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Gene: Reep1 MGI:1098827

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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:
receptor accessory protein 1
Synonyms:
D6Ertd253e

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 Reep1 mutations

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

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

The table below shows human diseases associated to Reep1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Spastic Paraplegia Type 31
Distal sensory impairment, Gait disturbance, Difficulty walking, Impaired proprioception, Spastic... ORPHA:101011
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Peripheral axonal neuropathy OMIM:620011
Spastic Paraplegia 31, Autosomal Dominant
Distal sensory impairment, Ankle clonus, Spastic paraplegia, Spastic gait, Babinski sign, Lower l... OMIM:610250
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Impaired vibratory sensation, Unsteady gait ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751

The table below shows human diseases predicted to be associated to Reep1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Diffuse axonal swelling, Atrophy of the spinal cord, Abnormal lower motor neu... OMIM:602433
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, Inability to walk by childhood/adolescence, Hypertrophic nerve... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Scoliosis, Gait disturbance, Axonal degeneration OMIM:616155
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Frequent falls, Impaired pain sensation, Distal sensory impairment, Unsteady gait, Impaired tande... ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Distal sensory impairment, Difficulty walking, Broad-based gai... OMIM:614895
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Difficulty walking, Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis OMIM:611067
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Steppage gait, Tip-toe gait, Peripheral axonal degeneration, Axonal degeneration, Axonal degenera... OMIM:614436
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Steppage gait, Abnormality of somatosensory evoked potentials, Gait distu... ORPHA:206594
Chronic Inflammatory Demyelinating Polyneuropathy
Paresthesia, Somatic sensory dysfunction, Unsteady gait, Falls, Difficulty walking, Motor conduct... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased sensory nerve conduction velocity, Distal sensory impairment, Steppage gait... OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal sensory impairment, Paresthesia, Hypoesthesia, Ataxia, Hypertrophic nerve changes, Decreas... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Impaired pain sensation, Distal sensory impairment, Hand tremor, Difficulty walki... OMIM:618279
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... OMIM:608600
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia,... ORPHA:95434
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired pain sensation, Hypertrophic nerve changes, Impaired proprioception, Decreased motor ner... DECIPHER:29
Peroxisome Biogenesis Disorder 8B
Loss of ambulation, Rigidity, Leukodystrophy, Dysmetria, Spasticity, Elevated circulating phytani... OMIM:614877
Charcot-Marie-Tooth Disease, Type 4J
Frequent falls, Distal sensory impairment, Gait disturbance, Distal arthrogryposis, Decreased ner... OMIM:611228
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Null Syndrome
CNS hypomyelination, Inability to walk, Ataxia, Difficulty walking, Progressive spastic paraplegi... ORPHA:280234
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Perip... OMIM:606482
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Hypertriglyceridemia, Reduced subcut... OMIM:612526
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tetraparesis, Limb dystonia, Abnormal pyramidal sign, Ataxia, Generalized lipodystrop... ORPHA:363400
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Distal sensory impairment, Impaired distal vibration... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired pain sensation, Impaired distal tactile sensation, Impaired distal vibration sensation, ... OMIM:607706
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of p... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Frequent falls, Impaired pain sensation, Distal sensory impairment, Gait disturbance, Impaired di... OMIM:607684
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Scoliosis, Abnormal cranial nerve morphology, Difficulty walki... OMIM:601596
Plin1-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia,... ORPHA:280356
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Kyphosis OMIM:618138
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Optic disc pallor, Kyphosis, Peripheral axonal neuropathy, Decreas... OMIM:617087
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hyp... OMIM:604367
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Charcot-Marie-Tooth Disease Type 2B1
Motor axonal neuropathy, Inability to walk, Sensory axonal neuropathy, Clusters of axonal regener... ORPHA:98856
Juvenile Primary Lateral Sclerosis
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology ORPHA:247604
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Hypertrophic nerve changes, Upper limb postural tremor, Decreased moto... OMIM:180800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Gait disturbance, Ataxia, Truncal titubation, Kyphosis, Abnormal peripheral nerve morp... ORPHA:88628
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Scoliosis, Inability to walk, Cerebral atrophy, Facial di... OMIM:611890
Charcot-Marie-Tooth Disease Type 4G
Impaired pain sensation, Distal sensory impairment, Difficulty walking, Motor conduction block, L... ORPHA:99953
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Gait disturbance, EEG abnormality, Apraxia, Abnormal upper motor neuron morphology, L... OMIM:221770
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Limb ataxia, Ataxia, Loss of ambulation, Decreased number of large peripheral myelinat... OMIM:208920
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Clusters of axonal regeneration, Decreased motor nerve conduction velo... OMIM:607734
Obsolete: Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Progressive gait ataxia, Symmetrical progressive peripheral dem... ORPHA:208981
Mitochondrial Dna Depletion Syndrome 18
Scoliosis, Axonal degeneration, Falls OMIM:618811
Primary Lateral Sclerosis, Juvenile
Spastic gait, Spastic dysarthria, Pseudobulbar paralysis, Spasticity of pharyngeal muscles, Abnor... OMIM:606353
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Unsteady gait, Clumsiness, Tip-toe gait, Decreased number of peripheral myelinated ... ORPHA:2386
Spastic Paraplegia 55, Autosomal Recessive
Distal sensory impairment, Difficulty walking, Impaired distal vibration sensation, Steppage gait... OMIM:615035
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Upper limb spasti... OMIM:205100
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Scoliosis, Inability to walk, Kyphosis OMIM:611225
Neuropathy, Hereditary Motor And Sensory, Russe Type
Claw hand deformity, Distal sensory impairment, Difficulty walking, Axonal regeneration, Decrease... OMIM:605285
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Gait disturbance, Difficulty walking, Tip-toe gait, Decreased number of peripheral myelinated ner... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal sensory impairment, Difficulty walking, Steppage gait, Segmental peripheral demyelination,... OMIM:606483
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Hypotonia, Loss of ambulation, Decreased nerve conduction velocity, CNS demyelination, Gait ataxi... OMIM:249900
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired pain sensation, Distal sensory impairment, Steppage gait, Axonal regeneration, Periphera... OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal sensory impairment, Steppage gait, Peripheral axonal atrophy, Decreased motor nerve conduc... OMIM:118210
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal sensory impairment, Hypertrophic nerve changes, Steppage gait, Decreased motor nerve condu... OMIM:118200
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Elevated circulating creatine kinase ... ORPHA:435660
Spinocerebellar Ataxia Type 43
Distal sensory impairment, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Cogwheel ri... ORPHA:497764
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Abnormal pyramidal sign, Parkinsonism, Inability to walk, Ataxia, Abnormality of extr... OMIM:617672
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Camptodactyly, Hyperintensity of MRI T2 signal of th... OMIM:609033
Charcot-Marie-Tooth Disease, Type 4H
Distal sensory impairment, Hypoesthesia, Unsteady gait, Decreased motor nerve conduction velocity... OMIM:609311
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Unsteady gait, Dysesthesia, Generalized hypotonia, Gait ataxi... ORPHA:98916
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... OMIM:613913
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Insulin resistance, ... ORPHA:79085
Adult Krabbe Disease
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Somatic sensory dysfunc... ORPHA:206448
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating ... OMIM:615980
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal sensory impairment, Ataxia, Steppage gait, Decreased motor nerve conduction velocity, Peri... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve ... OMIM:615490
Charcot-Marie-Tooth Disease, Type 4D
Frequent falls, Claw hand deformity, Distal sensory impairment, Gait disturbance, Unsteady gait, ... OMIM:601455
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hypertriglyceridemia, Hyperlipidemia,... ORPHA:435651
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal sensory impairment, Hypertrophic nerve changes, Steppage gait, Decreased motor nerve condu... OMIM:118220
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Enlarged periph... OMIM:151660
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Increased C-peptide level, Hypertriglyceridemia, Decreased serum leptin, Diabetic ... OMIM:615238
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Ataxia, Peripheral demyelination, Peripheral axonal degeneration, Peripheral hy... OMIM:604168
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Hypotonia, Decreased motor nerve conduction velocity, Decreas... OMIM:618184
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Impaired pain sensation, Distal sensory impairment, Inability to walk, Unsteady g... ORPHA:99948
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Steppage gait, Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers,... OMIM:605588
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Steppage gait, Peripheral axonal neuropathy, Decreased motor... OMIM:610100
Ddost-Cdg
Lipodystrophy, CNS hypomyelination, Oromotor apraxia, Generalized hypotonia, Tremor, Primary hypo... ORPHA:300536
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Distal sensory impairment, Onion bulb formation OMIM:616039
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90159
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal cord paralysis, ... OMIM:162500
Primary Lateral Sclerosis
Spasticity, Spastic gait, Motor axonal neuropathy, Somatic sensory dysfunction, Weakness due to u... ORPHA:35689
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... ORPHA:397946
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Lipoatrophy ORPHA:154
Lethal Congenital Contracture Syndrome 8
Distal sensory impairment, Distal arthrogryposis, Facial diplegia, Hypotonia, Peripheral hypomyel... OMIM:616287
Krabbe Disease
Progressive spasticity, Hypotonia, EEG abnormality, Decreased nerve conduction velocity, CNS demy... OMIM:245200
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Kyphoscoliosis, Peripheral axonal neuropathy OMIM:619099
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal sensory impairment, Axonal regeneration, Decreased number of peripheral mye... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Distal sensory impairment, Axonal degeneration/regeneration, Decreased number of p... OMIM:607677
Charcot-Marie-Tooth Disease, Type 4B2
Distal sensory impairment, Difficulty walking, Steppage gait, Decreased motor nerve conduction ve... OMIM:604563
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Distal sensory impairment, Decreased nerve conduction velocity, Gait di... ORPHA:99944
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Inability to walk, Lumbar hyperlordosis, Cerebral atrophy, Ataxia, Kyphosis, Waddling ... OMIM:616756
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Steppage gait, Peripheral axonal atrophy, Decreased motor nerve cond... OMIM:600882
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal sensory impairment, Gait disturbance, Optic atrophy, Onion bulb formation, Segmental perip... OMIM:311070
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Ataxia, Peripheral demyelination, Axonal loss, Dystonia OMIM:616684
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Distal sensory impairment, Progressive cerebellar ataxia, Spastic dysart... ORPHA:101111
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Stiff Skin Syndrome
Lipodystrophy, Knee flexion contracture, Camptodactyly, Elbow flexion contracture OMIM:184900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Increased LDL cholesterol concentration, Gait disturbance, Hypotonia, Decreased ce... ORPHA:98855
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis, Peripheral demyelination, Peripheral axonal neuropathy ORPHA:231445
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Limb myoclonus, Eyelid myoclonus, Inability to walk, Difficulty walking, Clumsine... ORPHA:2590
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal sensory impairment, Somatic sensory dysfunction, Steppage gait, Decreased motor nerve cond... OMIM:615376
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Male hypogonadism, Lo... OMIM:615381
Congenital Generalized Lipodystrophy
Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in females, Increased C... ORPHA:528
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Limb ataxia, Kyphosis, Peripheral axonal neuropathy, Gait ataxia, Optic atrophy, Cereb... OMIM:610743
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Increased LDL cholesterol concentration, Gait disturbance, Hypotonia, Decreased ce... ORPHA:98863
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Motor axonal neuropathy, Sensory axonal neuropathy, Abnormality of the vertebral column, Amyotrop... ORPHA:52430
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Increased LDL cholesterol concentration, Gait disturbance, Hypotonia, Decreased ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Increased LDL cholesterol concentration, Gait disturbance, Hypotonia, Decreased ce... ORPHA:98853
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipoatrophy, H... ORPHA:2457
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipodystrophy, Abnormal circulating lipid concentration, Lipoatrophy, Hyperlipoproteinemia, Reduc... ORPHA:1979
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Umbilical hernia, Hypotonia, Hyperglycemia, Transient neonatal diabetes mellit... ORPHA:99886
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Gait disturbance, Kyphosis, Ataxia ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Decrease... OMIM:608673
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Falls, Abnormal neuron morphology, Short stepped shuffling gait, Diffuse ce... ORPHA:412066
Coenzyme Q10 Deficiency, Primary, 8
Hypotonia, Generalized hypotonia, Peripheral demyelination, Flexion contracture, Elevated circula... OMIM:616733
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal sensory impairment, Steppage gait, Decreased number of large peripheral myelinated nerve f... OMIM:608340
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Alg3-Cdg
Lipodystrophy, Hypotonia, Abnormality of the endocrine system, Spastic tetraparesis, Arthrogrypos... ORPHA:79321
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia, Cellulitis, Insulin resistan... ORPHA:2348
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Microcephalic Primordial Dwarfism, Montreal Type
EEG abnormality, Hypertonia, Shagreen patch, Lipoatrophy ORPHA:2617
Methionine Adenosyltransferase I/Iii Deficiency
Hypermethioninemia, Peripheral demyelination, CNS demyelination, Dystonia OMIM:250850
Boucher-Neuhauser Syndrome
Ataxia, Abnormal upper motor neuron morphology, Spinocerebellar atrophy, Gait ataxia, Cerebellar ... OMIM:215470
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Gait disturbance, Tip-toe gait, Kyphosis, Spinal rigidity, Hyperlordosis OMIM:617404
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Inability to walk, Kyphosis, Facial palsy, Abnormal posturing, Cerebellar atrophy, Hyp... OMIM:128100
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Spastic paraplegia, Onion bulb ... OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Peripheral demyelination, Distal sensory impairment, Axonal degeneration/regeneration OMIM:607736
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy ORPHA:50811
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy OMIM:263570
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Axonal degeneration ORPHA:90103
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Gait disturbance, Kyphosis, Ataxia ORPHA:101078
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Weakness due to upper motor neuron dysfunction, Progressive cerebella... ORPHA:275872
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Paraplegia, Somatic sensory dysfunction, Myelitis ORPHA:71211
Autoinflammatory-Pancytopenia Syndrome
Lipodystrophy, Type I diabetes mellitus OMIM:619858
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Neonatal hypotonia,... OMIM:605253
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Ankle clonus, Impaired vibration sensation in the lo... OMIM:604360
Metachromatic Leukodystrophy
Spastic tetraplegia, Gait disturbance, Ataxia, Hypotonia, Generalized hypotonia, Decreased nerve ... OMIM:250100
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Cimdag Syndrome
Spasticity, Lipodystrophy, Ataxia, Hypogonadism, Hypotonia, Chorea, Dystonia OMIM:619273
Ane Syndrome
Delayed puberty, Motor neuron atrophy, Adrenocorticotropin deficient adrenal insufficiency, Lipoa... ORPHA:157954
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Autosomal Dominant Spastic Paraplegia Type 31
Distal sensory impairment, Gait disturbance, Difficulty walking, Impaired proprioception, Spastic... ORPHA:101011
Spastic Paraplegia 9A, Autosomal Dominant
Gait disturbance, Hiatus hernia, Hoffmann sign, Abnormal upper motor neuron morphology, Gait atax... OMIM:601162
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Distal sensory impairment, Steppage gait, Elevated circulating creatine kina... OMIM:614455
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Inability to walk, Facial diplegia, Hypotonia, Limb ... OMIM:218000
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Upper motor neuron dysfunction, Decreased sensory nerve c... OMIM:270550
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... OMIM:607791
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Mini... ORPHA:280365
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Tetraparesis, Difficulty walking, Ankle clonus, Abnormal lower motor neuron morpholog... OMIM:613954
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Decreased nerve conduction velocity, Onion bulb formation OMIM:608236
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Leukodystrophy, Peripheral demyelination DECIPHER:59
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy, CNS hypomyelination, Limb hypertonia, Hypothyroidism, Decreased response to growth... OMIM:618922
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Gait disturbance, Ataxia, Kyphosis, Optic atrophy ORPHA:99014
Mandibuloacral Dysplasia With Type A Lipodystrophy
Camptodactyly, Lipodystrophy, Insulin-resistant diabetes mellitus, Calcinosis, Impaired glucose t... OMIM:248370
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy, Hyperlipidemia, Type II diabetes mellitus, Insulin resistance ORPHA:90970
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Inability to walk, Absent brainstem auditory responses, Steppage gait, Optic nerve h... ORPHA:101085
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... ORPHA:40
Stiff Skin Syndrome
Impaired pain sensation, Abnormal circulating lipid concentration, Type II diabetes mellitus, Lip... ORPHA:2833
Spastic Paralysis, Infantile-Onset Ascending
Spastic tetraplegia, Abnormal lower motor neuron morphology, Achilles tendon contracture, Tetrapl... OMIM:607225
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Brachyolmia Type 1, Toledo Type
Gait disturbance, Irregular vertebral endplates, Short neck, Squared-off platyspondyly, Back pain... OMIM:271630
Rapidly Involuting Congenital Hemangioma
Lipoatrophy ORPHA:141184
Spondyloepiphyseal Dysplasia, Stanescu Type
Vertebral wedging, Platyspondyly, Beaking of vertebral bodies, Waddling gait, Kyphoscoliosis OMIM:616583
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Lipodystrophy, Hypotonia, Flexion contracture, Atrophic scars, Atypical scarring of skin ORPHA:75496
Charcot-Marie-Tooth Disease, Type 4B1
Distal sensory impairment, Decreased motor nerve conduction velocity, Facial palsy, Abnormal audi... OMIM:601382
Tangier Disease
Impaired pain sensation, Decreased circulating apolipoprotein A-I concentration, Facial diplegia,... OMIM:205400
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy OMIM:618453
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Hyperinsulinemia ORPHA:71529
Spinocerebellar Ataxia 29
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Truncal titubation, Dysdiado... OMIM:117360
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Unsteady gait, Ataxia, Loss of ambulation, Kyphosis, Peripheral axonal neuropathy OMIM:618124
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Generalized lipodystrophy, Hyperinsulinemia, Hyperg... OMIM:608612
Familial Multiple Lipomatosis
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic tetraplegia, Torticollis, Distal sensory impairment, Dysmyelinating leukodyst... OMIM:609136
Congenital Short Bowel Syndrome
Lipoatrophy ORPHA:2301
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Unsteady gait, Ataxia, Kyphosis, Cerebellar atrophy OMIM:300861
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Motor axonal neuropathy, Scoliosis, Inability to walk, Sensory axonal neuropathy, Optic disc pall... OMIM:609541
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Gait disturbance, Ataxia, Kyphosis, Cerebellar atrophy ORPHA:85317
Polyendocrine-Polyneuropathy Syndrome
Abnormal pyramidal sign, Ataxia, Central hypothyroidism, Decreased circulating follicle stimulati... ORPHA:453533
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Progressive spastic paraplegia, Optic disc pallor, Abnormality of extrapyrami... ORPHA:320406
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hyperuricemia, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia, Insulin r... ORPHA:79083
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Kyphosis, Squared-off platyspondyly, Back pain, Intervertebral space narro... OMIM:271530
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Impaired distal vibration sensation, Impaired distal tactile sens... OMIM:607080
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Congenital generalized lipodystrophy, Generalized lipodystrophy OMIM:608154
Gm1-Gangliosidosis, Type Iii
Scoliosis, Ataxia, Diffuse cerebral atrophy, Kyphosis, Platyspondyly, Anterior beaking of lumbar ... OMIM:230650
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Diaphragmatic paralysis, Atrophy of the spinal cord, Flexion contracture of fi... ORPHA:466768
Glutaric Acidemia I
Hypotonia, Generalized hypotonia, Delayed myelination, Spastic diplegia, Rigidity, Lateral ventri... OMIM:231670
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Tip-toe gait, Optic disc pallor, Abnormal posturing ORPHA:216866
Short Syndrome
Lipodystrophy, Inguinal hernia, Lipoatrophy, Absence of subcutaneous fat, Hyperglycemia, Glucose ... OMIM:269880
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Gait disturbance, Loss of ambulation, Decreased nerve conduction veloc... OMIM:615284
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:613435
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration OMIM:604320
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypotonia, Lipoatrophy ORPHA:261304
Proteasome-Associated Autoinflammatory Syndrome 2
Lipodystrophy, Elevated circulating C-reactive protein concentration OMIM:618048
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Peripheral axonal neuropathy OMIM:620011
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Steppage gait, Tip-toe gait, Kyphosis, Waddling gait, Hyperlordosis, Broad-based gait OMIM:615290
Congenital Analbuminemia
Hypoproteinemia, Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, H... ORPHA:86816
Juvenile Amyotrophic Lateral Sclerosis
CNS hypomyelination, Inability to walk, Upper limb spasticity, Dystonia, Ataxia, Head titubation,... ORPHA:300605
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral ... OMIM:602099
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Masa Syndrome
Kyphosis, Shuffling gait, Hyperlordosis OMIM:303350
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Spastic ataxia, Myoclonus, Onion bulb... OMIM:614487
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Acrogeria
Lipoatrophy ORPHA:2500
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Finger joint contracture, Lipodystrophy, Hypergonadotropic hypogonadism OMIM:212112
Huntington Disease-Like 1
Gait disturbance, Gait ataxia, Abnormal posturing, Cerebellar atrophy, Dysmetria, Cerebral cortic... ORPHA:157941
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Hypocholesterolemia, Myoclonus OMIM:610539
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Distal sensory impairment, Impaired glucose tolerance, Clonus, Absence of subcutan... OMIM:606721
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Unsteady gait, Ataxia, Difficulty walking, Lower limb spasticity, Progressive spastic... ORPHA:464282
Idiopathic Juvenile Osteoporosis
Gait disturbance, Kyphosis, Vertebral compression fracture ORPHA:85193
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis ORPHA:1875
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperinsulinemia, Hypertriglyc... OMIM:613327
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lack of facial subcutaneous fat... ORPHA:90156
Hypoglycemia, Leucine-Induced
Spasticity, Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Abetalipoproteinemia, Ataxia OMIM:200100
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Short neck, Kyphosis, Spinal rigidity, Hyperlordosis OMIM:300718
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Peripheral axonal degeneration, Atrophy/D... ORPHA:139399
Infantile-Onset X-Linked Spinal Muscular Atrophy
Mildly elevated creatine kinase, Abnormal anterior horn cell morphology, Infantile muscular hypot... ORPHA:1145
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Cerebral atrophy... OMIM:105550
Poems Syndrome
Lipodystrophy, Paresthesia, Hypogonadism, Increased circulating prolactin concentration, Hyperest... ORPHA:2905
Potocki-Lupski Syndrome
EEG abnormality, Delayed myelination, Generalized hypotonia, Hypothyroidism, Hypocholesterolemia OMIM:610883
Insulin-Like Growth Factor I, Resistance To
Diabetes mellitus, Reduced subcutaneous adipose tissue, Lipodystrophy, Increased circulating insu... OMIM:270450
Cdkl5-Deficiency Disorder
Scoliosis, Gait disturbance, Kyphosis, Difficulty walking ORPHA:505652
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Scoliosis, Ataxia, Kyphosis, Abnormality of the cervical spine, Cerebral... ORPHA:48431
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Cerebral atrophy, Ataxia, Titubation, Cerebellar atrophy, Dysmetria OMIM:619405
Short Syndrome
Lipodystrophy, Inguinal hernia, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... ORPHA:3163
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Generalized lipodystrophy, Hyperinsulinemia, Hypertrigl... ORPHA:79086
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Impaired vibratory sen... OMIM:246700
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Decreased LDL cholesterol concentration, Diabetes insipidus, Impaired proprioception, Cha... ORPHA:96180
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis OMIM:618392
Fucosidosis
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Lipoatrophy, Hypotonia, Hypothyroidism ORPHA:349
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Hypotonia, Lipodystrophy, Generalized hypotonia OMIM:219200
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Motor axonal neuropathy, Gait disturbance, Ata... OMIM:614298
Autosomal Recessive Spastic Paraplegia Type 35
Frequent falls, Oculomotor apraxia, Difficulty walking, Ankle clonus, Generalized dystonia, Dysdi... ORPHA:171629
Machado-Joseph Disease Type 3
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Facial-lingual fa... ORPHA:276244
Dpagt1-Cdg
Hypsarrhythmia, Infantile muscular hypotonia, CNS hypomyelination, Lipodystrophy, Ataxia, Camptod... ORPHA:86309
Ruijs-Aalfs Syndrome
Lipodystrophy, Hypogonadism, Elbow flexion contracture OMIM:616200
Lopes-Maciel-Rodan Syndrome
Scoliosis, Cerebral atrophy, Unsteady gait, Kyphosis, Cerebellar vermis atrophy, Cerebellar atrop... OMIM:617435
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide con... ORPHA:79299
Aredyld Syndrome
Abnormal dental enamel morphology, Type II diabetes mellitus, Type I diabetes mellitus, Lipoatrophy ORPHA:1133
Leukodystrophy, Hypomyelinating, 5
Abnormal pyramidal sign, CNS hypomyelination, Truncal titubation, Loss of ambulation, Decreased m... OMIM:610532
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Diabetes mellitus, Umbilical hernia, Hyperinsulinemia, Reduced intraabdominal adip... OMIM:608594
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Sensory axonal neuropathy, Clumsiness, Hypotonia, Loss of ambulation, Athetosis, Decrease... OMIM:271245
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Ataxia, Pseudobulbar paralysis, Symmetric peripheral demyelination, Babinski sign, Le... OMIM:169500
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... OMIM:609813
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Flexion contracture, Lipodystrophy, Panniculitis OMIM:617591
Encephalocraniocutaneous Lipomatosis
Spasticity, Lipodystrophy, Hemiparesis, Hemiplegia, Rigidity, Tetraplegia, Paralysis, Multiple li... ORPHA:2396
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve conduction velocity, Peri... ORPHA:101082
Becker Nevus Syndrome
Spina bifida occulta, Lipoatrophy ORPHA:64755
Werner Syndrome
Chondrocalcinosis, Lipodystrophy, Hypogonadism, Lipoatrophy, Thyroid carcinoma, Type II diabetes ... ORPHA:902
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Spinocerebellar Ataxia Type 18
Titubation, Peripheral axonal neuropathy, Gait ataxia, Cerebellar atrophy, Dysmetria ORPHA:98771
H Syndrome
Delayed puberty, Lipodystrophy, Camptodactyly, Hypogonadism, Diabetes mellitus, Hypertriglyceride... ORPHA:168569
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Umbilical hernia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hypertr... OMIM:269700
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Spasticity, Lipodystrophy, Infantile muscular hypotonia, Inguinal hernia, Abnormal subcutaneous f... ORPHA:357074
Japanese Encephalitis
Paucity of anterior horn motor neurons, EEG abnormality, Pill-rolling tremor, Respiratory paralys... ORPHA:79139
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Gait disturbance, Kyphosis ORPHA:2429
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia OMIM:620007
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... ORPHA:324575
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Frequent falls, Decreased sensory nerve conduction velocity, Distal sensory impairment, Hand trem... OMIM:162400
Progeroid Syndrome, Petty Type
Umbilical hernia, Reduced subcutaneous adipose tissue, Shagreen patch, Lipoatrophy ORPHA:2963
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Ataxia, Hypotonia, Steatorrhea, Generalized hyp... OMIM:266510
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Caudate atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy OMIM:617892
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Cerebral atrophy, Upper limb dysmetria, Kyphosis, Limb dysmetria, Spastic gait, Cerebe... OMIM:614409
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebella... ORPHA:478029
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy OMIM:616811
Autosomal Recessive Spastic Paraplegia Type 55
Spasticity, Decreased sensory nerve conduction velocity, Distal sensory impairment, Arthrogryposi... ORPHA:320375
Spinocerebellar Ataxia 25
Impaired pain sensation, Oculomotor apraxia, Ataxia, Decreased number of peripheral myelinated ne... OMIM:608703
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal sensory impairment, Axonal regeneration, Decreased motor nerve conduction velocity, Decrea... OMIM:607831
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Knee flexion contracture, Hypocholesterolemia, Optic ner... OMIM:618156
Aicardi-Goutières Syndrome
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Difficulty walking, Lipoatrophy, Diabet... ORPHA:51
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Elevated circulating C-reactive protein concentration, Panniculitis OMIM:617099
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal sign, Motor axonal neuropathy, Distal sensory impairment, Sensory axonal neuro... OMIM:256850
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL... OMIM:615558
Baralle-Macken Syndrome
Global brain atrophy, Inability to walk, Kyphosis OMIM:619255
Spastic Paraplegia 31, Autosomal Dominant
Distal sensory impairment, Ankle clonus, Spastic paraplegia, Spastic gait, Babinski sign, Lower l... OMIM:610250
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Kyphosis OMIM:614898
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Absence of subcutaneous fat, Lateral ventricle dilatation, Opisthotonu... OMIM:614098
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Spasticity, Hypotonia, Peripheral axonal neuropathy, Dysplastic corpus callosum, Hypocholesterolemia OMIM:618810
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Abnormal peripheral nerve morphology by anatomical site, Decreased serum estradiol... ORPHA:168563
De Barsy Syndrome
Lipodystrophy, Inguinal hernia, Infantile muscular hypotonia, Progressive cerebellar ataxia, Umbi... ORPHA:2962
Marfanoid-Progeroid-Lipodystrophy Syndrome
Dural ectasia, Lipoatrophy, Generalized lipodystrophy, Hypotonia, Absence of subcutaneous fat, Re... OMIM:616914
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hypothyroidism, Hypotonia, Steatorrhea, Abnormal subcutaneous fat tissue distribution, Tr... OMIM:212065
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance, Calcinosis ORPHA:90154
De Sanctis-Cacchione Syndrome
Global brain atrophy, Ataxia, Cerebral atrophy, Scissor gait, Axonal degeneration, Optic atrophy,... OMIM:278800
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Ataxia, Methylmalonic acidemia, Hypotonia, Elevated circulating palmitoleylcarnit... ORPHA:79282
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Graft Versus Host Disease
Hyperbilirubinemia, Lipodystrophy, Fasciitis, Dupuytren contracture ORPHA:39812
Multiple Sulfatase Deficiency
Spasticity, Ataxia, CNS demyelination, Neonatal hypotonia, Peripheral demyelination OMIM:272200
Molybdenum Cofactor Deficiency, Complementation Group A
Myoclonic spasms, Spastic tetraplegia, Abnormal muscle tone, Hypouricemia, Elevated urinary S-sul... OMIM:252150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hy... OMIM:616033
Keppen-Lubinsky Syndrome
Lipodystrophy, Congenital generalized lipodystrophy, Opisthotonus, Spastic tetraparesis, Flexion ... ORPHA:435628
Abetalipoproteinemia
Ataxia, Hypothyroidism, Steatorrhea, Decreased LDL cholesterol concentration, Impaired propriocep... ORPHA:14
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Distal sensory impairment, Infantile muscular hypotonia, Inability to wa... ORPHA:254930
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Spastic tetraplegia, Hypouricemia, Hypotonia, Peripheral demyelination, Opistho... OMIM:252160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Difficulty walking, Tip-toe gait, Kyphosis, Facial palsy, Cerebellar... OMIM:606612
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Gait disturbance, Ataxia, Sensory axonal neuropathy, Atrophy/Degeneration affecting th... ORPHA:88644
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
East Syndrome
Hyperaldosteronism, Inability to walk, Increased circulating renin level, Ataxia, Difficulty walk... ORPHA:199343
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Alg12-Cdg
Camptodactyly, Abnormal adipose tissue morphology, Hypotonia, Recurrent hypoglycemia, Delayed mye... ORPHA:79324
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Amyotrophic Lateral Sclerosis 21
Distal sensory impairment, Abnormal lower motor neuron morphology, Decreased nerve conduction vel... OMIM:606070
Brachyolmia Type 3
Scoliosis, Spinal cord compression, Short neck, Kyphosis, Platyspondyly OMIM:113500
Myopathy, Centronuclear, 2
Scoliosis, Kyphosis, Facial palsy, Waddling gait, Hyperlordosis OMIM:255200
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Panniculitis, Generalized lipodystrophy OMIM:619183
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Winchester Syndrome
Kyphosis OMIM:277950
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Difficulty walking, Tip-toe gait, Kyphosis, Waddling gait, Hyperlord... OMIM:607155
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Gait disturbance, Kyphosis ORPHA:2181
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Gait disturbance, Abnormal posturing, Titubation ORPHA:225147
Mody
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Glycosuria, Diabetic ketoacido... ORPHA:552
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... ORPHA:276580
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Sensory axonal neuropathy, Generalized hypotonia, Decreased nerve conduction veloc... OMIM:618733
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide level, Let... ORPHA:276575
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Paucity of anterior horn motor neurons OMIM:253310
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Inability to walk, Kyphosis, Cerebral atrophy ORPHA:500180
Insulinoma
Abnormality of pain sensation, Paresthesia, Pituitary prolactin cell adenoma, Fasting hyperinsuli... ORPHA:97279
Cerebrotendinous Xanthomatosis
Gait disturbance, Global brain atrophy, Thoracic kyphosis, Ataxia, Optic neuropathy, Optic disc p... ORPHA:909
Trigeminal Neuralgia
Paresthesia, Somatic sensory dysfunction, CNS demyelination, Cranial nerve compression, Periphera... ORPHA:221091
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Pelizaeus-Merzbacher Disease
Scoliosis, Gait disturbance, Ataxia, Kyphosis, Optic atrophy, Cerebral cortical atrophy, Choreoat... ORPHA:702
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Spastic tetraplegia, EEG abnormality, Progressive spastic quadriplegia, Cerebral... OMIM:619475
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Kyphosis OMIM:618237
Alg9-Cdg
Lipodystrophy, Torticollis, Hypoplasia of the ovary, Hypotonia, Delayed myelination, Omphalocele,... ORPHA:79328
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Gait disturbance, Progressive cerebellar ataxia, Ataxia,... OMIM:277460
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Loss of ambulation, Amyotrophic lateral sclerosis OMIM:608627
Marinesco-Sjogren Syndrome
Scoliosis, Limb ataxia, Ataxia, Cerebellar cortical atrophy, Kyphosis, Gait ataxia, Cerebellar at... OMIM:248800
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypertriglyceridemia, Hypercholesterolemia, Lipoatrophy ORPHA:363618
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... OMIM:620211
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Lipodystrophy, Impaired glucose tolerance, Adipose tissue loss, Flexion ... OMIM:256040
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Infantile muscular hypotonia, Ataxia, Hyperalaninemia, Chorea, Demyelinating peripher... ORPHA:255210
Charcot-Marie-Tooth Disease Type 4C
Frequent falls, Impaired pain sensation, Inability to walk, Difficulty walking, Impaired distal v... ORPHA:99949
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Peho Syndrome
Hypsarrhythmia, Peripheral dysmyelination, Generalized hypotonia, Myoclonus, Severe muscular hypo... OMIM:260565
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis OMIM:301900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Inguinal hernia, Hyperammonemia, Ataxia, Partial agenesis of the corpus callosum, Hyp... OMIM:220111
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Optic atrophy, Atypical scarring of skin ORPHA:791
Bangstad Syndrome
Ataxia, EEG abnormality, Increased circulating cortisol level, Primary gonadal insufficiency, Abn... ORPHA:1227
Angioedema, Hereditary, 1
Axonal degeneration, Peripheral axonal neuropathy OMIM:106100
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Asymptomatic hyperammonemia, Fasting hyperinsulinem... ORPHA:35878
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Atypical Rett Syndrome
Scoliosis, Gait disturbance, Inability to walk, Loss of ambulation, Kyphosis, Gait ataxia ORPHA:3095
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Gait disturbance, Difficulty walking, Abnorma... ORPHA:93314
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955
Tenorio Syndrome
Gait disturbance, Clumsiness, Hypotonia, Hypoinsulinemia, Cerebral palsy, Hypoglycemia OMIM:616260
Neuropathy, Hereditary Sensory, Type Ie
Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Metatropic Dysplasia
Long coccyx, Scoliosis, Relatively short spine, Anisospondyly, Kyphosis, Platyspondyly, Periphera... OMIM:156530
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cerebral atrophy OMIM:614857
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Impaired proprioception ORPHA:71
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria OMIM:606528
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Flexion contracture of finger, Elevated circulating thyroid-stimulating hormone conc... OMIM:601812
Typical Nemaline Myopathy
Scoliosis, Gait disturbance, Facial diplegia, Short neck, Kyphosis, Spinal rigidity, Facial palsy... ORPHA:171436
Flynn-Aird Syndrome
Scoliosis, Cerebral cortical atrophy, Kyphosis, Ataxia ORPHA:2047
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Scoliosis, Short neck, Ovoid vertebral bodies, Cervical subluxation, Kyphosi... OMIM:253000
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum OMIM:112350
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Kyphosis, Facial palsy, Hyperlordosis, Broad-based gait OMIM:181405
Hypomelanosis Of Ito
Scoliosis, Kyphosis, Cerebral atrophy OMIM:300337
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, CNS hypomyelination, Leukodystrophy, Spasticity, Ataxia, Limb hypertonia... ORPHA:3455
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Cockayne Syndrome A
Gait disturbance, Ataxia, Peripheral dysmyelination, Hypogonadism, Decreased nerve conduction vel... OMIM:216400
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Rett Syndrome
Scoliosis, Kyphosis, Gait apraxia, Gait ataxia, Cerebral cortical atrophy, Truncal ataxia OMIM:312750
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Hypotonia, Generalized hypotonia, Decreased nerve co... OMIM:201300
Jaberi-Elahi Syndrome
Scoliosis, Inability to walk, Kyphosis, Gait ataxia, Cerebellar vermis atrophy, Optic atrophy, Ch... OMIM:617988
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Cervical instability, Lumbar hyperlordosis, Spinal cord compression, Short neck, Kypho... ORPHA:94068
Perlman Syndrome
Femoral hernia, Hypotonia, Inguinal hernia, Hyperinsulinemia ORPHA:2849
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Scoliosis, Lumbar hyperlordosis, Short neck, Ovoid vertebral bodies, Kyphosi... OMIM:183900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Increased circulating renin level, Ataxia, Hypotonia, Generalized hypotonia, ... OMIM:612780
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Smith-Mccort Dysplasia 1
Scoliosis, Short neck, Kyphosis, Atlantoaxial instability, Platyspondyly, Beaking of vertebral bo... OMIM:607326
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Paresthesia, Hyperalaninemia, Peripheral axonal neur... ORPHA:298
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Spinal cord compression, Short neck, Kyphosis, Fused cervical vertebrae, Hyperlordosis ORPHA:2522
Sandifer Syndrome
Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Srd5A3-Cdg
Abnormal sacrum morphology, Ataxia, Kyphosis, Optic atrophy, Cerebellar atrophy ORPHA:324737
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Cerebellar atrophy, Kyphosis, Cerebral atrophy OMIM:619797
Metatropic Dysplasia
Scoliosis, Kyphosis, Hypoplastic cervical vertebrae, Abnormal intervertebral disk morphology, Abn... ORPHA:2635
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Facial palsy, Neuropathic spinal arthropathy, Cerebellar atrophy OMIM:615084
Atypical Werner Syndrome
Neoplasm of the thyroid gland, Delayed puberty, Chondrocalcinosis, Glycosuria, Lipoatrophy, Diabe... ORPHA:79474
Charcot-Marie-Tooth Disease Type 4B2
Distal sensory impairment, Paresthesia, Inability to walk, Difficulty walking, Tip-toe gait, Trem... ORPHA:99956
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Increased serum testosterone level, Sudanophilic leukodystrophy, Lipoat... OMIM:264090
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperlipidemia, Hyperinsulinemia ORPHA:329249
Hall-Riggs Mental Retardation Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Syringomyelia, Distal sensory impairment, Infantile muscular hypotonia, Decreased nerve conductio... ORPHA:477817
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Tip-toe gait, Kyphosis, Kyphoscoliosis, Hyperlordosis ORPHA:536516
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Type II diabetes mellitus, Keloids, Hyperinsulinemia ORPHA:3085
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Decreased serum leptin, Lipoatrophy OMIM:614008
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Wrinkly Skin Syndrome
Lipodystrophy, Inguinal hernia, Infantile muscular hypotonia, Progressive cerebellar ataxia, Umbi... ORPHA:2834
Tangier Disease
Syringomyelia, Facial diplegia, Peripheral axonal neuropathy, Hypertriglyceridemia, Hypocholester... ORPHA:31150
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Lumbar hyperlordosis, Short neck, Kyphosis, Hump-shaped mound of bone in central and p... OMIM:313400
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Babinski sign, Amyotrophic lateral sclerosis OMIM:612069
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Difficulty walking, Kyphosis, Waddling gait, Kyphoscoliosis OMIM:300280
Pseudoachondroplasia
Scoliosis, Lumbar hyperlordosis, Cervical cord compression, Kyphosis, Platyspondyly, Beaking of v... OMIM:177170
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Distal sensory impairment, Hypoglycemia, Ataxia, Broad-based gait, Hypotonia, Corneal scarring, R... OMIM:256810
Alg1-Cdg
Scoliosis, Cerebellar atrophy, Kyphosis, Cerebral atrophy ORPHA:79327
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Abnor... ORPHA:263455
Sialidosis Type 2
Kyphosis, Ataxia ORPHA:87876
Mandibuloacral Dysplasia Progeroid Syndrome
Generalized lipodystrophy, Generalized hypotonia, Hypertriglyceridemia, Glucose intolerance, Elev... OMIM:619127
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Barber-Say Syndrome
Lipodystrophy OMIM:209885
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased serum leptin OMIM:617885
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Mucolipidosis Iii Gamma
Kyphosis, Scoliosis, Hyperlordosis, Short neck OMIM:252605
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis OMIM:615761
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia, Reduced C-peptide level, Hypog... ORPHA:2126
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Inability to walk, Short neck, Kyphosis, Facial palsy, Brain atrophy OMIM:301041
Cockayne Syndrome B
Ataxia, Peripheral dysmyelination, Decreased nerve conduction velocity, Optic atrophy, Tremor, Re... OMIM:133540
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Scoliosis, Short neck, Spinal rigidity ORPHA:75840
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Infantile muscular hypotonia, Multiple pancrea... ORPHA:79644
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck ORPHA:178148
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Inability to walk, Cerebral atrophy, Ataxia, Unsteady gait, Thoracolumbar scoliosis, K... OMIM:618443
Sialidosis Type 1
Scoliosis, Gait disturbance, Ataxia, Kyphosis, Abnormal form of the vertebral bodies ORPHA:812
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Ataxia, Kyphosis, Facial palsy, Gait imbalance, Truncal ataxia, Cranial nerve motor loss OMIM:211530
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Lipoatrophy ORPHA:276280
Vocal Cord And Pharyngeal Distal Myopathy
Distal sensory impairment, Unsteady gait, Difficulty walking, Decreased nerve conduction velocity... ORPHA:600
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... ORPHA:66628
Donohue Syndrome
Fasting hypoglycemia, Adipose tissue loss, Postprandial hyperglycemia, Pancreatic islet-cell hype... OMIM:246200
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... ORPHA:179494
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphoscoliosis, Kyphosis OMIM:618484
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Choreoacanthocytosis
Loss of ambulation, Elevated circulating creatine kinase concentration, Slurred speech, Laryngeal... ORPHA:2388
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Difficulty walking, Kyphosis, Platyspondyly, Neurodegeneration, Optic atrophy, Sclerotic ... OMIM:618476
Kaufman Oculocerebrofacial Syndrome
Hypotonia, Generalized hypotonia, Optic disc pallor, Axial hypotonia, Hypocholesterolemia OMIM:244450
Galactokinase Deficiency
Speech apraxia, Increased level of galactitol in plasma, Hypergalactosemia, Hyperinsulinemia, Hyp... ORPHA:79237
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Cerebellar vermis atrophy, Kyphosis OMIM:300354
Neonatal Marfan Syndrome
Flexion contracture, Hypotonia, Lipoatrophy ORPHA:284979
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Abnormal lower motor neuron morphology, Frontotemporal... ORPHA:100070
Basilar Impression, Primary
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck OMIM:109500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mucopolysaccharidosis Type 4
Scoliosis, Gait disturbance, Short neck, Kyphosis, Platyspondyly, Spinal canal stenosis, Hyperlor... ORPHA:582
Dubowitz Syndrome
Inguinal hernia, Hypotonia, Hypocholesterolemia, Generalized hypotonia OMIM:223370
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
Bruck Syndrome 1
Vertebral wedging, Scoliosis, Kyphosis, Platyspondyly OMIM:259450
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Kyphosis ORPHA:352490
Kanzaki Disease
Axonal degeneration, Peripheral axonal neuropathy, Cerebral atrophy OMIM:609242
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Scoliosis, Ataxia, Ovoid vertebral bodies, Cervical subluxation, Kyphosis, P... OMIM:253010
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Cerebellar atrophy, Kyphosis, Spinal rigidity ORPHA:352447
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Schaaf-Yang Syndrome
Scoliosis, Inability to walk, Kyphosis OMIM:615547
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Progressive spastic paraplegia, Basal lamina onion bulb formation, Spastic gait, Demyelinating pe... ORPHA:2821
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Cerebellar atrophy, Kyphosis, Short neck OMIM:608776
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Sacral dimple, Kyphosis, Spina bifida occulta, Cerebral cortical atrophy OMIM:618291
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Cockayne Syndrome Type 2
Scoliosis, Gait disturbance, Difficulty walking, Ataxia, Kyphosis ORPHA:90322
Bdv Syndrome
Delayed puberty, Infantile muscular hypotonia, Reduced TSH response to thyrotrophin-releasing hor... OMIM:619326
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... ORPHA:71212
Intellectual Developmental Disorder, X-Linked, Syndromic 14