyly, Bulbous nose, Single transverse palmar crease, ... OMIM:614114
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture... OMIM:259450
Tetanus
Autonomic bladder dysfunction, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, ... ORPHA:3299
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Long nasal bridge, Carpal synostosis, Elbow flexion contracture, Cutaneous f... OMIM:178110
Walker-Warburg Syndrome
Lissencephaly, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Optic a... ORPHA:899
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypotonia, Metatarsus valgus, EEG abnormality, Ataxia, Scoliosis, Genu varum, Tapered f... ORPHA:2479
Postpoliomyelitis Syndrome
Fasciculations, Skeletal muscle atrophy, Muscle weakness, Abnormal joint morphology ORPHA:2942
Beta-Ketothiolase Deficiency
Ataxia, Spasticity, Hypotonia, Leukocytosis, Weight loss, Thrombocytosis, Extrapyramidal dyskinesia ORPHA:134
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Tremor, Weight loss, Adrenal pheochromocytoma, Vocal cord paralysis, P... ORPHA:29072
Zimmermann-Laband Syndrome 2
Generalized hypotonia, Hypotonia, Short neck, Macroglossia, Kyphosis OMIM:616455
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Broad thumb, Clinodactyly, Anteverted nares, Brachydac... OMIM:616894
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Short nose OMIM:617802
Mucopolysaccharidosis Type 4
Platyspondyly, Joint dislocation, Spinal canal stenosis, Genu valgum, Bowing of the long bones, S... ORPHA:582
Tetrasomy 12P
Anteverted nares, Short nose ORPHA:884
Emanuel Syndrome
Congenital hip dislocation, Failure to thrive, Cerebral atrophy, Hypotonia, Congenital diaphragma... OMIM:609029
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Joint contracture, Scoliosis, Skeletal muscle atrophy, Muscle weakness OMIM:615704
Ataxia-Telangiectasia
Failure to thrive, Inability to walk, Lymphopenia, Myoclonus, Intention tremor, Tremor, Decreased... OMIM:208900
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Spasticity, Finger syndactyly, Clinodactyly, Cerebral atrophy, Diffi... ORPHA:464738
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ... OMIM:143095
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Short neck, Abnormal metacarpal mor... ORPHA:251014
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Hypotonia, Multifocal epileptiform ... OMIM:614300
Focal Myositis
Myositis, Weight loss, Muscle weakness ORPHA:48918
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal cortical gyra... ORPHA:2671
Thanatophoric Dysplasia
Platyspondyly, Micromelia, Hypotonia, Abnormal sacroiliac joint morphology, Brachydactyly, Gray m... ORPHA:2655
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Anteverted nares, Single transverse palmar crea... OMIM:247200
Gm1-Gangliosidosis, Type I
Hypotonia, Splenomegaly, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, H... OMIM:230500
Alternating Hemiplegia Of Childhood
Failure to thrive, Episodic hemiplegia, Tetraparesis, Chorea, Hypotonia, Tremor, Rigidity, Abnorm... ORPHA:2131
Clark-Baraitser syndrome
Genu recurvatum, Obesity, Genu valgum, Scoliosis, Kyphosis, Short palm, Tapered finger OMIM:300602
Takayasu Arteritis
Anemia, Weight loss, Muscle weakness, Arthritis ORPHA:3287
Alg1-Cdg
Cerebellar atrophy, Cerebral atrophy, Hypotonia, Scoliosis, Kyphosis ORPHA:79327
Alveolar Echinococcosis
Abnormal vertebral morphology, Abnormality of the diaphragm, Cutaneous abscess, Abnormal skeletal... ORPHA:284
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal diaphysis morphology, Camptodactyly of finger, Obesity, Short neck, Brac... ORPHA:3409
Hypercalcemia, Infantile, 1
Hypotonia, Lethargy, Weight loss, Failure to thrive OMIM:143880
Paramyotonia Congenita Of Von Eulenburg
Neonatal hypotonia, Periodic hypokalemic paresis, Cold paresis, EMG: myopathic abnormalities, Fac... ORPHA:684
Andersen-Tawil Syndrome
Small hand, Scoliosis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Episodic fl... ORPHA:37553
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Prominent nose, Brachydactyly, Cl... ORPHA:1005
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Scoliosis, Kyphosis, Anterior tibial b... OMIM:112350
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Genu valgum, Osteoarthritis, Short nose ORPHA:560
Cardiospondylocarpofacial Syndrome
Synostosis of carpal bones, Brachydactyly, Short palm ORPHA:3238
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Small for gestational age, Failure to thrive,... OMIM:133540
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Abnormal spinal cord morphology ORPHA:494
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Skeletal muscle atrophy, Finger syndactyly, Failure to t... ORPHA:2990
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Decreased body weight, Bullet-shape... OMIM:602535
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia, Skeletal muscle atrophy OMIM:105300
Central Diabetes Insipidus
Lethargy, Weight loss, Failure to thrive ORPHA:178029
Niemann-Pick Disease Type C
Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abno... ORPHA:646
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Depressed nasal bridge, Increased density of long bones, Short 1s... OMIM:269150
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ophthalmoparesis, Distal amyotrophy, Slender build, Ragged-red muscle fibers, Distal sensory impa... OMIM:603041
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Polymicrogyria, Knee flexion contracture, Thoracic scoliosis, Postaxial ... OMIM:603387
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Finger clinodactyly, Brachydactyly, Camptodactyly, Rocker bottom foot, Sh... OMIM:601353
Trisomy 8P
Short fifth metatarsal, Depressed nasal bridge, Recurrent upper respiratory tract infections, Sho... ORPHA:264450
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Wild Type Attr Amyloidosis
Impaired vibratory sensation, Autonomic bladder dysfunction, Orthostatic hypotension due to auton... ORPHA:330001
Orofaciodigital Syndrome Type 6
Failure to thrive, Finger clinodactyly, Preaxial polydactyly, Generalized hypotonia, Hypotonia, T... ORPHA:2754
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Short columella, Talipes equinovarus, Short nose, Tapered finger OMIM:613603
Developmental Malformations-Deafness-Dystonia Syndrome
Micromelia, Generalized dystonia, Femoral retroversion, Macroglossia, Scoliosis, Kyphosis ORPHA:79107
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Bulbous nose, Anteverted nares, Postaxial hand polyda... ORPHA:46059
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight loss, Thrombocytop... ORPHA:507
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Neurodegeneration, Peripheral demyelination, Genu valgum, Decreased... OMIM:619475
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Beaking of vertebral bo... ORPHA:137834
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Optic atrophy, Kyphosis, Short thumb, Failure to thrive, Preaxial ... ORPHA:280
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of the spinocerebellar tracts, Incoordination, Abnormal... OMIM:601992
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Depressed nasal bridge, Short femoral neck, Flared metaphysis, Irregular epiphyses, Bulbous nose,... OMIM:610442
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Cachexia ORPHA:1144
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Absent epiphyses, Anteverted nares, Genu valg... OMIM:600373
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Failure to thrive, Frog-leg posture, Generalized hypotonia OMIM:618603
Au-Kline Syndrome
Bifid nasal tip, Underdeveloped nasal alae, Overlapping toe, Prominent nasal bridge, Wide nasal r... OMIM:616580
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Fucosidosis
Spasticity, Kyphosis, Failure to thrive, Decreased muscle mass, Hypotonia, Abnormal pyramidal sig... ORPHA:349
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Prader-Willi Syndrome Due To Translocation
Small hand, Broad nasal tip, Clinodactyly, Overlapping toe, Clinodactyly of the 4th finger, Promi... ORPHA:177907
Renpenning Syndrome
Clinodactyly of the 5th finger, Cachexia, Skeletal muscle atrophy, Abnormal thumb morphology ORPHA:3242
Autosomal Dominant Optic Atrophy And Cataract
Deviation of the 2nd finger, Optic atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Rest... ORPHA:67036
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Limb undergrowth, Hip dislocation, Short nose OMIM:618005
Pseudohypoaldosteronism Type 2
Periodic paralysis, Muscle weakness ORPHA:757
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Radial deviation of finger, Clinodactyly, HbH hemoglobin, Cerebral atrophy, Hypotonia... OMIM:301040
Pontocerebellar Hypoplasia, Type 17
Spastic tetraplegia, Paroxysmal dystonia, Limb hypertonia, Kyphosis, Axial hypotonia OMIM:619909
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Short nose, Ankle clonus OMIM:614222
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip, Short nose OMIM:614207
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Hepatosplenomegaly, Hypotonia, Talipes equinovarus, F... OMIM:232500
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Brachydactyl... ORPHA:1974
Desmosterolosis
Joint contracture of the hand, Rhizomelia, Hypoplastic nasal bridge, Anteverted nares, Bilateral ... OMIM:602398
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Ophthalmoparesis, Skeletal muscle atrophy, Hyperlordosis, Abnormal muscle fiber morphology, Clino... ORPHA:3068
Porphyria, Acute Intermittent
Paresthesia, Respiratory paralysis, Paralysis, Reduced erythrocyte porphobilinogen deaminase acti... OMIM:176000
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Sandal gap, Abnormal fibula morphology, Short nose ORPHA:1812
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Degeneration of the striat... ORPHA:51
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Failure to thrive, Hypotonia, Tremor, 2-3 toe syndactyly, Babinski sign, Hypertonia, ... OMIM:616539
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Weight loss, Vocal cord paralysis ORPHA:142
Trisomy 10P
Depressed nasal bridge, Short toe, Abnormality of the nose, Thumb contracture, Anteverted nares, ... ORPHA:171929
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Hypotonia, Scoliosis, Kyphosis OMIM:300676
Peho Syndrome
Anteverted nares, Short nose, Tapered finger ORPHA:2836
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Joint swelling, Splenomegaly, Arthropathy, Abnormal metacarpophalangeal jo... ORPHA:465508
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Bulbou... OMIM:618454
Prolidase Deficiency
Concave nasal ridge, Depressed nasal bridge, Short nose OMIM:170100
Trisomy 17P
Macroglossia, Skeletal muscle atrophy, Hypotonia, Prominent metopic ridge, Short neck, Hypertonia... ORPHA:261290
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Neonatal hypotonia, Generalized hypotonia, Hypotonia, Tremor, Rhabdomyolysis, Atax... OMIM:610505
Pycnodysostosis
Coronal craniosynostosis, Small hand, Rhizomelia, Spondylolysis, Persistent open anterior fontane... ORPHA:763
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Short nose, Metopic synostosis OMIM:613735
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Short nose OMIM:242860
Thanatophoric Dysplasia Type 2
Platyspondyly, Micromelia, Hypotonia, Abnormality of neuronal migration, Brachydactyly, Abnormal ... ORPHA:93274
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Scoliosis, Periodic hypokalemic paresis, Clinodactyly of the 5th toe,... OMIM:170390
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Encephalocraniocutaneous Lipomatosis
Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Rigidity, Hemiparesis, Paral... ORPHA:2396
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Synovitis, Cachexia, Weight loss, Hypochromic micr... ORPHA:77297
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Generalized hypotonia, Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than... OMIM:619424
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Depressed nasal bridge, Hypoplastic scapulae, Myelopathy, Va... OMIM:252500
Lateral Meningocele Syndrome
Dural ectasia, Abnormal form of the vertebral bodies, Hypotonia, Syringomyelia, Wormian bones, Sh... ORPHA:2789
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Failure to thrive, Generalized hypotonia, Hepatosplenomegaly, Myopathy, ... ORPHA:367
Cohen Syndrome
Optic atrophy, Finger syndactyly, Sandal gap, Failure to thrive in infancy, Obesity, Genu valgum,... ORPHA:193
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hypertonia, Ataxia ORPHA:31
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Small hand, Failure to thrive, Neonatal hypotonia, Hypotonia, Gait disturbance, Flexion contractu... ORPHA:500055
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Hypotonia, Peripheral axonal neuropathy, Apraxia, Weight loss, Ataxia, Lower-l... ORPHA:99885
Pfapa Syndrome
Weight loss, Splenomegaly, Arthritis ORPHA:42642
Native American Myopathy
Progressive congenital scoliosis, Skeletal muscle atrophy, Congenital contracture, Inability to w... ORPHA:168572
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lateral Meningocele Syndrome
Dural ectasia, Kyphosis, Decreased muscle mass, Hypotonia, Biconcave vertebral bodies, Syringomye... OMIM:130720
Cono-Spondylar Dysplasia
Kyphosis, Short 4th toe, Failure to thrive, Hypotonia, Short humerus, Short neck, Brachydactyly, ... ORPHA:420794
Thanatophoric Dysplasia Type 1
Platyspondyly, Micromelia, Hypotonia, Femoral bowing, Bowing of the long bones, Abnormal sacroili... ORPHA:1860
Robinow Syndrome, Autosomal Dominant 1
Wide nasal bridge, Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly... OMIM:180700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Abnormal hip joint morphology, Abnormality of the wrist, Abno... ORPHA:85408
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Arthritis, Recurrent cutan... ORPHA:47
Autosomal Dominant Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Elbow dislocation, Camptodactyly of... ORPHA:3107
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Mucolipidosis Type Ii
Kyphosis, Limited wrist movement, Inability to walk, Hepatosplenomegaly, Diastasis recti, Splenom... ORPHA:576
Distal 16P11.2 Microdeletion Syndrome
Neonatal hypotonia, Obesity, Arachnodactyly, Aganglionic megacolon, Kyphosis ORPHA:261222
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Abnormal sacroiliac joint morphology, Weight loss, Arthritis, Anem... ORPHA:324964
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Arachnodactyly, Short nose ORPHA:2719
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Skeletal muscle atrophy, Muscle weakness, Increased muscle glycogen content ORPHA:371
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Prominent nasal bridge, Short nose, Tapered finger ORPHA:65286
Bartsocas-Papas Syndrome 1
Axillary pterygium, Hypoplastic scapulae, Popliteal pterygium, Absent thumb, Short thumb, Underde... OMIM:263650
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital dia... ORPHA:2311
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Underdeveloped nasal alae, Preaxi... OMIM:134780
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Arthrogryposis multiplex congenita, Sandal gap, Finger syndactyly, Obesity, Hyp... ORPHA:254346
Mulibrey Nanism
Cachexia ORPHA:2576
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Hypotonia, Oculomotor apraxia, Skeletal muscle atrophy OMIM:619759
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Congenital hip dislocation, Anteverted nares, Single transverse palmar cr... OMIM:244450
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Short sternum, Short nose OMIM:222448
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Cerebral cortical atrophy, Kyphosis, Short toe, Failure to thrive, Abn... ORPHA:464311
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Hyp... ORPHA:35858
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Low insertion of columella, ... OMIM:619005
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Cerebrooculonasal Syndrome
Proboscis, Anteverted nares, Prominent nasal bridge, Encephalocele, Postaxial polydactyly, Postax... OMIM:605627
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Hypotonia, Kyphoscoliosis, Arachnodactyly, Long toe, Flexion contracture ORPHA:75496
Arterial Tortuosity Syndrome
Short nose, Avascular necrosis of the capital femoral epiphysis, Long palm, Arachnodactyly, Hip d... ORPHA:3342
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Anteverted nares, Choanal stenosis, Short nose ORPHA:1790
Poikiloderma With Neutropenia
Depressed nasal bridge, Palmoplantar keratoderma, Underdeveloped nasal alae, Recurrent sinusitis,... OMIM:604173
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Spasticity, Cachexia, Ataxia ORPHA:220295
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Micromelia, Long hallux, Bowing of the long bones, Choan... OMIM:259775
Wiedemann-Steiner Syndrome
Wide nasal bridge, Rhizomelia, Clinodactyly, Abnormality of the hand, Clinodactyly of the 5th fin... ORPHA:319182
Steinert Myotonic Dystrophy
Neonatal hypotonia, Neck muscle weakness, Proximal muscle weakness, Talipes equinovarus, Ophthalm... ORPHA:273
Trisomy 18
Choanal atresia, Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Bila... ORPHA:3380
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Hypotonia, Myopathy, Rhabdomyolysis, Muscle weakness OMIM:615511
Spondyloenchondrodysplasia
Platyspondyly, Short distal phalanx of finger, Spasticity, Granuloma, Chorea, Pancytopenia, Autoi... ORPHA:1855
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebral cortical atrophy, Cerebellar atrophy, Large for gestational age, Hypotonia, Gait ataxia,... OMIM:617011
Sézary Syndrome
Abnormal lymphocyte morphology, Skeletal muscle atrophy, Splenomegaly, Tremor ORPHA:3162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized hyp... OMIM:614080
Felty Syndrome
Abnormal joint morphology, Abnormal lymphocyte morphology, Splenomegaly, Synovitis, Weight loss, ... ORPHA:47612
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con... OMIM:620278
Moynahan Syndrome
Cachexia ORPHA:2574
Distal Triplication 15Q
Large for gestational age, Hypotonia, Arachnodactyly, Syringomyelia, Camptodactyly, Craniosynosto... ORPHA:314588
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Overlapping toe, Anteverted nares, Wide nose, Recurrent sinusitis, Talipes equ... OMIM:213980
Chromosome 3Q13.31 Deletion Syndrome
Hypotonia, Proximal placement of thumb, Kyphosis OMIM:615433
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent nasal bridge, Short nose OMIM:619179
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Splenomegaly, Tremor, Lethargy, Ataxia OMIM:201100
Acrocallosal Syndrome
Wide nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand p... OMIM:200990
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Wormian bones, Short lower limbs, Scoliosis, Kyphosis OMIM:259440
Trisomy 13
Optic atrophy, Ectrodactyly, Hypotonia, Postaxial hand polydactyly, Scoliosis, Kyphosis ORPHA:3378
Koolen-De Vries Syndrome Due To A Point Mutation
Neonatal hypotonia, Speech apraxia, Slender build, Hand muscle atrophy, Arachnodactyly, Joint dis... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Neonatal hypotonia, Speech apraxia, Slender build, Hand muscle atrophy, Arachnodactyly, Joint dis... ORPHA:363958
Follicular Lymphoma
Weight loss, Splenomegaly ORPHA:545
Osteosarcoma
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Joint swelling, We... ORPHA:668
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Short nose OMIM:219200
Osteogenesis Imperfecta
Tetraparesis, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the ... ORPHA:666
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Thrombocytopenia, Anemia, Decerebrate rigidity, Back pain, M... ORPHA:319251
Celiac Disease, Susceptibility To, 1
Ataxia, Failure to thrive, Macrocytic anemia, Iron deficiency anemia, Weight loss, Thrombocytosis OMIM:212750
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, H... ORPHA:2215
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille... OMIM:615418
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures, Abnormal diaphysis morphology ORPHA:2028
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Short nose ORPHA:280200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Shor... ORPHA:3082
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypopl... ORPHA:2916
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Prominen... ORPHA:2953
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Progressive spasticity, Skeletal muscle atrophy, Small for gestati... ORPHA:85323
Alg9-Cdg
Depressed nasal bridge, Rhizomelia, Flared metaphysis, Underdeveloped nasal alae, Delayed cranial... ORPHA:79328
Coffin-Lowry Syndrome
Bifid sternum, Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Wide nose... OMIM:303600
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Failure to thrive, Cerebral palsy, Generalized hypotonia, Hypotonia, Opi... OMIM:210210
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... ORPHA:206569
Rheumatoid Arthritis
Digital flexor tenosynovitis, Rheumatoid arthritis, Polyarticular arthritis, Interphalangeal join... OMIM:180300
Bruck Syndrome
Platyspondyly, Pterygium, Bowing of the long bones, Talipes equinovarus, Wormian bones, Scoliosis... ORPHA:2771
Desmosterolosis
Depressed nasal bridge, Abnormality of the nose, Micromelia, Metatarsus adductus, Short nose ORPHA:35107
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Skeletal muscle atrophy, Splenomegaly, Generalized hypotonia OMIM:616828
3M Syndrome
Congenital hip dislocation, Scoliosis, Micromelia, Increased vertebral height, Short neck, Hypopl... ORPHA:2616
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Platyspondyly, Irregular femoral epiphysis, Spondylolisthe... OMIM:108300
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Distal amyotrophy, Basal lamina onion bulb formation, Progressive spastic paraplegia ORPHA:2821
Geleophysic Dysplasia 2
Short foot, Cone-shaped epiphysis, Short palm, Short nose OMIM:614185
Carnitine Palmitoyl Transferase 1A Deficiency
Hypotonia, Lethargy, Skeletal muscle atrophy, Hemiplegia/hemiparesis ORPHA:156
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Brachydactyly, Short palm, Short nose ORPHA:3339
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Weakness of mus... ORPHA:79276
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalan... OMIM:218600
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Generalized hypoton... OMIM:248700
Graves Disease
Weight loss, Muscle weakness OMIM:275000
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Long nose, Slender long bone, Short nose OMIM:618590
Aymé-Gripp Syndrome
Depressed nasal bridge, Reduced arm span, Delayed cranial suture closure, Prominent metopic ridge... ORPHA:1272
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Sandal gap, Camptodactyly of finger, Hypotonia, Bicoronal synostosis, 2-3 toe syndactyl... OMIM:619951
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed cranial suture closure, Radioulnar synostosis,... OMIM:601088
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Small hand, Clinodactyly, Broad hallux, Narrow nose, Anteverted nares, Contractu... OMIM:301044
Multiple Myeloma
Paresthesia, Splenomegaly, Generalized muscle weakness, Weight loss, Spinal cord compression, Ane... ORPHA:29073
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy, EEG abnormality ORPHA:3239
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Short nose, Hip subluxation, Mesomelia, Prominent meto... OMIM:613457
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Bulbous nose, Anteverted nares, Cubitus valgus, Deep palmar crease, Clino... OMIM:115150
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Myocardial necrosis, Granuloma, Oculomotor nerve palsy, Hemipares... ORPHA:68
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Obesity, Short neck, Scoliosis, Kyphosis ORPHA:3191
Prader-Willi Syndrome
Small hand, Poor fine motor coordination, Scoliosis, Radial deviation of finger, Impaired pain se... OMIM:176270
Silver-Russell Syndrome
Generalized neonatal hypotonia, Sandal gap, Abnormality of the calcaneus, Decreased muscle mass, ... ORPHA:813
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebral cortical atrophy, Difficulty walking, Slender build, Large for gestational age, Lumbar h... ORPHA:457359
Robinow Syndrome
Flared nostrils, Short distal phalanx of finger, Radioulnar dislocation, Broad nasal tip, Depress... ORPHA:97360
Inhalational Botulism
Paralysis, Muscle weakness ORPHA:254504
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Failure to thrive, Macrocytic anemia, Eosinophilia, Lethargy, Weight loss, Ort... ORPHA:199299
Leprosy
Enlarged peripheral nerve, Skeletal muscle atrophy, Dissociated sensory loss, Autoamputation of d... ORPHA:548
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Adducted thumb, Short nose, Wide nose OMIM:608779
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Episodic flaccid weakness OMIM:170500
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Choanal atresia, Depressed nasal ridge, Joint dislocation, Finge... ORPHA:2753
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Gait disturbance, Kyphosis ORPHA:85193
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia, Muscl... ORPHA:520
Pontocerebellar Hypoplasia, Type 2E
Short nose, Wide nose OMIM:615851
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Broad nasal tip, Anteverted nares, Delayed closure of the anterior fo... ORPHA:357074
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, Broad-based gait, Kyphosis, Short 5th toe, 2-4 toe cutaneous syndactyl... ORPHA:268261
Jacobsen Syndrome
Toe clinodactyly, Wide nasal bridge, Toe syndactyly, Finger syndactyly, Short toe, Broad columell... ORPHA:2308
Dyrk1A-Related Intellectual Disability Syndrome
Cerebral cortical atrophy, Toe syndactyly, Small for gestational age, Failure to thrive, Kyphosis... ORPHA:464306
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Palmoplantar keratoderma, Anteverted nares, Genu valgum, Abnormal morphol... ORPHA:1340
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight... ORPHA:514
Shashi-Pena Syndrome
Kyphosis, Hypotonia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Short metacarpal OMIM:617190
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Small hand, Congenital hip dislocation, Short thumb, Talipes equinovarus,... OMIM:268400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Neonatal hypot... OMIM:300967
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Micromelia, Short nose, Postaxial hand polydactyly OMIM:200995
Pleural Mesothelioma
Weight loss ORPHA:50251
Melorheostosis
Skeletal muscle atrophy, Failure to thrive, Arthritis ORPHA:2485
Hurler Syndrome
Hypoplasia of the odontoid process, Neurodegeneration, Hepatosplenomegaly, Splenomegaly, Biconcav... OMIM:607014
Chops Syndrome
Cervical C2/C3 vertebral fusion, Anteverted nares, Brachydactyly, Short nose OMIM:616368
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Decreased muscle mass, Inability to walk, Myoclonus, Kyphoscoliosis, Arach... ORPHA:3063
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, Wide nasal bridge, Narrow naris, 3-4 toe syndactyly... ORPHA:1449
Cornelia De Lange Syndrome 6
Short 1st metacarpal, Anteverted nares, Down-sloping shoulders, Arachnodactyly, Short nose, Clino... OMIM:620568
Multiple Endocrine Neoplasia, Type Iib
Proximal femoral epiphysiolysis, Generalized hypotonia, Failure to thrive in infancy, Pheochromoc... OMIM:162300
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
X-Linked Intellectual Disability, Miles-Carpenter Type
Rocker bottom foot, Skeletal muscle atrophy ORPHA:85283
Acro-Renal-Mandibular Syndrome
Kyphosis, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Butterfly vertebra... ORPHA:958
Polyarteritis Nodosa
Weight loss, Polyneuritis, Sensory axonal neuropathy ORPHA:767
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Weight loss, Le... ORPHA:99867
Fetal Alcohol Syndrome
Anteverted nares, Short nose ORPHA:1915
Intellectual Developmental Disorder, Autosomal Dominant 73
Axillary pterygium, Toe clinodactyly, Spasticity, Tip-toe gait, Cerebellar vermis atrophy, Lumbar... OMIM:620450
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Cerebral atrophy, Hypotonia, 2-3 toe syndactyly, Scoliosis, Kyphosis OMIM:616449
Koolen-De Vries Syndrome
Slender finger, Small for gestational age, Kyphosis, Prominent fingertip pads, Failure to thrive,... OMIM:610443
Brucellosis
Hip osteoarthritis, Granuloma, Failure to thrive, Sacroiliac arthritis, Chorea, Hypersplenism, Le... ORPHA:1304
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Clinodactyly of the 2nd finger, Prominent fingertip pads, Speech apraxia... ORPHA:251061
Lynch Syndrome
Hypotonia, Paresthesia, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Weight... ORPHA:144
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Coffin-Siris Syndrome
Short 5th finger, Wide nasal base, Recurrent upper respiratory tract infections, Broad nasal tip,... ORPHA:1465
Simpson-Golabi-Behmel Syndrome
Wide nasal bridge, Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Sh... ORPHA:373
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Short nose, Contracture of the proximal interphalangeal joint of the ... ORPHA:457279
Lethal Congenital Contracture Syndrome Type 1
Short neck, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Abnormality of the elbow ORPHA:1486
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Failure to thrive, Generalized hypotonia, Brachydactyly, Absent fourth finger dista... OMIM:618050
Mucopolysaccharidosis Type 6
Failure to thrive, Genu valgum, Splenomegaly, Short neck, Macroglossia, Abnormal metaphysis morph... ORPHA:583
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Short nose OMIM:605309
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy, Finger syndactyly, Absent hand, Aplasi... ORPHA:570
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Elbow dislocation, Sandal gap, Knee dislocation, Sacral dimple, Kyphosis, Impa... ORPHA:536532
Dysostosis, Stanescu Type
Micromelia, Persistent open anterior fontanelle, Bowing of the long bones, Wormian bones, Short n... ORPHA:1798
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Radioulnar synost... ORPHA:392
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Atlantoaxial instability, Skeletal muscle atrophy, Congenital kyphosc... ORPHA:536545
Down Syndrome
Depressed nasal ridge, Depressed nasal bridge, Sandal gap, Umbilical hernia, Bilateral single tra... ORPHA:870
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Skeletal muscle atrophy, Neonatal hypotonia, Hypotonia, Type 1 muscle f... OMIM:614557
Fryns-Smeets-Thiry Syndrome
Hypotonia, Patellar aplasia, Arachnodactyly, Cachexia, Scoliosis, Hip dislocation ORPHA:2058
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia, Anemia, Clubbing, Muscle weakness, Clubbing of fingers OMIM:175500
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Joint subluxation, Kyphosis, Generalized hypotonia, Talipes equinovarus, Wormian bones, Hallux va... OMIM:617821
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Mucolipidosis Iii Gamma
Genu valgum, Claw hand deformity, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Fing... OMIM:252605
Mgat2-Cdg
Failure to thrive, Generalized hypotonia, Hypotonia, Brain atrophy, Hypsarrhythmia, Impaired lymp... ORPHA:79329
Menke-Hennekam Syndrome 1
Depressed nasal ridge, Recurrent upper respiratory tract infections, Cutaneous syndactyly of toes... OMIM:618332
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal pheochromocytoma, Vocal cord pa... OMIM:168000
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss ORPHA:2221
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
Mend Syndrome
Abnormal auditory evoked potentials, Broad hallux, Failure to thrive, Generalized hypotonia, Over... ORPHA:401973
Parkinson Disease 21
Bradykinesia, Parkinsonism, Tremor, Rigidity OMIM:616361
Congenital Tufting Enteropathy
Weight loss, Optic disc coloboma, Failure to thrive, Arthritis ORPHA:92050
Harrod Syndrome
Cerebral cortical atrophy, Failure to thrive, Arachnodactyly, Scoliosis, Kyphosis ORPHA:2115
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Short toe, Short finger OMIM:242100
Congenital Myopathy 13
Skeletal muscle atrophy, Hypotonia, Proximal muscle weakness, Weakness of facial musculature, Kyp... OMIM:255995
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Kyphosis, Sacral dimple OMIM:618272
Kleefstra Syndrome
Talipes equinovarus, Anteverted nares, Short nose ORPHA:261494
Duane Retraction Syndrome
Blepharospasm, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Preaxial hand poly... ORPHA:233
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Broad nasal tip, Narro... OMIM:617157
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, 2-3 toe syndactyly, Prominent nasal tip, Bilateral talipes equinovarus, Short ... ORPHA:522077
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypotonia, Myopathy, Proximal muscle w... OMIM:619743
Aredyld Syndrome
Splenomegaly, Cachexia, Scoliosis, Brachydactyly ORPHA:1133
Xfe Progeroid Syndrome
Optic atrophy, Failure to thrive, Cachexia, Poor coordination, Scoliosis OMIM:610965
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Underdeveloped nasal alae, Short nose ORPHA:2315
Schinzel-Giedion Syndrome
Spasticity, Overlapping toe, Overlapping fingers, Radioulnar synostosis, Short neck, Hypsarrhythm... ORPHA:798
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Kyphosis ORPHA:1883
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Small hand, Broad nasal tip, Clinodactyly, Bulbous nose, Overlapping toe,... OMIM:309590
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Cachexia, Weight loss ORPHA:1979
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Short nose, Prominent nasal bridge OMIM:300749
Riddle Syndrome
Poor hand-eye coordination, Clumsiness, Gait disturbance, Weight loss, Arthritis, Ataxia ORPHA:420741
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Limb muscle weakness, Myopathy, Proximal ... OMIM:112250
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Short nose OMIM:234050
Cadds
Short nose ORPHA:369942
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Arachnodactyly, Short... OMIM:613406
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Short toe, Finger syndactyly, Umbilical hernia, Prominent nasal bridge, Brachy... ORPHA:1519
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Short toe, Hypotonia, Camptodactyly of toe, Truncal obesity, Tapered finger ORPHA:127
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, Hypotonia, 2-3 toe syndactyly, Postax... ORPHA:404440
Mosaic Trisomy 20
Clinodactyly, Spinal canal stenosis, Hypotonia, Vertebral segmentation defect, Limited pronation/... ORPHA:1724
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose ORPHA:329178
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Small hand, Broad nasal tip, Sandal gap, Prominent fingertip pads, Short 4th t... OMIM:615873
Primary Sjögren Syndrome
Normocytic anemia, Somatic sensory dysfunction, Lymphopenia, Chorea, Polyarticular arthropathy, D... ORPHA:289390
Marfanoid-Progeroid-Lipodystrophy Syndrome
Dural ectasia, Hypotonia, Arachnodactyly, Long fingers, Scapular winging, Craniosynostosis, Kypho... OMIM:616914
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Cronkhite-Canada Syndrome
Anemia, Cachexia, Splenomegaly, Tapered finger ORPHA:2930
1P36 Deletion Syndrome
Optic atrophy, Cerebral cortical atrophy, Scoliosis, Failure to thrive, Camptodactyly of finger, ... ORPHA:1606
Bannayan-Riley-Ruvalcaba Syndrome
Broad thumb, Skeletal muscle atrophy, Abdominal wall muscle weakness, Hypotonia, Myopathy, Cachex... ORPHA:109
Monosomy 9P
Choanal atresia, Depressed nasal bridge, Abnormality of the tarsal bones, Anteverted nares, Bilat... ORPHA:261112
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Failure to thrive, Neonatal hypotonia, Impaired temperature sensation, Increased body... ORPHA:398069
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Increased mean corpuscular volume, Periventricular heterotopia, Thrombocy... ORPHA:261250
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Polydactyly, Metopic synostosis, Short nose ORPHA:77301
Erdheim-Chester Disease
Joint swelling, Weight loss, Ataxia, Anemia, Abnormal metaphysis morphology ORPHA:35687
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Left ventricular noncompaction, Hemiplegia, Flexion ... ORPHA:1344
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly... ORPHA:84
Microphthalmia, Lenz Type
Finger syndactyly, Optic disc coloboma, Camptodactyly of finger, Hyperlordosis, Clinodactyly of t... ORPHA:568
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Cryptogenic Organizing Pneumonia
Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Al Amyloidosis
Howell-Jolly bodies, Postural hypotension with compensatory tachycardia, Weight loss, Abnormal au... ORPHA:85443
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Anteverted nares, Short sternum, Short nose, Wide nose OMIM:257300
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Brachydactyly, Clinodactyly of the 5th finger, Short nose OMIM:147791
Ctcf-Related Neurodevelopmental Disorder
Broad nasal tip, Prominent fingertip pads, Sandal gap, Anteverted nares, Short columella, Joint c... ORPHA:363611
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Hypotonia, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern OMIM:619244
Ogden Syndrome
Wide nasal bridge, Flared nostrils, Bifid nasal tip, Depressed nasal bridge, Congenital hip dislo... OMIM:300855
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Clinodactyly, Elbow flexion contracture, Decreased body weight, Thoracic... OMIM:616200
Idiopathic Bronchiectasis
Cachexia, Clubbing ORPHA:60033
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Hypotonia, Short humerus, Lateral femoral bowing, Bowing of the long bones, Ky... OMIM:239000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Failure to thrive, Leukocytosis, Splenomegaly, Proximal muscle weakness,... OMIM:615895
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the vertebral column, Splenic cyst, Abscess, Eosinophilia, Wei... ORPHA:400
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Refractory Celiac Disease
Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr... ORPHA:398063
Adult-Onset Still Disease
Leukocytosis, Joint swelling, Splenomegaly, Weight loss, Arthritis, Neutrophilia, Anemia, Arthral... ORPHA:829
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Leukocytosis, Thrombocytopenia ORPHA:90060
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia, Skeletal muscle atrophy OMIM:607598
Gabriele-De Vries Syndrome
Sandal gap, Hypotonia, Distal lower limb amyotrophy, Tremor, Distal arthrogryposis, Hallux valgus... ORPHA:506358
Osteogenesis Imperfecta, Type Iii
Tibial bowing, Biconcave vertebral bodies, Wormian bones, Scoliosis, Kyphosis, Protrusio acetabuli OMIM:259420
Igg4-Related Aortitis
Low back pain, Hypereosinophilia, Weight loss ORPHA:449400
Secondary Short Bowel Syndrome
Aganglionic megacolon, Weight loss, Failure to thrive ORPHA:95427
C Syndrome
Depressed nasal bridge, Toe syndactyly, Joint dislocation, Micromelia, Anteverted nares, Bilatera... ORPHA:1308
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis, Glomus jugular tumor... OMIM:605373
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Muscle weakness, Skeletal muscle hypertrophy OMIM:608390
Wilson Disease
Poor motor coordination, Chondrocalcinosis, Hand tremor, Decreased nerve conduction velocity, Lim... OMIM:277900
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Hypotonia, Wide cranial sut... OMIM:616294
Gapo Syndrome
Depressed nasal bridge, Delayed cranial suture closure, Umbilical hernia, Anteverted nares, Delay... OMIM:230740
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Weight loss, Leukocytosis ORPHA:2070
Lambert-Eaton Myasthenic Syndrome
Orthostatic hypotension due to autonomic dysfunction, Progressive proximal muscle weakness, Abnor... ORPHA:43393
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Enlargement of the ankles, Metaphyseal cupping, Irregular iliac crest, Abnormal joint morphology,... ORPHA:99646
Stickler Syndrome
Platyspondyly, Joint dislocation, Proximal femoral epiphysiolysis, Abnormal diaphysis morphology,... ORPHA:828
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss ORPHA:83469
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Short nose ORPHA:96147
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Delayed closure of the anterior fontanelle, Clinodactyly, Short nose OMIM:618460
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Failure to thriv... ORPHA:217346
Noonan Syndrome 14
Clinodactyly, Lymphopenia, Hypotonia, Limited elbow extension, Cubitus valgus, Short neck, Scapul... OMIM:619745
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Abnormality of neur... ORPHA:647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Anteverted nares,... ORPHA:280633
Wolman Disease
Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Spina bifida occulta, Clinodactyly of the 5th finger, Short middle phalan... OMIM:301030
Trisomy 9P
Short neck, Brachydactyly, Clinodactyly of the 5th finger, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Wide nasal bridge, Broad nasal tip, Short thumb, Short finger, Bulbous nose, An... OMIM:619522
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compr... OMIM:259730
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Behçet Disease
Paresthesia, Splenomegaly, Hemiparesis, Myositis, Gait disturbance, Abnormal pyramidal sign, Weig... ORPHA:117
Hurler-Scheie Syndrome
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Splenome... OMIM:607015
Marfanoid Habitus With Situs Inversus
Genu recurvatum, Arachnodactyly, Scoliosis, Kyphosis, Hyperextensibility of the finger joints OMIM:609008
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Short nose OMIM:608013
Peroxisome Biogenesis Disorder 4B
Single transverse palmar crease, Short nose OMIM:614863
Loeffler Endocarditis
Eosinophilia, Weight loss, Left ventricular hypertrophy ORPHA:75566
Atelis Syndrome 2
Clinodactyly, Dysmetria, Thrombocytopenia, Anemia, Kyphosis, Sacral dimple OMIM:620185
Poland Syndrome
Small hand, Acute leukemia, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... ORPHA:2911
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss, Clubbing ORPHA:79127
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Depressed nasal tip, Midline defect of the nose, Fla... OMIM:610828
Cornelia De Lange Syndrome
Choanal atresia, Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation,... ORPHA:199
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Macroglossia, Broad distal phalanx of finger, Hypoplasia of the capital femoral epiphysis, Elbow ... OMIM:619194
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Gout, Convex nasal ridge, Short nose OMIM:300661
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Hypotonia, Bowing of the long bones, Wormian bones, Scolio... ORPHA:2050
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Kyphosis, Cachexia, Scoliosis, Genu varum ORPHA:1969
Cerebrofaciothoracic Dysplasia
Short nose, Wide nose ORPHA:1394
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Abnor... ORPHA:818
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Rhizomelia, Brain abscess, Lumbar hyperlordosis, Femoral bowing, Tibial bowing, Ky... OMIM:616482
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age, Hand tremor ORPHA:424
Immunodeficiency 31C
Skeletal muscle atrophy, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Weight loss, Imp... OMIM:614162
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Failure to thriv... ORPHA:955
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Failure to thrive, Lymphopenia, Leukopenia, Myositis, Thrombocytosis, An... OMIM:615934
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Skeletal muscle atrophy, Somatic sensory dysfunction, Failure to thrive, Swelling... ORPHA:3260
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Talipes equinovarus, Radioulnar synostosis, Short hallux, Hip dislocation,... OMIM:194190
Graft Versus Host Disease
Skeletal muscle atrophy, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Dupuytren contr... ORPHA:39812
Gitelman Syndrome
Chondrocalcinosis, Failure to thrive, Paresthesia, Gout, Rhabdomyolysis, Paralysis, Iron deficien... ORPHA:358
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Weight loss, Carcinoid tumor, Neuroendocrine neoplasm ORPHA:97289
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Mend Syndrome
Broad hallux, Failure to thrive, Overlapping toe, Overlapping fingers, Hypotonia, Axial hypotonia... OMIM:300960
Distal Renal Tubular Acidosis
Failure to thrive, Paralysis, Respiratory insufficiency due to muscle weakness, Hemolytic anemia,... ORPHA:18
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Neutrophilia, Anemia, Liver abscess ORPHA:54251
White-Kernohan Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Metopic synostosis, Hip dysp... OMIM:619426
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Obesity, Biconcave vertebral bodies, Abdominal obesity, Vertebral compre... OMIM:219090
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, Short greater sciatic notch, ... OMIM:312870
Koolen-De Vries Syndrome
Kyphosis, Hypotonia, Vertebral segmentation defect, Arachnodactyly, Vertebral fusion, Scoliosis, ... ORPHA:96169
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Myoclonus, Kyphosis, Postaxial hand polydactyly OMIM:258850
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Cerebral atrophy, Generalized hypotonia, Hypotonia, Tremor, Clonus, Neutropeni... OMIM:617248
Cowden Syndrome 1
Kyphosis, Lymphopenia, Scoliosis, Intention tremor OMIM:158350
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Kyphosis, Pheochromocytoma, Genu valgum, Paresthesia, Spinal neurof... ORPHA:636
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Hypotonia, Weight loss, Orthostatic hypotension, Muscle wea... ORPHA:95409
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Primary Intestinal Lymphangiectasia
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Anemia, Decreased p... ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Failure to thrive, Peripheral demyelination, Hypotonia, Dysmetria, Tremor, Left ventr... OMIM:220111
Campomelic Dysplasia
Kyphosis, Femoral bowing, Tibial bowing, Fibular hypoplasia, Bowing of the long bones, Talipes eq... ORPHA:140
Yao Syndrome
Weight loss, Arthritis OMIM:617321
Toriello-Carey Syndrome
Brachydactyly, Clinodactyly, Short nose ORPHA:3338
Deeah Syndrome
Overlapping fingers, Prominent nasal tip, C1-C2 subluxation, Short nose OMIM:619004
Frontofacionasal Dysplasia
Cranium bifidum occultum, Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Shor... OMIM:229400
Short Syndrome
Weight loss, Brachydactyly, Short palm ORPHA:3163
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Pineoblastoma
Paralysis, Lethargy, Papilledema ORPHA:251909
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Umbilical hernia, Delayed cranial suture closure, Short columella, Arachnodact... OMIM:601776
Cleidocranial Dysplasia 1
Spondylolysis, Scoliosis, Kyphosis, Persistent open anterior fontanelle, Cone-shaped epiphyses of... OMIM:119600
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Left unilambdoid synostosi... OMIM:609942
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis, Truncal obesity OMIM:219080
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Hypoplasia of proximal radius, Anteverted nares, Fibular hypoplasia, Cervical C2/C3 v... ORPHA:444077
Zttk Syndrome
Optic atrophy, Small hand, Spasticity, Failure to thrive, Neonatal hypotonia, Hypotonia, Hemivert... OMIM:617140
Marfan Syndrome
Dural ectasia, Skeletal muscle atrophy, Slender build, Hypotonia, Spondylolisthesis, Limited elbo... ORPHA:558
Williams Syndrome
Synostosis of joints, Spasticity, Genu valgum, Myopathy, Radioulnar synostosis, Ataxia, Patellar ... ORPHA:904
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Joint contracture OMIM:615381
Juvenile Dermatomyositis
Hypotonia, Myositis, Weight loss, Calcinosis, Arthritis, Muscle weakness ORPHA:93672
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Prominent fingertip pads, Overlapping toe, Hypotonia, Bilateral camptodactyly, Short fourth metat... OMIM:619557
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Prominent nose, Genu valgum, Anteverted n... OMIM:619488
Aspartylglucosaminuria
Platyspondyly, Macroglossia, Spasticity, Spondylolysis, Cerebral atrophy, Generalized hypotonia, ... OMIM:208400
Familial Glucocorticoid Deficiency
Weight loss, Tetraplegia, Failure to thrive ORPHA:361
Trichothiodystrophy 1, Photosensitive
Short nose OMIM:601675
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Large hands, Leukemia, Cerebellar glioma, Plexiform neurofibroma, Glomu... ORPHA:97685
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thr... ORPHA:90045
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor ORPHA:99819
Simple Cryoglobulinemia
Spontaneous pain sensation, Paresthesia, Chronic lymphatic leukemia, Weight loss, Arthritis ORPHA:91139
Progressive Non-Infectious Anterior Vertebral Fusion
Kyphosis, Abnormality of the vertebral column, Large hands, Hemivertebrae, Abnormal intervertebra... ORPHA:2062
Pneumocystosis
Abnormal neutrophil count, Weight loss ORPHA:723
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hemophagocytosis, Failure to thrive, Leukopenia, Hypotonia, Splenomegaly... OMIM:222700
Cardiospondylocarpofacial Syndrome
Wide nasal bridge, Cone-shaped epiphysis, Carpal synostosis, Fusion of middle ear ossicles, Bulbo... OMIM:157800
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Finger syndactyly, Delayed cranial suture closure, Hypotonia, Abnormal metacarpal morp... ORPHA:2658
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Genu valgum, Hemiplegia/hemiparesis, Arachnodactyly, Scoliosis, Kyphosis ORPHA:394
Polycythemia Vera
Acute leukemia, Polycythemia, Paresthesia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis ORPHA:729
Cap Polyposis
Weight loss ORPHA:160148
Frank-Ter Haar Syndrome
Flared metaphysis, Delayed cranial suture closure, Hypotonia, Anterior concavity of thoracic vert... OMIM:249420
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Polydacty... ORPHA:2729
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Wide nasal bridge, Broad nasal tip, Sandal gap, Umbilical hernia, Prominent nas... OMIM:620330
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Brachydactyly, Postaxial hand polydactyly, Scoliosis, Kyphosis ORPHA:2075
Donohue Syndrome
Severe failure to thrive, Skeletal muscle atrophy, Large hands OMIM:246200
Systemic Capillary Leak Syndrome
Weight loss, Leukocytosis ORPHA:188
Norrie Disease
Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Hypotonia, Cachexia, Clonus, EEG abn... ORPHA:649
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Involuntary movements, Spasticity, Skeletal muscle atrophy, Fasciculations, Fatiga... ORPHA:284339
Werner Syndrome
Small hand, Chondrocalcinosis, Skeletal muscle atrophy, Slender build, Rocker bottom foot ORPHA:902
Ménétrier Disease
Weight loss, Hypochromic microcytic anemia ORPHA:2494
Limb Body Wall Complex
Progressive congenital scoliosis, Broad hallux, Abnormality of the vertebral column, Aplasia of t... ORPHA:2369
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr... ORPHA:3042
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Hepatosplenomegaly, Weight loss, Myopathy ORPHA:85450
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Short nose ORPHA:2282
Bullous Pemphigoid
Weight loss ORPHA:703
Neuroendocrine Tumor Of The Colon
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100080
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia, Brachydactyly, Short palm ORPHA:3217
Adrenocortical Carcinoma
Increased body weight, Weight loss, Muscle weakness ORPHA:1501
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Rat-Bite Fever
Anemia, Oligoarthritis, Weight loss, Arthritis, Septic arthritis, Back pain, Tendonitis ORPHA:31205
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Weight loss, Clubbing, Failure to thrive ORPHA:79128
Acrodermatitis Enteropathica
Cerebral cortical atrophy, Weight loss, Failure to thrive ORPHA:37
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Failure to thrive in infancy, Oral ... OMIM:219800
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Weight loss, Neutropenia, Ataxia, Anemia, Thrombocytopenia ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia, Muscle weakness ORPHA:781
Recon Progeroid Syndrome
Skeletal muscle atrophy, Long thumb, Arachnodactyly, Thrombocytopenia, Anemia, Proximal placement... OMIM:620370
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss, Muscle flaccidity ORPHA:679
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss ORPHA:1332
Osteootohepatoenteric Syndrome
Anemia, Avascular necrosis of the capital femoral epiphysis, Weight loss, Failure to thrive OMIM:619377
Peters Plus Syndrome
Depressed nasal bridge, Rhizomelia, Toe syndactyly, Short toe, Micromelia, Umbilical hernia, Ante... ORPHA:709
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Kyphosis, Radial bowing, Femoral bowing, Tibial bowing, Wormian bones, Femoral ret... OMIM:610915
Holoprosencephaly 9
Choanal atresia, Depressed nasal bridge, Broad nasal tip, Short nose, Postaxial hand polydactyly,... OMIM:610829
Cowden Syndrome
Failure to thrive, Brachydactyly, Ataxia, Macroglossia, Scoliosis, Kyphosis ORPHA:201
Familial Thrombocytosis
Chronic myelogenous leukemia, Paresthesia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thr... ORPHA:71493
Neuroendocrine Tumor Of The Rectum
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100082
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Carcinoid tumor, Neuroendocrine neoplasm ORPHA:100085
Multiple Endocrine Neoplasia Type 1
Pulmonary carcinoid tumor, Cranial nerve compression, Insulinoma, Pheochromocytoma, Ependymoma, G... ORPHA:652
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Deep palmar crease, Short nose ORPHA:505248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Splenomegaly, Myositis, Cachexia, Iron... ORPHA:37042
Renal Nutcracker Syndrome
Anemia, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Acrofacial Dysostosis, Cincinnati Type
Failure to thrive, Laryngeal dystonia, Pterygium, Abnormality of coordination, Femoral bowing, My... OMIM:616462
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Depressed nasal bridge, Coronal craniosynostosis, Umbilical herni... OMIM:612289
Neuroendocrine Tumor Of Stomach
Atypical pulmonary carcinoid tumor, Iron deficiency anemia, Weight loss, Carcinoid tumor, Paragan... ORPHA:100075
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Short nose, Syndactyly OMIM:618820
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess ORPHA:67
Molybdenum Cofactor Deficiency, Type B
Short nose OMIM:252160
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Oculomotor nerve palsy, Tremor, Weight loss, Internal ophthalmoplegia ORPHA:91347
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Lymphopenia, Pheochromocytoma, Leukocytosis, ... ORPHA:99889
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Rhinitis, Underdeveloped nasal alae, Short nose OMIM:305100
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Leukopenia, Decreased body weight, Increased body weight, Weight loss... ORPHA:2298
Bronchial Neuroendocrine Tumor
Weight loss, Pulmonary carcinoid tumor ORPHA:97287
Primrose Syndrome
Short distal phalanx of finger, Distal amyotrophy, Skeletal muscle atrophy, Neurodegeneration, Hy... OMIM:259050
Occipital Horn Syndrome
Synostosis of joints, Platyspondyly, Kyphosis, Delayed cranial suture closure, Humerus varus, Gen... ORPHA:198
Molybdenum Cofactor Deficiency, Type A
Short nose OMIM:252150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Convex nasal ridge, Short nose OMIM:619321
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hepatosplenomegaly, Hypersplenism, Cachexia, Weight loss, Anemia, Vacuolated l... ORPHA:275761
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Joint swelling, Splenom... OMIM:619381
Coffin-Siris Syndrome 1
Sandal gap, Prominent fingertip pads, Sacral dimple, Hypotonia, Gait ataxia, Short distal phalanx... OMIM:135900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Contracture of the proximal interphalangeal joint of the 3rd finger, ... OMIM:618223
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Kyphosis, Failure to thrive, Neonatal hypotonia, Genu valgum, Joint swelling, Anem... ORPHA:534
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Spasticity, Skeletal muscle atrophy, Finger syndactyly,... ORPHA:110
1P21.3 Microdeletion Syndrome
Broad nasal tip, Short nose ORPHA:293948
Dermatomyositis
Abnormal eosinophil morphology, Chondrocalcinosis, Hypotonia, Inflammatory myopathy, Proximal mus... ORPHA:221
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Slender finger, Depressed nasal bridge, Multiple joint dislocation, Elbow flexion contracture, In... OMIM:619503
Addison Disease
Normocytic anemia, Failure to thrive, Thiamine-responsive megaloblastic anemia, Weight loss, Orth... ORPHA:85138
Nephroblastoma
Weight loss ORPHA:654
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Rheumatoid arthritis, Weight loss ORPHA:49041
Alkaptonuria
Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, Low back pain, Arthriti... OMIM:203500
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Seckel Syndrome
Sandal gap, Cachexia, Craniosynostosis, Clinodactyly of the 5th finger, Scoliosis ORPHA:808
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Failure to thrive, Decreased body weight, Mitten deformity, Anemia, Flex... ORPHA:89842
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Small for ge... OMIM:618252
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Pemphigus Vulgaris
Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Systemic Lupus Erythematosus
Chorea, Leukopenia, Weight loss, Thrombocytopenia, Arthritis, Hemolytic anemia ORPHA:536
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Abnormality of the extraocular muscles, Myositis, Generalized muscle wea... ORPHA:79078
Tetrasomy 9P
Lissencephaly, Small hand, Joint dislocation, Generalized hypotonia, Polymicrogyria, Myositis, Ta... ORPHA:3310
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae, Wormian ... OMIM:166220
Hermansky-Pudlak Syndrome
Weight loss, Abnormality of visual evoked potentials, Neutropenia ORPHA:79430
Budd-Chiari Syndrome
Weight loss, Splenomegaly ORPHA:131
Nodular Non-Suppurative Panniculitis
Weight loss, Splenomegaly ORPHA:33577
Cardiofacioneurodevelopmental Syndrome
Brachydactyly, Camptodactyly, Clinodactyly of the 5th finger, Asplenia, Kyphosis OMIM:619123
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Acromegaly
Macrodactyly, Cerebral palsy, Paresthesia, Joint swelling, Cortical diaphyseal thickening of the ... ORPHA:963
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryp... OMIM:601701
Somatomammotropinoma
Macrodactyly, Cerebral palsy, Paresthesia, Joint swelling, Cortical diaphyseal thickening of the ... ORPHA:314769
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Hypotonia, Biconcave vertebral bodies, Tibial bowing, Kyphoscoliosis, Severe platy... OMIM:259770
Localized Scleroderma
Skeletal muscle atrophy, Sclerosis of finger phalanx, Myopathy, Arthritis, Flexion contracture ORPHA:90289
Vipoma
Ganglioneuroma, Generalized muscle weakness, Weight loss, Respiratory insufficiency due to muscle... ORPHA:97282
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Cerebral cortical atrophy, Failure to thrive, Ectro... ORPHA:2273
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Choanal atresia, Joint contracture of the hand, Depressed nasal bridge, Carpal synostosis, Femora... OMIM:201750
Caroli Disease
Weight loss, Leukocytosis, Splenomegaly, Liver abscess ORPHA:53035
Proteasome-Associated Autoinflammatory Syndrome 1
Finger swelling, Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Elbow flexi... OMIM:256040
Granulomatosis With Polyangiitis
Weight loss, Granulomatosis OMIM:608710
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Flexion contracture OMIM:619183
Ramon Syndrome
Decreased body weight, Juvenile rheumatoid arthritis, Optic disc pallor, Scoliosis, Kyphosis OMIM:266270
Stevens-Johnson Syndrome
Anemia, Abnormality of neutrophils, Weight loss, Thrombocytopenia ORPHA:36426
Occipital Horn Syndrome
Platyspondyly, Persistent open anterior fontanelle, Genu valgum, Limited elbow extension, Short h... OMIM:304150
Aspartylglucosaminuria
Wide nasal bridge, Umbilical hernia, Abnormal morphology of ulna, Arthritis, Short nose ORPHA:93
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss, Clubbing ORPHA:747
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Weight loss, Neutropenia ORPHA:537
Penile Agenesis
Bilateral talipes equinovarus, Depressed nasal bridge, Short nose ORPHA:49
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Absent thumb, Slender long bone, Arachnodactyly, Sagit... ORPHA:500150
Tyrosinemia, Type I
Anemia, Periodic paralysis, Splenomegaly, Failure to thrive OMIM:276700
Sotos Syndrome
Abnormal vertebral morphology, Ankle flexion contracture, Scoliosis, Cerebral atrophy, Hypotonia,... ORPHA:821
Familial Osteodysplasia, Anderson Type
Bifid femur, Abnormal form of the vertebral bodies, Elbow dislocation, Aplasia/hypoplasia of the ... ORPHA:2769
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss, Granulomatosis ORPHA:900
Familial Pancreatic Carcinoma
Peritoneal abscess, Hepatosplenomegaly, Weight loss, Back pain ORPHA:1333
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Sagittal c... OMIM:603116
Castleman Disease
Anemia, Decreased mean corpuscular volume, Weight loss, Thrombocytopenia ORPHA:160
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Splenomegaly, Weight loss, Arthritis, Optic neuropathy, Clubbing OMIM:181000
Proteus Syndrome
Macrodactyly, Thymus hyperplasia, Finger syndactyly, Decreased muscle mass, Kyphosis, Myofibrilla... ORPHA:744
Sarcoidosis
Leukopenia, Joint swelling, Proximal muscle weakness, Increased T cell count, Eosinophilia, Weigh... ORPHA:797
Juvenile Polyposis Of Infancy
Broad thumb, Generalized hypotonia, Broad phalanx of the toes, Cachexia, Anemia, Refractory anemi... ORPHA:79076
Microsporidiosis
Brain abscess, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, My... ORPHA:2552
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive ORPHA:1018
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Short foot, Hip dislocati... OMIM:601803
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Triphalangeal thumb, Contracture of the proximal... ORPHA:2232
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Pyomyositis
Myositis, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Joint contracture of the hand, Finger swelling, Kyphosis, Wrist swelling, Failure ... OMIM:309000
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Weight loss, Splenomegaly, Generalized amyotrophy ORPHA:171
Hutchinson-Gilford Progeria Syndrome
Shuffling gait, Limited wrist movement, Limitation of movement at ankles, Severe failure to thriv... ORPHA:740
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Alstrom Syndrome
Obesity, Polydactyly, Truncal obesity, Elevated hemoglobin A1c, Scoliosis, Kyphosis OMIM:203800
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Hypotonia, Scoliosis, Kyphosis OMIM:619482
Postinfectious Vasculitis
Weight loss, Arthritis, Abnormality of the peripheral nervous system ORPHA:48435
Parathyroid Carcinoma
Chondrocalcinosis, Weight loss, Muscle weakness ORPHA:143
Wrinkly Skin Syndrome
Congenital hip dislocation, Hypoplasia of the musculature, Failure to thrive, Delayed cranial sut... OMIM:278250
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis, Madelung deformity OMIM:301111
Shprintzen Omphalocele Syndrome
Generalized hypotonia, Hypotonia, Lumbar hyperlordosis, Decreased body weight, Scoliosis, Kyphosis OMIM:182210
Pulmonary Alveolar Microlithiasis
Stippled calcification in carpal bones, Weight loss, Fatigable weakness, Clubbing of fingers ORPHA:60025
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Radial deviation of finger, Kyphosis, Clinodactyly OMIM:609944
Gallbladder Neuroendocrine Tumor
Weight loss, Neuroendocrine neoplasm ORPHA:100086
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Kyphosis OMIM:106300
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Kyphosis, Spina bifida ORPHA:1393
Williams-Beuren Syndrome
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Anteverted nares, Down-sloping shoulde... OMIM:194050
Turner Syndrome Due To Structural X Chromosome Anomalies
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Neck pterygia, Failure to thriv... ORPHA:99413
Mosaic Monosomy X
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Neck pterygia, Failure to thriv... ORPHA:99228
Monosomy X
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Neck pterygia, Failure to thriv... ORPHA:99226
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Turner Syndrome
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Neck pterygia, Failure to thriv... ORPHA:881
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Iron deficiency anemia, Weight loss ORPHA:100078
Yunis-Varon Syndrome
Toe syndactyly, Clinodactyly, Anterior concavity of thoracic vertebrae, Severe failure to thrive,... OMIM:216340
Reactive Arthritis
Weight loss, Joint swelling, Arthritis ORPHA:29207
Atypical Werner Syndrome
Chondrocalcinosis, Skeletal muscle atrophy, Failure to thrive, Finger clinodactyly, Intervertebra... ORPHA:79474
Klatskin Tumor
Weight loss ORPHA:99978
Chronic Graft Versus Host Disease
Pancytopenia, Weight loss, Arthritis, Flexion contracture, Muscle weakness ORPHA:99921
Zollinger-Ellison Syndrome
Glucagonoma, Weight loss, Neuroendocrine neoplasm ORPHA:913
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss ORPHA:309031
Grfoma
Intestinal carcinoid, Pheochromocytoma, Weight loss ORPHA:97261
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Tarsal synostosis, Kyphosis, Delayed cranial suture closure ORPHA:85199
Ppoma
Intestinal carcinoid, Weight loss ORPHA:97278
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Short nose OMIM:606721
Glucagonoma
Weight loss, Acanthocytosis, Normochromic anemia ORPHA:97280
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Weight loss, Papilledema, Normochromic anemia ORPHA:91500
Viss Syndrome
Kyphosis, Failure to thrive, Recurrent joint dislocation, Hypotonia, Genu valgum, Hypereosinophil... OMIM:619472
Somatostatinoma
Weight loss, Hypochromic microcytic anemia ORPHA:97283
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Bicoronal synostosis, Scoliosis, Kyphosis OMIM:619718
Nocardiosis
Weight loss, Brain abscess, Cutaneous abscess, Liver abscess ORPHA:31204
Igg4-Related Kidney Disease
Eosinophilia, Weight loss ORPHA:449395
Malt Lymphoma
Anemia, Weight loss ORPHA:52417
Primary Fanconi Renotubular Syndrome
Weight loss, Muscle weakness ORPHA:3337
Leprechaunism
Skeletal muscle atrophy, Failure to thrive, Decreased body weight, Large hands, Axial hypotonia ORPHA:508
Branchiooculofacial Syndrome
Short thumb, Fusion of middle ear ossicles, Preaxial hand polydactyly, Elbow flexion contracture,... OMIM:113620
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Premature fusion of the radial epiphyseal plates, Failure to thrive ORPHA:90794
Pancreatoblastoma
Weight loss ORPHA:677
Tropical Pancreatitis
Weight loss ORPHA:103918
Generalized Arterial Calcification Of Infancy
Abnormal hip joint morphology, Abnormal calcification of the carpal bones, Stippled calcification... ORPHA:51608
Alström Syndrome
Short toe, Somatic sensory dysfunction, Short finger, Incoordination, Hepatosplenomegaly, Obesity... ORPHA:64
Pierson Syndrome
Hypotonia, Skeletal muscle atrophy OMIM:609049
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Myocardial calcification, Splenomegaly 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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