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Gene: Reep1 MGI:1098827

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.

Human diseases associated with Reep1 (5 diseases)
Human diseases predicted to be associated with Reep1 (761 diseases)

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

Disease	Matching phenotypes	Source
Autosomal Dominant Spastic Paraplegia Type 31	Spastic tetraparesis, Impaired proprioception, Distal sensory impairment, Hypertonia, Gait distur...	ORPHA:101011
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration	OMIM:620011
Spastic Paraplegia 31, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Distal sensory impairment, Ankle clonus...	OMIM:610250
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity	ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751

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

Disease	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	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Kyphoscol...	OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Gait disturbance, Scoliosis, Axonal degeneration	OMIM:616155
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Dec...	ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis	OMIM:611067
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Axonal degeneration, Steppage gait, Tip-toe gait, Axonal degenera...	OMIM:614436
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti...	ORPHA:206594
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co...	ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a...	OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Decreased compound muscle action potential amplitude, Babinski sign, Imp...	OMIM:618279
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,...	DECIPHER:29
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem...	OMIM:614877
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ...	OMIM:611228
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio...	ORPHA:280234
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Spastic gait	OMIM:611637
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insu...	OMIM:612526
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:607706
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration, Gait disturbance, Decreased number of p...	OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis, Axonal degeneration	OMIM:618138
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Amyotrophic Lateral Sclerosis 19	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:615515
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance	ORPHA:247604
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante...	OMIM:611890
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Gait ...	ORPHA:88628
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Peripheral axonal neurop...	ORPHA:99953
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, EEG abnormality, Axonal loss, Lateral ventricle dilatation, Gait disturbance, Myoc...	OMIM:221770
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ...	OMIM:208920
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance	OMIM:608030
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607734
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness...	ORPHA:2386
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Falls, Scoliosis	OMIM:618811
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl...	OMIM:615035
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Spastic Paraplegia 18B, Autosomal Recessive	Inability to walk, Kyphosis, Gait disturbance, Scoliosis	OMIM:611225
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner...	OMIM:302800
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Claw hand deformity, Paralysis, Decreased number of la...	OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi...	OMIM:606483
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Hypotonia, Gait ataxia,...	OMIM:249900
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ...	OMIM:615185
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:614373
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118210
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90160
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118200
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P...	OMIM:620378
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Axonal loss, ...	OMIM:617672
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Decreased sensory nerve conduction velocity, ...	OMIM:609033
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609311
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu...	ORPHA:435660
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Generalized hypotoni...	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
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro...	OMIM:615490
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy...	OMIM:601455
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin...	ORPHA:79085
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118220
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti...	OMIM:615238
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90157
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Axonal degeneration, Cerebral atrophy, Pe...	OMIM:604168
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:618184
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip...	ORPHA:435651
Charcot-Marie-Tooth Disease Type 4A	Frequent falls, Impaired distal proprioception, Decreased number of large peripheral myelinated n...	ORPHA:99948
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At...	ORPHA:206448
Ddost-Cdg	Lipodystrophy, Tremor, Oromotor apraxia, CNS hypomyelination, Generalized hypotonia, Primary hypo...	ORPHA:300536
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Kyphoscoliosis, Steppage gait, Peripheral...	OMIM:605588
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio...	OMIM:610100
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:616039
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90159
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo...	OMIM:162500
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia	ORPHA:79084
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Familial Isolated Dilated Cardiomyopathy	Lipoatrophy, Elevated circulating creatine kinase concentration	ORPHA:154
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Hypotonia, Distal sensory impairment, Facial diplegia,...	OMIM:616287
Krabbe Disease	Axial hypotonia, Decreased nerve conduction velocity, Optic atrophy, Hypotonia, EEG abnormality, ...	OMIM:245200
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis	OMIM:619099
Membranoproliferative Glomerulonephritis, X-Linked	Lipodystrophy	OMIM:305800
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista...	OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene...	OMIM:607677
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:604563
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Diabetes melli...	OMIM:615381
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i...	ORPHA:99944
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Cereb...	OMIM:616756
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ...	OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:600882
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:98855
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination	OMIM:616684
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Stiff Skin Syndrome	Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture	OMIM:184900
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s...	ORPHA:101111
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac...	ORPHA:2590
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception	ORPHA:231445
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large...	OMIM:615376
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:98863
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellitus, Adipose ti...	ORPHA:528
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:98853
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap...	OMIM:607225
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Limb ataxia, Gait atax...	OMIM:610743
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Falls, Shuffling...	ORPHA:412066
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal ...	ORPHA:52430
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Flexion contracture, Type I diab...	ORPHA:1979
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:101075
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Cryptorchidism, EEG abnormality, Hypertonia, Shagreen patch	ORPHA:2617
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Hy...	ORPHA:99886
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage...	OMIM:608340
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Elevated circulating creatinine concentration, Hypotonia, Generalized hypoto...	OMIM:616733
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy	ORPHA:79087
Alg3-Cdg	Lipodystrophy, Spastic tetraparesis, Abnormality of the endocrine system, Hypotonia, Hypertonia, ...	ORPHA:79321
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, D...	ORPHA:2348
Ectodermal Dysplasia, Trichoodontoonychial Type	Lipoatrophy	ORPHA:1818
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Hypermethioninemia, Dystonia	OMIM:250850
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Facial palsy, Hyperlordosis, Inability to walk, Kyphosis, Scoliosis, Abnormal...	OMIM:128100
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, Scoliosis	OMIM:617404
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:101078
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p...	OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Generalized lipodystrophy	ORPHA:50811
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Gait disturbance	OMIM:263570
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia	ORPHA:90103
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Neuromyelitis Optica Spectrum Disorder	Myelitis, Somatic sensory dysfunction, Peripheral demyelination, Paraplegia	ORPHA:71211
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral hypomyelination, Neonatal hypotonia, Onion ...	OMIM:605253
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Autoinflammatory-Pancytopenia Syndrome	Type I diabetes mellitus, Lipodystrophy	OMIM:619858
Cimdag Syndrome	Lipodystrophy, Ataxia, Chorea, Hypotonia, Hypogonadism, Dystonia, Spasticity	OMIM:619273
C3 Glomerulopathy	Elevated circulating creatinine concentration, Lipodystrophy	ORPHA:329918
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90158
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Babinski s...	OMIM:604360
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Decreased...	ORPHA:157954
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap...	OMIM:250100
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Autosomal Dominant Spastic Paraplegia Type 31	Spastic tetraparesis, Impaired proprioception, Distal sensory impairment, Hypertonia, Gait distur...	ORPHA:101011
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hiatus hernia, Babinski sign...	OMIM:601162
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Elevated circulating creatine kinase concentration, Distal sensory impairmen...	OMIM:614455
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Lipodystrophy, Cryptorchidism, Flexion contracture, Hypotonia, Atypical scarring of skin, Atrophi...	ORPHA:75496
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege...	OMIM:218000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	ORPHA:280365
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De...	OMIM:270550
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r...	OMIM:607791
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ele...	OMIM:613954
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Axial hypotonia, Lipodystrophy, Decreased response to growth hormone stimulation test, Panhypopit...	OMIM:618922
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Demyelinating motor neuropathy, Impaired proprioception, Han...	ORPHA:101085
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li...	OMIM:248370
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Kyphosis, Optic atrophy, Gait disturbance, Scoliosis	ORPHA:99014
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Stiff Skin Syndrome	Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus, Impaired pain s...	ORPHA:2833
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Axonal loss	OMIM:300857
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ...	OMIM:271630
Rapidly Involuting Congenital Hemangioma	Lipoatrophy	ORPHA:141184
Spondyloepiphyseal Dysplasia, Stanescu Type	Waddling gait, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies	OMIM:616583
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycem...	ORPHA:453533
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation	OMIM:618124
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue	ORPHA:71529
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Cerebral dysmyelination, Decreased nerv...	OMIM:609136
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ...	OMIM:117360
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Congenital Short Bowel Syndrome	Lipoatrophy	ORPHA:2301
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Inability to walk, Kyphosis, Optic atrophy, Scoliosis, Sensory axonal neuropat...	OMIM:609541
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitu...	ORPHA:79083
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Hype...	OMIM:607080
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
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Congenital generalized lipodystrophy, Generalized lipodystrophy	OMIM:608154
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Generalized hypotonia, Impair...	ORPHA:466768
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar ...	OMIM:230650
Glutaric Acidemia I	Hypoglycemia, Rigidity, Delayed myelination, Hypotonia, Spastic diplegia, Opisthotonus, Choreoath...	OMIM:231670
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Insulin resistance, Absence of subcutaneous fat, Ins...	OMIM:269880
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Tip-toe gait, Gait disturbance, Abnormal posturing	ORPHA:216866
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Loss of ambulat...	OMIM:615284
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:613435
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Hypotonia	ORPHA:261304
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration	OMIM:620011
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Broad-based gait, Hyperlordosis, Kyphosis, Steppage gait, Tip-toe gait, Scoliosis	OMIM:615290
Congenital Analbuminemia	Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H...	ORPHA:86816
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Degeneration of anterior horn cells, Peripheral axonal degeneration, Axonal degeneration	OMIM:604320
Proteasome-Associated Autoinflammatory Syndrome 2	Lipodystrophy, Elevated circulating C-reactive protein concentration	OMIM:618048
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, CNS...	ORPHA:300605
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ...	OMIM:614487
Masa Syndrome	Kyphosis, Shuffling gait, Hyperlordosis	OMIM:303350
Acrogeria	Lipoatrophy	ORPHA:2500
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Lipodystrophy, Finger joint contracture	OMIM:212112
Huntington Disease-Like 1	Cerebellar atrophy, Dysmetria, Gait ataxia, Gait disturbance, Abnormal posturing, Cerebral cortic...	ORPHA:157941
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Myoclonus, Intention tremor	OMIM:610539
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin...	ORPHA:1145
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Delayed peripheral myelination, Pu...	ORPHA:464282
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin ...	OMIM:613327
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Gait disturbance	ORPHA:1875
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Lack of facial sub...	ORPHA:90156
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Abetalipoproteinemia	Abetalipoproteinemia, CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Potocki-Lupski Syndrome	Delayed myelination, EEG abnormality, Generalized hypotonia, Hypocholesterolemia, Hypothyroidism	OMIM:610883
Adrenomyeloneuropathy	Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract...	ORPHA:139399
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Increased circulating insulin-like growth...	OMIM:270450
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma...	OMIM:256850
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n...	OMIM:105550
Cdkl5-Deficiency Disorder	Kyphosis, Difficulty walking, Gait disturbance, Scoliosis	ORPHA:505652
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Kyphosis, Unsteady gait, Cerebral atrophy, Scoliosis, Cerebe...	OMIM:617435
Poems Syndrome	Papilledema, Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adren...	ORPHA:2905
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Dysmetria, Scoliosis, Abnormality of the cervical spine, Cerebral cortical atro...	ORPHA:48431
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Spasticity, Ataxia, Hypoglycemia	OMIM:240800
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis	OMIM:618392
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ...	ORPHA:79086
Werner Syndrome	Lipoatrophy, Lipodystrophy, Insulin resistance, Thyroid carcinoma, Hypogonadism, Type II diabetes...	ORPHA:902
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Ataxia, Elevated circulating creatine kinase concentration, Chaddoc...	ORPHA:96180
Fucosidosis	Lipoatrophy, Abnormal pyramidal sign, Spastic tetraplegia, Hypotonia, Spasticity, Hypothyroidism	ORPHA:349
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Lipodystrophy, Hypotonia, Generalized hypotonia	OMIM:219200
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Elevated circ...	OMIM:614298
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ...	ORPHA:171629
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Facial-lingual fasciculatio...	ORPHA:276244
Aredyld Syndrome	Type I diabetes mellitus, Type II diabetes mellitus, Lipoatrophy, Abnormal dental enamel morphology	ORPHA:1133
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Hypogonadism, Lipodystrophy	OMIM:616200
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Axial hypotonia, Truncal titubation, Babinski sign, Ab...	OMIM:610532
Dpagt1-Cdg	Lipodystrophy, Infantile axial hypotonia, Ataxia, Akinesia, Tremor, Inability to walk, Flexion co...	ORPHA:86309
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ...	OMIM:608594
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Leukodystrophy...	OMIM:169500
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy...	ORPHA:79299
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Hypergonadotropic hypogonadism, Decreased number of large peripher...	OMIM:271245
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia	OMIM:620007
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Delayed puberty, Azoospermia, Hypogonadis...	ORPHA:168569
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Somatic sensory dysfunction, Elevated circulating creatine kinase c...	ORPHA:101082
Becker Nevus Syndrome	Spina bifida occulta, Lipoatrophy	ORPHA:64755
Chylomicron Retention Disease	Impaired vibratory sensation, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminem...	OMIM:246700
Proteasome-Associated Autoinflammatory Syndrome 3	Panniculitis, Flexion contracture, Lipodystrophy, Hypertriglyceridemia	OMIM:617591
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Encephalocraniocutaneous Lipomatosis	Lipodystrophy, Paralysis, Rigidity, Tetraplegia, Hemiparesis, Multiple lipomas, Hypertonia, Hemip...	ORPHA:2396
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Gait ataxia, Titubation	ORPHA:98771
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ...	OMIM:269700
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Lipodystrophy, Abnormal subcutaneous fat tissue distribution, Abnormal circulati...	ORPHA:357074
Sandhoff Disease	Kyphosis, Ataxia	ORPHA:796
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2429
Japanese Encephalitis	Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res...	ORPHA:79139
Squalene Synthase Deficiency	Optic nerve hypoplasia, Increased circulating farnesol concentration, Bilateral cryptorchidism, E...	OMIM:618156
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ...	OMIM:615558
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Umbilical hernia, Lipoatrophy, Shagreen patch	ORPHA:2963
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Excessive insulin response to glu...	ORPHA:324575
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy	OMIM:617892
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Upper limb dysmetria, Limb dysmetria, ...	OMIM:614409
Peroxisome Biogenesis Disorder 3B	Ataxia, Elevated circulating phytanic acid concentration, Hypotonia, Steatorrhea, Generalized hyp...	OMIM:266510
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Impaired ...	OMIM:162400
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,...	ORPHA:320375
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa...	ORPHA:168563
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global brai...	ORPHA:478029
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy	OMIM:616811
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain sensation, Babinski...	OMIM:608703
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Extrapyramidal muscular rigidity, Axial hypotonia, Dyst...	ORPHA:51
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Peripheral axonal neuropathy, Dysplastic corpus callosum, Hypotonia, Hydrocele testis, Hypocholes...	OMIM:618810
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607831
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lipodystrophy, Elevated circulating C-reactive protein concentration	OMIM:617099
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Gait disturbance	OMIM:614898
Baralle-Macken Syndrome	Inability to walk, Kyphosis, Global brain atrophy	OMIM:619255
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Spastic tetraparesis, Decreased serum leptin, Flexion contractur...	OMIM:614098
Spastic Paraplegia 31, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Distal sensory impairment, Ankle clonus...	OMIM:610250
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
De Barsy Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, Athetosis, Progressive cerebellar ataxia, Infanti...	ORPHA:2962
Keppen-Lubinsky Syndrome	Decreased testicular size, Lipodystrophy, Spastic tetraparesis, Flexion contracture, Opisthotonus...	ORPHA:435628
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat, Hypotonia, General...	OMIM:616914
Amyotrophic Lateral Sclerosis 8	Loss of ambulation, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608627
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Congenital Disorder Of Glycosylation, Type Ia	Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal subcutaneous fat tissue distribution, Fl...	OMIM:212065
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia, Spastic tetraparesis, Elevated urinary S-sulfocysteine level, Spastic tetraplegia, ...	OMIM:252150
Graft Versus Host Disease	Fasciitis, Lipodystrophy, Dupuytren contracture, Hyperbilirubinemia	ORPHA:39812
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atrophy, Choreoathetosis, Glob...	OMIM:278800
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Multiple Sulfatase Deficiency	Ataxia, Neonatal hypotonia, CNS demyelination, Spasticity, Peripheral demyelination	OMIM:272200
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Severe demyelination of the whit...	ORPHA:79282
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia, Spastic tetraplegia, Hypotonia, Opisthotonus, Increased urinary taurine, Axonal los...	OMIM:252160
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Abetalipoproteinemia	Impaired vibratory sensation, Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, ...	ORPHA:14
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Tip-toe gait, Scolio...	OMIM:606612
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Cryptorchidism, Delayed myelination, ...	ORPHA:79324
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
East Syndrome	Peripheral axonal neuropathy, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Periphe...	ORPHA:199343
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Myopathy, Centronuclear, 2	Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:255200
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat...	OMIM:606070
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera...	ORPHA:221091
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Ataxia, Kyphosis, Atrophy/Degeneration affecting the brainstem, Dysmetria, Ga...	ORPHA:88644
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Proteasome-Associated Autoinflammatory Syndrome 4	Panniculitis, Flexion contracture, Generalized lipodystrophy	OMIM:619183
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal...	OMIM:607155
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Winchester Syndrome	Kyphosis	OMIM:277950
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Delayed puberty, Decreased LDL cholesterol concentration...	OMIM:616834
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells...	ORPHA:97279
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Abnormal posturing, Gait disturbance, Titubation	ORPHA:225147
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Kyphosis, Cerebral atrophy, Gait ataxia	ORPHA:500180
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Widening of cervical spinal canal	OMIM:253310
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Unsteady...	OMIM:618733
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Type I diab...	ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypog...	ORPHA:276608
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Abnormality of the vertebral spinous processes, Ataxia, Op...	ORPHA:909
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Hypoketotic...	ORPHA:276575
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Lipodystrophy	ORPHA:300751
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Hypsarrhythmia, EEG abnormality, Hy...	OMIM:619475
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Optic atrophy	OMIM:618237
Pelizaeus-Merzbacher Disease	Ataxia, Kyphosis, Optic atrophy, Choreoathetosis, Gait disturbance, Scoliosis, Cerebral cortical ...	ORPHA:702
Alg9-Cdg	Omphalocele, Lower limb spasticity, Torticollis, Lipodystrophy, Delayed myelination, Hypotonia, H...	ORPHA:79328
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Increased LDL chole...	OMIM:277460
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Lipodystrophy, Camptodactyly of fi...	OMIM:256040
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	ORPHA:99949
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Cerebellar cortical at...	OMIM:248800
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, EEG abnormality, Increased circul...	ORPHA:1227
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor	ORPHA:363618
Retinitis Pigmentosa	Optic atrophy, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes mellit...	ORPHA:791
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy	OMIM:615911
Mitochondrial Dna-Associated Leigh Syndrome	Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Low plasma citrulline...	ORPHA:255210
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Peho Syndrome	Severe muscular hypotonia, Optic atrophy, Hypsarrhythmia, Myoclonus, Generalized hypotonia, Perip...	OMIM:260565
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Dystonia, Ataxia, Hypoglycemia, Tremor, Partial agenesis of the corpus callosum,...	OMIM:220111
Atypical Rett Syndrome	Kyphosis, Inability to walk, Gait ataxia, Gait disturbance, Scoliosis, Loss of ambulation	ORPHA:3095
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, Hypermyelinated reti...	OMIM:601812
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, EEG with generalized epileptiform discharges, As...	ORPHA:35878
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Tenorio Syndrome	Cerebral palsy, Hypoglycemia, Hypotonia, Clumsiness, Gait disturbance, Hypoinsulinemia	OMIM:616260
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Cerebral atrophy	OMIM:614857
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Metatropic Dysplasia	Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ...	OMIM:156530
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia	OMIM:614116
Chylomicron Retention Disease	Hypertriglyceridemia, Impaired proprioception, Steatorrhea, Hypocholesterolemia	ORPHA:71
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegi...	ORPHA:171436
Perlman Syndrome	Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Hypotonia	ORPHA:2849
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria	OMIM:606528
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Tremor, Hypertonia, Leukodystrophy, Agenes...	ORPHA:3455
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Flynn-Aird Syndrome	Kyphosis, Ataxia, Cerebral cortical atrophy, Scoliosis	ORPHA:2047
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal peripheral myelination, Ab...	OMIM:216400
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:181405
Hypomelanosis Of Ito	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Type II diabetes mellitus, Kelo...	ORPHA:3085
Rett Syndrome	Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Cerebral cortical atrophy	OMIM:312750
Jaberi-Elahi Syndrome	Broad-based gait, Kyphosis, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Choreoathet...	OMIM:617988
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Hypo...	OMIM:201300
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypogonadotropic hypogon...	ORPHA:298
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Hypomagnesemia, Hypotonia, Dysdiadochokinesis, Hyperaldosteronism, Peripheral hypomyelina...	OMIM:612780
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae	ORPHA:2522
Atypical Werner Syndrome	Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Abnormal circulating leptin concentration, ...	ORPHA:79474
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy	OMIM:619797
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Wrinkly Skin Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, Slurred speech, Progressive cerebellar ataxia, Hi...	ORPHA:2834
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Sudanophilic leukodystrop...	OMIM:264090
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Sandifer Syndrome	Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy	ORPHA:324737
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Kyphosis	OMIM:615084
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ...	ORPHA:99956
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis	ORPHA:536516
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct...	ORPHA:477817
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Barber-Say Syndrome	Cryptorchidism, Lipodystrophy	OMIM:209885
Tangier Disease	Peripheral axonal neuropathy, Hypertriglyceridemia, Impaired temperature sensation, Facial dipleg...	ORPHA:31150
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Spasticity, Babinski sign	OMIM:612069
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis	OMIM:300280
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy	ORPHA:79327
Sialidosis Type 2	Kyphosis, Ataxia	ORPHA:87876
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Generalized lipodystrophy, Gl...	OMIM:619127
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Ataxia, Abnormal peripheral myelination, Abnormal auditory e...	OMIM:133540
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Pain insensitivity, Broad-based gait, Ata...	OMIM:256810
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypotonia, Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glyc...	ORPHA:263455
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Multiple lipomas, Lipoatrophy	ORPHA:276280
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Wieacker-Wolff Syndrome, Female-Restricted	Facial palsy, Short neck, Inability to walk, Kyphosis, Scoliosis, Brain atrophy	OMIM:301041
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu...	ORPHA:2126
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Scoliosis, Short neck	ORPHA:75840
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea	OMIM:607765
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ...	OMIM:618443
Sialidosis Type 1	Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis	ORPHA:812
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Kyphosis, Gait imbalance, Scoliosis, Truncal ataxia, Cranial nerve motor loss	OMIM:211530
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory...	ORPHA:600
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dystonia, Loss of am...	ORPHA:2388
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas...	OMIM:246200
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Frontotemporal cerebral atrophy, Temporal cortical atroph...	ORPHA:100070
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:618484
Neonatal Marfan Syndrome	Decreased testicular size, Flexion contracture, Lipoatrophy, Hypotonia	ORPHA:284979
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Dubowitz Syndrome	Inguinal hernia, Cryptorchidism, Hypotonia, Generalized hypotonia, Hypocholesterolemia	OMIM:223370
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Optic atrophy, Platyspondyly, Neurodegeneration, Diff...	OMIM:618476
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Axial hypotonia, Hypotonia, Generalized hypotonia, Hypocholesterolemia	OMIM:244450
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis, Cerebellar vermis atrophy, Gait ataxia	OMIM:300354
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration	ORPHA:803
Basilar Impression, Primary	Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck	OMIM:109500
Galactokinase Deficiency	Speech apraxia, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level o...	ORPHA:79237
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis	OMIM:615834
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Scoliosis	ORPHA:352490
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy	OMIM:609242
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity	ORPHA:352447
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv...	OMIM:253010
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Schaaf-Yang Syndrome	Inability to walk, Kyphosis, Scoliosis	OMIM:615547
Pmm2-Cdg	Multiple joint contractures, Lipodystrophy, Axial hypotonia, Ataxia, Abnormality of coordination,...	ORPHA:79318
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive...	ORPHA:2821
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Kyphosis, Global brain atrophy, Short neck	OMIM:608776
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Kyphosis, Scoliosis, Spina bifida occulta, Cerebral cortical atrophy	OMIM:618291
Cockayne Syndrome Type 2	Ataxia, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis	ORPHA:90322
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Hypotonia	ORPHA:369873
Wieacker-Wolff Syndrome	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Scoliosis	OMIM:314580
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity	ORPHA:139536
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Scoliosis	OMIM:618493
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Spinal canal stenosis, Ce...	ORPHA:1320
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci...	ORPHA:769
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:2311
Gm1 Gangliosidosis	Ataxia, Hyperlordosis, Kyphosis, Unsteady gait, Optic atrophy, Abnormal form of the vertebral bod...	ORPHA:354
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria	OMIM:619708
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Abnormal circulating leptin concentration, Insulin...	ORPHA:2298
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ectasia, Syring...	ORPHA:2789
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Diastrophic Dysplasia	Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies	ORPHA:628
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:3191
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Smith-Lemli-Opitz Syndrome	Precocious puberty, Cryptorchidism, Partial agenesis of the corpus callosum, Hypotonia, Colpoceph...	OMIM:270400
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis	OMIM:620351
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Cerebral degeneration, Beaking of ...	OMIM:230500
Bohring-Opitz Syndrome	Delayed peripheral myelination, Flexion contracture, Hypotonia, Camptodactyly, Agenesis of corpus...	OMIM:605039
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Trisomy 20P	Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation...	ORPHA:261318
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Facial palsy, Scoliosis	OMIM:617143
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Corneal scarring	OMIM:256800
Lateral Meningocele Syndrome	Vertebral fusion, Tethered cord, Short neck, Kyphosis, Dural ectasia, Syringomyelia, Scoliosis, B...	OMIM:130720
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Facial palsy, Scoliosis, Spinal rigidity	OMIM:254090
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Kyphosis, Prominent protruding coccyx, Pro...	OMIM:300966
Postencephalitic Parkinsonism	Kyphosis, Camptocormia, Akinesia	ORPHA:97349
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Diabetes insipidus...	ORPHA:300373
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Neurodegeneration, Cervical cord compression	OMIM:309900
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Harrod Syndrome	Kyphosis, Cerebral cortical atrophy, Scoliosis	ORPHA:2115
Coffin-Lowry Syndrome	Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis, Cere...	ORPHA:192
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Arthrogryposis, Distal, Type 4	Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Decreased number of large peripheral myelinated nerve fibers, Elevated circulatin...	OMIM:223900
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Urban-Rogers-Meyer Syndrome	Kyphosis, Short neck	ORPHA:3409
Trisomy 13	Kyphosis, Optic atrophy, Scoliosis	ORPHA:3378
X-Linked Intellectual Disability, Cabezas Type	Kyphosis, Broad-based gait, Scoliosis, Short neck	ORPHA:85293
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic atrophy, Gait disturbance, Scoliosis	ORPHA:261349
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2479
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
3C Syndrome	Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis	ORPHA:7
Triosephosphate Isomerase Deficiency	Kyphosis, Unsteady gait, Optic disc pallor, Cerebral atrophy	OMIM:615512
Emanuel Syndrome	Kyphosis, Sacral dimple, Scoliosis, Cerebral atrophy	OMIM:609029
Alexander Disease	Ataxia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Gait disturbance, Scoliosis	ORPHA:58
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Delayed pube...	ORPHA:3464
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis, Cerebral cortical atrophy	OMIM:617011
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
15Q24 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:94065
Vici Syndrome	Abnormal posturing	OMIM:242840
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Kyphosis, Cerebral atrophy	OMIM:619244
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Leprechaunism	Reduced subcutaneous adipose tissue, Axial hypotonia, Insulin resistance, Hyperinsulinemia, Centr...	ORPHA:508
Micro Syndrome	Kyphosis, Optic atrophy, Cerebral cortical atrophy, Scoliosis	ORPHA:2510
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Gait disturbance, Scoliosis	ORPHA:500055
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Kyphosis, Cerebral atrophy, Difficulty walking, Scoliosis	ORPHA:464738
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hypotonia, Hyper...	ORPHA:230
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica...	ORPHA:1724
19P13.12 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:254346
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ...	OMIM:607014
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis	OMIM:617190
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Scoliosis	OMIM:617061
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Scoliosis	ORPHA:364028
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:616449
Rett Syndrome, Congenital Variant	Kyphosis, Athetosis, Scoliosis	OMIM:613454
Marden-Walker Syndrome	Kyphosis, Scoliosis, Short neck	OMIM:248700
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Scoliosis, Gait ataxia	ORPHA:476126
Distal Triplication 15Q	Kyphosis, Syringomyelia, Scoliosis	ORPHA:314588
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Impaired pa...	OMIM:176270
Camurati-Engelmann Disease	Waddling gait, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the v...	ORPHA:1328
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Microphthalmia, Lenz Type	Kyphosis, Optic disc coloboma, Scoliosis, Hyperlordosis	ORPHA:568
Mucopolysaccharidosis Type 6	Kyphosis, Ovoid vertebral bodies, Short neck	ORPHA:583
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Koolen-De Vries Syndrome	Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis	ORPHA:96169
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio...	OMIM:265000
Steinert Myotonic Dystrophy	Peripheral axonal neuropathy, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respon...	ORPHA:273
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Ganglioneuroma	OMIM:162300
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Tip-toe gait, Scoliosis	OMIM:618050
Pycnodysostosis	Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	ORPHA:763
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical spine, Cere...	ORPHA:464311
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis	OMIM:301040
Hurler-Scheie Syndrome	Kyphosis, Scoliosis	OMIM:607015
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking, Cerebral cortica...	ORPHA:457359
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Ataxia, Kyphosis, Optic atrophy, Abnormal form of the vertebral bod...	ORPHA:280
16Q24.3 Microdeletion Syndrome	Kyphosis, Optic nerve hypoplasia, Scoliosis	ORPHA:261250
Marshall-Smith Syndrome	Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the odontoid process, K...	OMIM:602535
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
2Q31.1 Microdeletion Syndrome	Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis, Cerebral cor...	ORPHA:251014
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Scoliosis	OMIM:619951
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:219090
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical spine, Cere...	ORPHA:464306
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s...	ORPHA:800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Unsteady gait, Difficulty walking, Bra...	ORPHA:90324
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis	OMIM:610443
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en...	OMIM:143095
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Scoliosis	ORPHA:2215
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Atelis Syndrome 2	Kyphosis, Sacral dimple, Dysmetria	OMIM:620185
Cockayne Syndrome	Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Kyphosis, Inability ...	ORPHA:191
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Cohen Syndrome	Kyphosis, Optic atrophy, Scoliosis	ORPHA:193
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Optic atrophy, Cerebral cortical atrophy	OMIM:617527
Mgat2-Cdg	Kyphosis, Brain atrophy, Scoliosis	ORPHA:79329
Noonan Syndrome 14	Kyphosis, Short neck	OMIM:619745
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Scoliosis	OMIM:617602
X-Linked Intellectual Disability, Snyder Type	Inability to walk, Kyphosis, Unsteady gait, Kyphoscoliosis	ORPHA:3063
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Optic atrophy, Cerebellar cortical atrophy	ORPHA:521426
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Hypotonia, Delayed peripheral myelination	ORPHA:364577
Osteogenesis Imperfecta	Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebr...	ORPHA:666
Cowden Syndrome 1	Kyphosis, Scoliosis	OMIM:158350
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Cerebral cortical...	ORPHA:268261
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis	ORPHA:536532
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasia, Scoliosis, Sp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasia, Scoliosis, Sp...	ORPHA:363958
Spondyloenchondrodysplasia	Kyphosis, Platyspondyly	ORPHA:1855
Weaver Syndrome	Kyphosis, Scoliosis	OMIM:277590
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte...	ORPHA:955
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Scoliosis, Short neck	OMIM:616894
Cleidocranial Dysplasia 1	Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Scoliosis	ORPHA:398069
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis	ORPHA:394
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Ramon Syndrome	Kyphosis, Optic disc pallor, Scoliosis	OMIM:266270
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Frank-Ter Haar Syndrome	Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Mucolipidosis Type Ii	Inability to walk, Kyphosis	ORPHA:576
Monosomy 9Q22.3	Kyphosis, Abnormality of the vertebral column, Short neck	ORPHA:77301
Cdags Syndrome	Kyphosis	OMIM:603116
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Aspartylglucosaminuria	Kyphosis, Cerebral atrophy, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies,...	OMIM:208400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Kyphoscoliosis, Ataxia, Scoliosis	OMIM:300967
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Scoliosis	OMIM:619005
Neurofibromatosis Type 1	Ataxia, Kyphosis, Pheochromocytoma, Scoliosis, Plexiform neurofibroma, Spinal neurofibroma	ORPHA:636
Cerebrocostomandibular Syndrome	Kyphosis, Spina bifida	ORPHA:1393
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Poland Syndrome	Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta	ORPHA:2911
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Kyphosis, Schwannoma, Dural ectasia, Glomus jugular tumor, Abnormality...	ORPHA:97685
1P36 Deletion Syndrome	Kyphosis, Optic atrophy, Spinal canal stenosis, Gait disturbance, Scoliosis, Cerebral cortical at...	ORPHA:1606
Smith-Lemli-Opitz Syndrome	Short neck, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:818
Cowden Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:201
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Scoliosis, Short neck	OMIM:619194
Marden-Walker Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Marfan Syndrome	Kyphosis, Dural ectasia, Scoliosis, Spondylolisthesis	ORPHA:558
Williams Syndrome	Sacral dimple, Ataxia, Hyperlordosis, Atrophy/Degeneration involving the corticospinal tracts, Ky...	ORPHA:904
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99413
Turner Syndrome	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:881
Mosaic Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99226
Zttk Syndrome	Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis	OMIM:617140
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Facial palsy, Scoliosis	ORPHA:2658
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Platyspondyly, Abnormality of the vertebral column, Subcortical cerebral atrophy, Cereb...	ORPHA:2273
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Tethered cord, Kyphosis, Abnormal form of the vertebral bodies, ...	OMIM:194190
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Oculocerebrorenal Syndrome Of Lowe	Kyphosis, Platyspondyly, Scoliosis	ORPHA:534
Coffin-Siris Syndrome 1	Sacral dimple, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta	OMIM:135900
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Mend Syndrome	Kyphosis, Sacral dimple	ORPHA:401973
Mend Syndrome	Kyphosis, Sacral dimple	OMIM:300960
Stickler Syndrome	Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:828
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Primrose Syndrome	Ataxia, Kyphosis, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Neurod...	OMIM:259050
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Scoliosis	OMIM:309000
Acromegaly	Kyphosis, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Spinal canal stenosis	ORPHA:314769
Proteus Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:744
Wrinkly Skin Syndrome	Kyphosis, Scoliosis	OMIM:278250
Branchiooculofacial Syndrome	Hyperlordosis, Kyphosis, Facial palsy, Short neck	OMIM:113620
Sotos Syndrome	Sacrococcygeal teratoma, Kyphosis, Cerebral atrophy, Scoliosis, Abnormal vertebral morphology	ORPHA:821
Viss Syndrome	Kyphosis, Butterfly vertebrae, Scoliosis	OMIM:619472
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340

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 Reep1

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 Reep1.

No publications found that use IMPC mice or data for Reep1.

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MGI Allele	Allele Type	Produced
Reep1^{tm47696(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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