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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Reep1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Spastic Paraplegia Type 31
Difficulty walking, Gait disturbance, Hypertonia, Spastic tetraparesis, Spastic gait, Distal sens... ORPHA:101011
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Lower limb spasticity, Spastic gait, Distal sensory impairment,... OMIM:610250
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Scoliosis, Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin ... OMIM:606721
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Peripheral axonal neuropathy, Optic atrophy, Optic disc ... OMIM:617087
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Periphe... OMIM:614436
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Peripheral demyelination, Fatiguable weakness of proximal limb muscl... ORPHA:2932
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal la... OMIM:601596
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Difficulty walking, Abnormal lower motor neuron morphology, Waddling gait OMIM:611067
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Reduced intra... ORPHA:363400
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyp... OMIM:608600
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Axonal degeneration, Degeneration of anterior horn cells, Decreased number of p... OMIM:604484
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Axonal loss, Abno... OMIM:221770
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Redu... OMIM:612526
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Peripheral hypomyelinat... OMIM:611228
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait OMIM:611637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Sensory ataxia, Vocal cord paresis, Basal lamina onion... OMIM:614895
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Peripheral axonal neur... OMIM:610743
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypoplasia of the corpus callosum, Hypertonia, Slurred speech, Toe walking, Tetrapare... ORPHA:2386
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Scoliosis, Dystonia, Abnormal anterior horn cell morphology, Facial diplegia, ... OMIM:611890
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... OMIM:617672
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Generalized hypotonia, Abnormal periventricular white matter morphology, Decreased n... OMIM:249900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Gait ataxia, Gait disturbance, Kyphosis, Ataxia, Abnormal sensory nerve conduction vel... ORPHA:88628
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance ORPHA:247604
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Abnormal circulating lipid concentration OMIM:615238
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Decrea... OMIM:208920
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired tactile sensati... ORPHA:99953
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbance, Toe walking, Dec... OMIM:302800
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Positive Romberg sign, Gait ataxia, Peripheral demyelination, Joint contracture of the hand, Dist... OMIM:258650
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus OMIM:613877
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Adult Krabbe Disease
Hemiplegia, Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Impaired t... ORPHA:206448
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Hypertrophic Neuropathy Of Dejerine-Sottas
Sensory ataxia, Decreased motor nerve conduction velocity, Generalized hypotonia, Decreased numbe... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neur... OMIM:615490
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Clonus, Difficulty walking, Hypoplasia of the corpus callosum, Onion bulb for... OMIM:615035
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Cerebral atrophy, Neurodegeneration, Ataxia, Bradykinesia, Cerebell... OMIM:615157
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Am... OMIM:205100
Mitochondrial Dna Depletion Syndrome 18
Scoliosis, Falls, Axonal degeneration OMIM:618811
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Periph... ORPHA:497764
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination, Onion bulb formation, Distal sensory impairment, Axonal degen... OMIM:606483
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased number of peripher... OMIM:118200
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Increased adipose tissu... ORPHA:435660
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Torsion dystonia, Abnormal posturing, Kyphosis, Blepharospasm, Writer's... OMIM:128100
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Hypoch... OMIM:256840
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Gait disturbance, Kyphosis OMIM:611225
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral hypomyelination, ... OMIM:604168
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Difficulty walking, Steppage gait, Frequent falls, Onion bulb formation OMIM:618279
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro... OMIM:613913
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Ataxia ORPHA:101075
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Pe... OMIM:605285
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, CNS demyelination, Peripheral demyelination, Optic atrophy OMIM:165200
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Generalized hypotonia, Dysesthesia, Onion bulb formation, Unsteady gait, Acute demyelinating poly... ORPHA:98916
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Axonal regeneration, Distal sensory impairment, Onion bulb formation OMIM:615185
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Posterior Column Ataxia With Retinitis Pigmentosa
Positive Romberg sign, Sensory ataxia, Decreased sensory nerve conduction velocity, Flexion contr... OMIM:609033
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Enlarged peripheral nerve, Hyperinsulinemia, ... OMIM:151660
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Hypertriglyceridemia,... ORPHA:435651
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, C... OMIM:606353
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Distal sensory impairment, Decreased number of la... OMIM:608340
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Distal sensory impairment, Onion bulb formation OMIM:616039
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Gait disturbance, Kyphosis, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, CNS demyelination, Decerebrate rigidity, EEG abn... OMIM:245200
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90159
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Kyphosis, Cerebral atrophy, Ataxia, Lumbar hyperlordosis,... OMIM:616756
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Flexion contracture, Decreased num... OMIM:607706
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Generalized hypotonia, Flexion contracture, Spastic tetraplegia, Peripheral demyelinati... OMIM:618237
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Lipoatrophy ORPHA:154
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Ddost-Cdg
Oromotor apraxia, Tremor, Generalized hypotonia, Lipodystrophy, Primary hypothyroidism, CNS hypom... ORPHA:300536
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Axonal regeneration, Distal sensory impairment, Decreased number of peripheral mye... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:607677
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... OMIM:610100
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis OMIM:619099
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Gait disturbance, Onion bulb formation, Distal sensory impairment, Optic atrophy, Segmental perip... OMIM:311070
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Gait disturbance, Distal sensory impairment, Decreased nerve conduction... ORPHA:99944
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Gait disturbance, Peripheral axonal neuropathy OMIM:263570
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukodystrophy, Dystonia, Postural tremor, Hypoplasia of the corpus callosum, Ataxia, Abnormal up... OMIM:607694
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Cimdag Syndrome
Dystonia, Hypotonia, Chorea, Cerebral atrophy, Lipodystrophy, Ataxia, Hypogonadism, Primary micro... OMIM:619273
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, CNS demyelination, Hypermethioninemia, Peripheral demyelination OMIM:250850
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:98855
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, H... ORPHA:528
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Hypertonia, Lipoatrophy, EEG abnormality, Microcephaly ORPHA:2617
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:98863
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypoplasia of the corpus callosum, Hypothyroidism, Cerebral atrophy, Lipodyst... OMIM:618922
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:98853
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Cranial nerve ... ORPHA:52430
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Lipoatrophy, Abnormal circulating lipid concentration, Lipodystrophy, Type I... ORPHA:1979
Spinocerebellar Ataxia Type 25
Gait ataxia, Progressive cerebellar ataxia, Decreased number of large peripheral myelinated nerve... ORPHA:101111
Coenzyme Q10 Deficiency, Primary, 8
Generalized hypotonia, Elevated circulating creatinine concentration, Flexion contracture, Periph... OMIM:616733
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Flexion contracture, Hypertriglyceridemia, Hypogonadism, Diabe... OMIM:615381
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Neuronal loss in the cerebral... ORPHA:275872
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation OMIM:147530
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Atrophy of the spinal cord, Abnormal upper motor neuron morphology,... ORPHA:35689
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipodystrophy, Lipoatrophy, Hypertriglyceridemia, Diabetes mellit... ORPHA:2348
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Abnormal periventricular white matter morphology, Hypoplasia of the corpus ca... OMIM:604360
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination OMIM:607736
Metachromatic Leukodystrophy
Dystonia, Generalized hypotonia, Peripheral demyelination, Chorea, Abnormal cerebral white matter... OMIM:250100
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Ataxia, Optic atrophy ORPHA:99014
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy ORPHA:50811
Spinocerebellar Ataxia 25
Abolished vibration sense, Decreased number of peripheral myelinated nerve fibers, Ataxia, Babins... OMIM:608703
Ane Syndrome
Abnormal response to ACTH stimulation test, Hypogonadotropic hypogonadism, Adrenocorticotropin de... ORPHA:157954
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Hypergonadotropic hypogonadism, Head tremor, Tor... OMIM:613724
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... OMIM:608673
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Galloway-Mowat Syndrome 5
Pachygyria, Ataxia, Peripheral demyelination, Microcephaly, Spasticity OMIM:617731
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Scoliosis, Difficulty walking, Abnormal lower motor neuron morphology, Waddlin... ORPHA:2590
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... OMIM:248370
Familial Multiple Lipomatosis
Insulin resistance, Hypoplasia of the corpus callosum, Lipodystrophy, Cerebral calcification, Inc... ORPHA:199276
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Paraplegia, Myelitis, Peripheral demyelination ORPHA:71211
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Distal ... OMIM:601455
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... OMIM:270550
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... OMIM:607791
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Dystonia, Kyphosis, Anterior beaking of lumbar vertebrae, Diffuse cereb... OMIM:230650
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dystonia, Kyphosis, Cerebral atrophy, Bradykinesia, Unsteady gait, Cerebellar atrophy,... OMIM:617435
Autosomal Dominant Spastic Paraplegia Type 31
Difficulty walking, Gait disturbance, Hypertonia, Spastic tetraparesis, Spastic gait, Distal sens... ORPHA:101011
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Achilles tendon contracture, Spastic ... OMIM:607225
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Neonatal hypotonia,... OMIM:605253
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Insulin resistanc... ORPHA:280365
Brachyolmia Type 1, Toledo Type
Gait disturbance, Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Kypho... OMIM:271630
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Mixed demyelinating and axonal polyneuropathy, Flexion contracture of fi... ORPHA:101085
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Optic disc pallor, Generali... ORPHA:216866
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90158
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Hypertonia, Toe walking, Upper motor neuron dysfunction, Mixed demyelina... ORPHA:466768
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Generalized hypotonia, Hypoglycemia, Ataxia, Peripheral demyelination, Hyperglycemia, CNS... OMIM:220111
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Waddling gait OMIM:618392
Stiff Skin Syndrome
Lipoatrophy, Abnormal circulating lipid concentration, Type II diabetes mellitus, Impaired pain s... ORPHA:2833
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Puberty and gonadal disorders, Cerebral white matter atrophy, Difficulty walking, Hypop... ORPHA:464282
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis OMIM:613954
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy OMIM:618453
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion contracture, Hypotonia ORPHA:75496
Glutaric Acidemia I
Dystonia, Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, Genera... OMIM:231670
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Keppen-Lubinsky Syndrome
Hypertonia, Flexion contracture, Spastic tetraparesis, Absence of subcutaneous fat, Microcephaly,... OMIM:614098
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... OMIM:271530
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus ORPHA:71529
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Primary Lipodystrophy
Insulin resistance, Lipodystrophy, Lipoatrophy, Type II diabetes mellitus, Hyperlipidemia ORPHA:90970
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Lipoatrophy, Hypotonia ORPHA:261304
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Corpus callosum atrophy, Difficulty walking, Hypoplasia o... ORPHA:171629
Short Syndrome
Glucose intolerance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Peripheral axonal degeneration OMIM:162100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic paraparesis, Peripheral demyelination, Neonatal hypotonia, Peripheral hypomyelination, De... OMIM:609136
Rapidly Involuting Congenital Hemangioma
Lipoatrophy ORPHA:141184
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Lipodystrophy OMIM:212112
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Amyotrophic lateral sclerosis, Axonal loss, Athetosis OMIM:300857
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... OMIM:604320
Progressive Non-Fluent Aphasia
Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Abnormal cerebr... ORPHA:100070
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
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism, Impaired ... OMIM:607080
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Generalized lipodystrophy, Congenital generalized lipodystrophy OMIM:608154
Congenital Short Bowel Syndrome
Lipoatrophy ORPHA:2301
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity ORPHA:85288
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Lipodystrophy, R... OMIM:270450
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Gait disturbance, Kyphosis, Ataxia, Cerebellar atrophy ORPHA:85317
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atrophy, Axonal degen... OMIM:616811
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Short neck OMIM:300718
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Generalized hypotonia... ORPHA:1145
Potocki-Lupski Syndrome
Delayed myelination, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypothyroidism, Hy... OMIM:610883
Cutis Laxa, Autosomal Recessive, Type Iia
Pachygyria, Generalized hypotonia, Lipodystrophy, Polymicrogyria, Inguinal hernia, Microcephaly, ... OMIM:219200
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Cerebral cortical atrophy, Cereb... ORPHA:157941
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Difficulty walking, Decreased number of peripheral ... ORPHA:320406
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Toe walking, Spastic diplegia, Head titubation, Upper limb ... ORPHA:300605
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Lipoatrophy, Hyperuricemia, Insulin-resistant diabetes mel... ORPHA:79083
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia, Unsteady gait, Cerebellar atrophy OMIM:300861
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, G... OMIM:218000
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Leukodystrophy, Corpus callosum atrophy, Symmetric peripheral demyelinati... OMIM:169500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Temporal cortical atrophy, Frontal cortical atrophy, Gait disturbance, Back pain, Amyot... OMIM:167320
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Hiatus hernia, Impaired vibratory sensation, Gait disturbance, Abnormal upper... OMIM:601162
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Absent septum pellucidum, Hypertonia, Cerebral atrophy, Lipodystrophy, Hemiparesis, P... ORPHA:2396
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormality of extrapyramidal... ORPHA:79139
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Lipodystrophy, Flexion contracture, Hypertriglyceridemia, E... OMIM:613327
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Onion bulb formation, Distal sensory impairment, Decreased nerve conduction vel... OMIM:615284
Acrogeria
Lipoatrophy ORPHA:2500
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Hypoalbuminemia, Increased alpha-globulin, ... ORPHA:86816
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis ORPHA:1875
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Masa Syndrome
Hyperlordosis, Kyphosis, Shuffling gait OMIM:303350
Aicardi-Goutières Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Hypertonia, Cerebral calcification, Spast... ORPHA:51
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Pachygyria, Thick cerebral cortex, Abnormal subcutaneous fat tissue distribution, Lipodystrophy, ... ORPHA:357074
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Motor axonal neuropathy, Kyphosis, Ataxia, Cerebral cortical atrophy, Dysmetria, Abnor... ORPHA:48431
Cushing Disease
Lethargy, Lipodystrophy, Hypokalemia, Diabetes mellitus, Adrenal hyperplasia, Pituitary adenoma ORPHA:96253
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... OMIM:105550
Poems Syndrome
Paresthesia, Primary adrenal insufficiency, Hypothyroidism, Lipodystrophy, Papilledema, Increased... ORPHA:2905
Abetalipoproteinemia
Abetalipoproteinemia, CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276244
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Idiopathic Juvenile Osteoporosis
Gait disturbance, Vertebral compression fracture, Kyphosis ORPHA:85193
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hyperactivity OMIM:300434
Autosomal Recessive Spastic Paraplegia Type 55
Arthrogryposis multiplex congenita, Decreased sensory nerve conduction velocity, Spastic parapare... ORPHA:320375
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Abetalipoproteinemia, Chaddock reflex, Ataxia, Hypocholesterolemia,... ORPHA:96180
Adrenomyeloneuropathy
Atrophy/Degeneration involving the corticospinal tracts, Back pain, Atrophy of the spinal cord, S... ORPHA:139399
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypoplasia of the corpus callosum, Hypoch... OMIM:618156
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Leukodystrophy, Decreased motor nerve conduction velocity, Cerebral white matt... OMIM:610532
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia, Spasticity OMIM:240800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty, Dorsocervical fat pad, Microce... OMIM:616033
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Lack of facial subcutaneous fat, Absence of sub... ORPHA:90156
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes m... ORPHA:3163
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Decreased amplitude of sensory action potentials, Impaired vibration sensation at an... ORPHA:90103
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing OMIM:304700
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Abnormal circulating lipid concentration, Ins... ORPHA:79086
Chylomicron Retention Disease
Impaired vibratory sensation, Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LD... OMIM:246700
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary taurine, Hypouricemia, Hypoplasia of the corpus callosum, Axonal loss, Cerebral... OMIM:252160
Fucosidosis
Hypothyroidism, Lipoatrophy, Abnormal pyramidal sign, Spasticity, Spastic tetraplegia, Hypotonia ORPHA:349
Tangier Disease
Impaired pain sensation, Peripheral demyelination, Impaired temperature sensation, Peripheral axo... OMIM:205400
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abn... ORPHA:79299
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Lower limb spasticity, Spastic gait, Distal sensory impairment,... OMIM:610250
Ruijs-Aalfs Syndrome
Lipodystrophy, Elbow flexion contracture OMIM:616200
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Scoliosis, Kyphosis, Cerebral atrophy, Ataxia, Unsteady gait OMIM:618443
H Syndrome
Azoospermia, Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Delayed puberty, Hernia, Hypogon... ORPHA:168569
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:1133
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Difficulty walking, Kyphosis, Toe walking, Vertebral fusion, Cerebellar... OMIM:606612
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, U... OMIM:608594
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Facial diplegia, Spastic paraparesis, Difficulty walking, Hypoplasia of the co... ORPHA:254930
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Hypertriglyceridemia, Flexion contracture, Panniculitis OMIM:617591
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration OMIM:601812
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Limb dysmetria, Kyphosis, Cerebral atrophy, Spastic gait, Cerebellar atrophy, Upper li... OMIM:614409
Baralle-Macken Syndrome
Inability to walk, Dystonia, Kyphosis, Global brain atrophy OMIM:619255
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Axonal loss, Distal sensory impairment, Onion bulb formation OMIM:614455
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased n... ORPHA:101082
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, U... OMIM:269700
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Neonatal hypotonia, Cerebral atrophy, Ataxia, P... OMIM:272200
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Lewy bodies, At... OMIM:614298
Becker Nevus Syndrome
Lipoatrophy, Spina bifida occulta ORPHA:64755
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Decreased number of peripheral myelinated nerve fibe... OMIM:256850
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Molybdenum Cofactor Deficiency, Complementation Group A
Increased urinary taurine, Hypouricemia, Hypoplasia of the corpus callosum, Axonal loss, Cerebral... OMIM:252150
Spinocerebellar Ataxia Type 18
Gait ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Titubation, Dysmetria ORPHA:98771
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Shagreen patch, Umbilical hernia ORPHA:2963
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Gait disturbance, Kyphosis ORPHA:2429
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Dystonia, Kyphosis OMIM:614898
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Optic neuropathy, Axonal deg... ORPHA:478029
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Lethargy, Hype... ORPHA:324575
Congenital Disorder Of Glycosylation, Type Ia
Generalized hypotonia, Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutaneous fat ... OMIM:212065
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Peripheral demyelination, Cerebral atrophy, Atrophy of the spinal cord, Poor fine motor... ORPHA:79282
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy OMIM:614008
Jaberi-Elahi Syndrome
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Kyphosis, Cerebellar atrophy, Dysmetria, Opt... OMIM:617988
Cdkl5-Deficiency Disorder
Difficulty walking, Scoliosis, Gait disturbance, Kyphosis ORPHA:505652
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Panniculitis, Elevated circulating C-reactive protein concentration OMIM:617099
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis, Sensory axonal neuropathy, Motor axonal neuropathy, Optic atrophy, Optic dis... OMIM:609541
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Gait disturbance, Kyphosis, Chronic axonal neuropathy, Ataxia, Sensory axonal neuropat... ORPHA:88644
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Cerebral atrophy OMIM:614857
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Lipodystrophy, Lipoatrophy, Thyroid carcinoma, Type II dia... ORPHA:902
Cerebrotendinous Xanthomatosis
Dystonia, Global brain atrophy, Thoracic kyphosis, Gait disturbance, Ataxia, Myelopathy, Cerebell... ORPHA:909
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Basal ganglia calcification, Flexion contracture, Generalized lipodystrophy OMIM:619183
De Barsy Syndrome
Lipodystrophy, Umbilical hernia, Abnormal corpus callosum morphology, Progressive cerebellar atax... ORPHA:2962
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Streak ovary, Decreased serum testos... ORPHA:168563
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Titubation ORPHA:225147
Abetalipoproteinemia
Positive Romberg sign, Gait ataxia, Impaired vibratory sensation, Steppage gait, Hypotriglyceride... ORPHA:14
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Kyphosis, Cerebral atrophy, Hyperactivity ORPHA:500180
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis, Facial palsy, Waddling gait OMIM:255200
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Absence of subcutaneous fat, Dural ectasia, Reduced subcutaneous adipose tissue, Gen... OMIM:616914
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Caudal appendage, Peripheral axon... OMIM:156530
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Generalized hypotonia, Pain insensitivity, Ataxia, Painless fractures due to injury, De... OMIM:256810
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypotonia, Hypocholesterolemia, Dysplastic corpus callosum, Peripheral axonal neuropathy, Spasticity OMIM:618810
Bethlem Myopathy 2
Kyphosis OMIM:616471
Brachyolmia Type 3
Scoliosis, Platyspondyly, Kyphosis, Spinal cord compression, Short neck OMIM:113500
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Mental Retardation, Autosomal Dominant 57
Scoliosis, Kyphosis, Toe walking, Attention deficit hyperactivity disorder OMIM:618050
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Microcephaly, Delayed puberty, Hypocholesterolemia OMIM:616834
Graft Versus Host Disease
Lipodystrophy, Dupuytren contracture, Hyperbilirubinemia, Fasciitis ORPHA:39812
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Cerebral cortical atrophy, Kyphosis OMIM:618291
Peho Syndrome
Peripheral dysmyelination, Pachygyria, Generalized hypotonia, Hypsarrhythmia, Hypoplasia of the c... OMIM:260565
East Syndrome
Inability to walk, Difficulty walking, Peripheral hypomyelination, Increased circulating renin le... ORPHA:199343
Keppen-Lubinsky Syndrome
Congenital generalized lipodystrophy, Hypertonia, Lipodystrophy, Flexion contracture, Spastic tet... ORPHA:435628
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Scoliosis, Difficulty walking, Kyphosis, Toe walking, Vertebral fusion, Waddling gait OMIM:607155
Tenorio Syndrome
Cavum septum pellucidum, Clumsiness, Generalized hypotonia, Gait disturbance, Hypoglycemia, Hypoi... OMIM:616260
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Hyperactivity OMIM:300831
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Dystonia, Chorea,... ORPHA:255210
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Insulinoma
Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Paresthesia, Hyperinsulinemia, Neoplasm of the a... ORPHA:97279
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Charcot-Marie-Tooth Disease Type 4C
Sensory ataxia, Vocal cord paralysis, Impaired distal vibration sensation, Abnormal motor nerve c... ORPHA:99949
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Attention deficit hyperactivity disorder OMIM:617061
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Paucity of anterior horn motor neurons OMIM:253310
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture of finger, Adipose tissue loss, Flexion contracture,... OMIM:256040
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Limb dystonia ORPHA:319199
Trigeminal Neuralgia
Paresthesia, Cranial nerve compression, Somatic sensory dysfunction, Peripheral demyelination, CN... ORPHA:221091
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Gait disturbance, Kyphosis ORPHA:2181
Peroxisome Biogenesis Disorder 3B
Generalized hypotonia, Hypotonia, Steatorrhea, Hypocholesterolemia OMIM:266510
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Generalized hypotonia, Peripheral hypomyelinati... OMIM:618733
Sandifer Syndrome
Decreased cervical spine mobility, Torticollis, Abnormal posturing ORPHA:71272
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Pelizaeus-Merzbacher Disease
Scoliosis, Dystonia, Gait disturbance, Kyphosis, Ataxia, Cerebral cortical atrophy, Optic atrophy ORPHA:702
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Generalized hypotonia, Hypotonia, Hypertonia, Flexion contracture, Lipoatrophy, A... OMIM:264090
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Lethargy, Hyperinsu... ORPHA:276580
Cockayne Syndrome A
Peripheral dysmyelination, Tremor, Thymic hormone decreased, Atypical scarring of skin, Gait dist... OMIM:216400
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor ORPHA:363618
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Atypical Rett Syndrome
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Gait disturbance, Loss of ability to walk, K... ORPHA:3095
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketo... ORPHA:276608
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Kyphosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes OMIM:301900
Dk1-Cdg
Cerebral cortical atrophy, Lipoatrophy ORPHA:91131
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Paresthes... ORPHA:298
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Optic atrophy ORPHA:791
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Beaking of vertebral bodies, Kyphosis, Waddli... OMIM:607326
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar cortical atrophy OMIM:248800
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Shashi-Pena Syndrome
Scoliosis, Kyphosis OMIM:617190
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis, Torticollis, Facial palsy, Broad-based gait OMIM:181405
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical my... OMIM:183900
Rett Syndrome
Scoliosis, Dystonia, Gait ataxia, Truncal ataxia, Kyphosis, Cerebral cortical atrophy, Gait apraxia OMIM:312750
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Thoracolumbar scoliosis OMIM:313420
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Generalized hypotonia, Peripheral hypomyelination, Chronic axonal neuropathy,... OMIM:612780
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Distal sensory impairment... OMIM:162400
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Facial diplegia, Gait disturbance, Kyphosis, Spinal rigidity, Waddling ... ORPHA:171436
Cockayne Syndrome B
Peripheral dysmyelination, Tremor, Atypical scarring of skin, Cerebral atrophy, Reduced subcutane... OMIM:133540
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Neurodegeneration, Ataxia, Optic atrophy OMIM:618476
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Kyphosis, Back pain, Lumbar hyperlordosis, Spinal cord compression, Abn... ORPHA:94068
Wiedemann-Rautenstrauch Syndrome
Congenital generalized lipodystrophy, Hypertonia, Type II diabetes mellitus, Increased subcutaneo... ORPHA:3455
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Kyphosis, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:352490
Spinocerebellar Ataxia Type 13
Gait ataxia, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Cerebellar atrophy, Titu... ORPHA:98768
Hypomelanosis Of Ito
Scoliosis, Kyphosis, Cerebral atrophy OMIM:300337
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum OMIM:112350
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Torticollis, Spinal rigidity, Short neck ORPHA:75840
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Choreoacanthocytosis
Hypertonia, Head titubation, Decreased number of peripheral myelinated nerve fibers, Cerebral cor... ORPHA:2388
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Spinal cord compression, Short neck, Fused cervical vertebrae ORPHA:2522
Wrinkly Skin Syndrome
Thick cerebral cortex, Slurred speech, Lipodystrophy, Umbilical hernia, Progressive cerebellar at... ORPHA:2834
Srd5A3-Cdg
Kyphosis, Ataxia, Cerebellar atrophy, Optic atrophy, Abnormal sacrum morphology ORPHA:324737
Flynn-Aird Syndrome
Scoliosis, Cerebral cortical atrophy, Kyphosis, Ataxia ORPHA:2047
Metatropic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Kyphosis, Abnor... ORPHA:2635
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Hypotonia, Femoral hernia ORPHA:2849
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Gait disturbance, Kyphosis, Short neck, Hypoplasia of the odontoid process ORPHA:93314
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Stereotypy, Babinski sign, Amyotrophic lateral sclerosis, Spasticity OMIM:612069
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Impaired proprioception ORPHA:71
Sialidosis Type 1
Scoliosis, Abnormal form of the vertebral bodies, Gait disturbance, Kyphosis, Ataxia, Decreased n... ORPHA:812
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Generalized hypotonia, Painless fractures due to inj... OMIM:201300
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Facial palsy, Spinal deformities OMIM:615084
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Toe walking, Kyphoscoliosis ORPHA:536516
Pseudoachondroplasia
Scoliosis, Platyspondyly, Cervical cord compression, Beaking of vertebral bodies, Kyphosis, Lumba... OMIM:177170
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates OMIM:234250
Tangier Disease
Impaired temperature sensation, Hypocholesterolemia, Hypertriglyceridemia, Peripheral axonal neur... ORPHA:31150
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Keloids, Type II diabetes mellitus ORPHA:3085
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Mental Retardation, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
Uruguay Faciocardiomusculoskeletal Syndrome
Difficulty walking, Scoliosis, Kyphosis OMIM:300280
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central an... OMIM:313400
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Difficulty walking, Mildly elevated creatine kinase, Amyotrophic lateral scle... ORPHA:600
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Mandibuloacral Dysplasia Progeroid Syndrome
Generalized hypotonia, Glucose intolerance, Elevated hemoglobin A1c, Flexion contracture, Hypertr... OMIM:619127
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck ORPHA:178148
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Syringomyelia, Distal sensory impairment,... ORPHA:477817
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hyperins... ORPHA:276152
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Kaufman Oculocerebrofacial Syndrome
Generalized hypotonia, Hypoplasia of the corpus callosum, Muscular hypotonia of the trunk, Hypoch... OMIM:244450
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Multiple lipomas ORPHA:276280
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Gait ataxia, Cerebellar vermis atrophy, Hyperactivity OMIM:300354
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Scoliosis, Kyphosis, Brain atrophy, Facial palsy, Short neck OMIM:301041
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Dystonia, Kyphosis, Cerebral atrophy, Facial palsy, Short neck OMIM:314580
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Recurrent hypog... ORPHA:2126
Sialidosis Type 2
Kyphosis, Ataxia ORPHA:87876
Kanzaki Disease
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration OMIM:609242
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal... ORPHA:263455
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608627
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Hypergly... OMIM:246200
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis, Generalized dystonia ORPHA:79107
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Sacral dimple, Kyphosis OMIM:615761
Neuropathy, Hereditary Sensory, Type Ie
Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Basilar Impression, Primary
Syringomyelia, Short neck, Abnormal cervical myelogram, Kyphoscoliosis OMIM:109500
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Short neck, Kyphosis OMIM:252605
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Kyphosis OMIM:259440
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Speech apraxia, Hypergonadotropic hypogonadism, Increased... ORPHA:79237
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
X-Linked Dominant Chondrodysplasia Punctata
Kyphosis, Optic atrophy, Abnormal vertebral morphology ORPHA:35173
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Kyphosis, Ataxia, Facial palsy, Cranial nerve motor loss OMIM:211530
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Cerebellar atrophy, Spinal deformities ORPHA:352447
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis OMIM:618484
Mend Syndrome
Kyphosis, Hyperactivity OMIM:300960
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis OMIM:248760
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Cervical myelopathy, C... OMIM:253000
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Platyspondyly, Gait disturbance, Kyphosis, Spinal canal stenosis, Short... ORPHA:582
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Cervical myelopathy, C... OMIM:253010
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Bruck Syndrome 1
Scoliosis, Platyspondyly, Kyphosis, Vertebral wedging OMIM:259450
Schaaf-Yang Syndrome
Inability to walk, Scoliosis, Kyphosis OMIM:615547
Neonatal Marfan Syndrome
Flexion contracture, Lipoatrophy, Hypotonia ORPHA:284979
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Progressive spastic paraplegia, Demyelinating peripheral neuropathy, Basal lamina o... ORPHA:2821
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Cerebellar atrophy, Global brain atrophy OMIM:608776
Arthrogryposis, Distal, Type 4
Scoliosis, Torticollis, Lumbar scoliosis, Kyphosis OMIM:609128
Widow'S Peak Syndrome
Kyphosis OMIM:314570
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder ORPHA:369873
Cockayne Syndrome Type 2
Scoliosis, Difficulty walking, Gait disturbance, Kyphosis, Ataxia ORPHA:90322
Pmm2-Cdg
Elevated circulating growth hormone concentration, Delayed myelination, Hyperinsulinemia, Insulin... ORPHA:79318
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Hereditary Sensory And Autonomic Neuropathy Type 5
Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat... ORPHA:64752
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Ullrich Congenital Muscular Dystrophy 1
Scoliosis, Kyphosis, Torticollis, Spinal rigidity, Facial palsy OMIM:254090
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Impaired glucose tolerance, Postprandia... ORPHA:769
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Dystonia, Platyspondyly, Abnormal form of the vertebral bodies, Gait di... ORPHA:354
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Pain insensitivity, Decreased number of small peripheral myelinated nerve fiber... OMIM:256800
Desbuquois Dysplasia 1
Scoliosis, Platyspondyly, Hyperlordosis, Kyphosis, Waddling gait, Short neck OMIM:251450
Bohring-Opitz Syndrome
Generalized hypotonia, Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Mic... OMIM:605039
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Meningocele, Abnormality of the inter... ORPHA:2311
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder ORPHA:261222
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Kyphosis, Meningocele, Dural ect... ORPHA:2789
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Short neck ORPHA:238750
Smith-Lemli-Opitz Syndrome
Generalized hypotonia, Hypoplasia of the corpus callosum, Hypertonia, Elevated 7-dehydrocholester... OMIM:270400
Bruck Syndrome
Scoliosis, Platyspondyly, Kyphosis ORPHA:2771
Postencephalitic Parkinsonism
Akinesia, Camptocormia, Kyphosis, Bradykinesia, Oculogyric crisis ORPHA:97349
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Neona... ORPHA:71212