Gene Summary

Name:
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Synonyms:
EG432486

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
no spontaneous movement Gnptabem1(IMPC)Mbp HOM E18.5 0.00
small stomach Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal blood vessel morphology Gnptabem1(IMPC)Mbp HET E18.5 0.00
abnormal skin morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
enlarged kidney Gnptabem1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Gnptabem1(IMPC)Mbp HET E18.5 0.00
cataract Gnptabem1(IMPC)Mbp HET   Early adult 2.67×10-05
enlarged spleen Gnptabem1(IMPC)Mbp HET Late adult 0.00
enlarged ovary Gnptabem1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal placenta vasculature Gnptabem1(IMPC)Mbp HOM E18.5 0.00
abnormal kidney morphology Gnptabem1(IMPC)Mbp HET Early adult 0.00
small heart Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal ovary morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal placenta size Gnptabem1(IMPC)Mbp HOM E18.5 0.00
enlarged heart Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal stomach morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, incomplete penetrance Gnptabem1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
small kidney Gnptabem1(IMPC)Mbp HET Late adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

Human diseases caused by Gnptab 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 Gnptab by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Acatalasemia
Reduced catalase level OMIM:614097
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Arthritis, Abnormal... ORPHA:564003
Medial Condensing Osteitis Of The Clavicle
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... ORPHA:57196
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology, Abnormal cortical bone ... ORPHA:970
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly OMIM:264010
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia OMIM:228600
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis OMIM:256720
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Dementia, Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leuko... OMIM:615889
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Axonal loss, Rigidity, Neurodegeneration, Peripheral ... OMIM:617672
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... ORPHA:497764
Immunodeficiency 12
Osteoporosis OMIM:615468
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dementia, Cerebellar atrophy, Dystonia, Progressive external opht... OMIM:208920
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Ollier Disease
Anemia, Platyspondyly, Abnormality of the metaphysis, Osteolysis, Abnormal cartilage morphology, ... ORPHA:296
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Abnormality of the vertebral column, Peripheral demyelination, Quadriceps muscle weakness, Proxim... ORPHA:101097
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Cognitive impairment, ... OMIM:615157
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ... ORPHA:100024
Adult Krabbe Disease
Clumsiness, Peripheral demyelination, Progressive neurologic deterioration, Hemiplegia, Lower lim... ORPHA:206448
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Scoliosis, Hyperlordosis ORPHA:408
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Corpus callosum atrophy, Abnormal sperm head morphology, Cerebral atro... ORPHA:320391
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Cerebral at... OMIM:611252
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Split hand, Flexion contracture, Scoliosis, Osteolysis OMIM:221810
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Short s... OMIM:604168
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility ORPHA:2787
Aniridia 3
Cataract OMIM:617142
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... ORPHA:225154
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Diffuse white matter abnormalities, Megalencephaly, Diffuse swelling of cereb... OMIM:613925
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Abnormal diaphysis morphology, Osteolysis ORPHA:2028
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Spastic ataxia, Progressive spas... ORPHA:496756
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Proximal muscle weakness, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Short ... OMIM:619090
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Lower limb muscle weakness, Dementia, Infertility, Knee clonus, Kyphosis, Urina... OMIM:614409
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Symmetric peripheral demyelination, Peripheral demyeli... ORPHA:206594
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, C... OMIM:616192
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis... ORPHA:282166
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Dementia, Recurrent aspiration pneumonia, Neuronal loss in central nervous system,... ORPHA:204
Osteoporosis
Osteoporosis OMIM:166710
Gordon Holmes Syndrome
Dementia, Cerebellar atrophy, Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia,... OMIM:212840
Metatropic Dysplasia
Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Abnormality of the meta... ORPHA:2635
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Reduced glutathione synthetase level, Glyoxalase deficiency OMIM:231900
Spinocerebellar Ataxia Type 25
Babinski sign, Urinary urgency, Impaired distal tactile sensation, Decreased number of large peri... ORPHA:101111
Spinocerebellar Ataxia 25
Babinski sign, Cerebellar atrophy, Urinary urgency, Impaired pain sensation, Ataxia, Abolished vi... OMIM:608703
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Hypophosphatemia, Abnormal bone str... ORPHA:93160
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... ORPHA:73
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Distal muscle weakness, Gait ataxia, Difficulty walking, Somatic sens... ORPHA:423296
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Osteop... OMIM:614727
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... ORPHA:171622
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... OMIM:609260
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Proximal muscle weakness, Peripheral axonal neuropathy... ORPHA:99953
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Frontal ... OMIM:221770
Marinesco-Sjogren Syndrome
Short stature, Progressive muscle weakness, Kyphosis, Ataxia, Spasticity, Hypergonadotropic hypog... OMIM:248800
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Osteolysis ORPHA:158014
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Scoliosis, Joint laxity OMIM:616033
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cognitive impairment, Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Diff... ORPHA:363432
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Peutz-Jeghers Syndrome
Cervix cancer, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Neoplasm of the rec... ORPHA:2869
Bardet-Biedl Syndrome 4
Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, Abnormality ... OMIM:615982
Intellectual Developmental Disorder, Autosomal Recessive 68
Broad eyebrow, Narrow palpebral fissure, Cerebellar atrophy, Wide nasal bridge, Periventricular l... OMIM:618302
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Periventricular white matter hy... OMIM:618468
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor funct... OMIM:615362
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Dementia, Cerebellar atrophy, Peripheral axonal neuropathy, Urinary ... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, External ophthalmoplegia, Cognitive impairment, Hypogonadism, ... OMIM:615768
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Dementia, Proximal muscle weakness, Progressive external ophthalmoplegia, Ptosi... OMIM:609286
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Stereotypy, Trem... OMIM:617862
Oliver-Mcfarlane Syndrome
Retinal degeneration, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, P... OMIM:275400
Aminoacylase 1 Deficiency
Cerebellar atrophy, Wide nasal bridge, Hyperactivity, Muscle weakness, Delayed CNS myelination, C... OMIM:609924
Spastic Ataxia 9, Autosomal Recessive
Babinski sign, Growth delay, Frequent falls, Cerebellar vermis atrophy, Ataxia, Spasticity, Abnor... OMIM:618438
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Abnormality of epiphysis morphology, Abnormal sacroiliac joint mor... ORPHA:324964
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Kyph... OMIM:180800
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Parietal cortical atrophy, Abnormal cerebellar peduncle morphology, Abnormal pyramidal sign, Demy... ORPHA:98
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Leukodystrophy, Tremor, Ataxia, Spasticity, Hypoplasia of the corpus callosum OMIM:616494
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:615957
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormality of limb bone morphology, Abnormal cortical bone morph... ORPHA:2204
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Hypertroph... OMIM:118200
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Proximal muscle weakness in ... ORPHA:98856
Autosomal Recessive Spastic Paraplegia Type 35
Atrophy/Degeneration affecting the brainstem, Peripheral demyelination, Corpus callosum atrophy, ... ORPHA:171629
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis OMIM:618234
Spinocerebellar Ataxia 43
Rigidity, Tremor, Cerebellar vermis atrophy, Distal sensory impairment, Ataxia, Limb ataxia, Gait... OMIM:617018
Flynn-Aird Syndrome
Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increased bone mineral ... OMIM:136300
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebral white ma... ORPHA:468661
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... ORPHA:100070
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... ORPHA:2114
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Cerebellar atrophy, Lower limb spasticity, Iron ... OMIM:619389
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Cerebral atrophy, Motor deterioration, Dementia, Dysmetria, Brain atrophy, Poor fine ... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Steppage gait, Leukoencephalopathy, ... OMIM:618387
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spastic Paraplegia 7, Autosomal Recessive
Upper limb hypertonia, Spastic ataxia, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:607259
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Proximal muscle weakness, Peripheral axonal neuropathy, Optic disc pallor, Respira... OMIM:617087
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Spastic tetraplegia, Ataxia, Spa... OMIM:617207
Osteosarcoma
Abnormality of the metaphysis, Pathologic fracture, Abnormality of the femoral metaphysis, Abnorm... ORPHA:668
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Autosomal Spastic Paraplegia Type 58
Short stature, Torticollis, Peripheral demyelination, Spastic ataxia, Fasciculations, Cerebral at... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Cerebellar atrophy, Growth delay, Ataxia, Spasticity, Limb ataxia, ... OMIM:614322
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Short stature, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferi... OMIM:610185
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... ORPHA:1310
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Hypertroph... OMIM:118220
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Spastic ataxia, Cerebral atrophy, Loss of ambulation, Hypertonia, Slurred speech, Poo... ORPHA:137898
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormality of epiphysis morphology, Short metatarsal, Osteoporosis, Plat... ORPHA:93351
Nescav Syndrome
Optic atrophy, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar vermis... OMIM:614255
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Dementia, Cerebellar atrophy, Parkinsonism, Tremor by anatomic... ORPHA:98762
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Tenosynovial Giant Cell Tumor
Abnormal hip joint morphology, Abnormal shoulder morphology, Limitation of joint mobility, Joint ... ORPHA:66627
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Cerebellar atrophy, Ptosis, Dysmetria, Kyphosis, Ataxia, Spasticity... OMIM:610743
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Dystonia, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Hypoplasia of the corpus cal... OMIM:611726
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Dementia, Cognitive impairment, Muscle weakness, Hypertonia, Slurred speech, Tip-toe ... ORPHA:2386
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Jaberi-Elahi Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Sparse eyelashes, Depressed nasal bridge, Choreoathe... OMIM:617988
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Increased susceptibility to fractu... OMIM:259450
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Cerebellar atrophy, Peri... OMIM:615663
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Short long bo... OMIM:271530
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Cerebellar atrophy, Urinary urgency, Dysmetria, Cognitive impairment, Leukoencephalopat... OMIM:611390
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... ORPHA:166277
Ck Syndrome
Abnormal cortical bone morphology, Kyphosis, Joint hypermobility, Abnormal digit morphology, Hype... OMIM:300831
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... ORPHA:1159
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Abnormal periventricular white matter morphology, E... OMIM:612319
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Clonus, Peripheral axonal neuropathy, Babinski sign, Steppag... OMIM:615035
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Axonal loss, Cerebellar atrophy, Tongue fasciculations, Ptosis, Dysmetria, Tremor,... OMIM:618170
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Optic atrophy, Cerebellar atrophy, Ataxia OMIM:614706
Microlissencephaly
Cerebellar atrophy, Pneumonia, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Mi... ORPHA:1083
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Poor head control, Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Polymicrogyria, Sp... OMIM:618973
Gm1 Gangliosidosis
Short stature, Abnormal form of the vertebral bodies, Encephalomalacia, Splenomegaly, Hepatosplen... ORPHA:354
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Proximal muscle weakness, Steppage gait, Axonal degeneration, Distal sensory im... OMIM:616155
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Dysplastic corpus callosum, Ataxia, Inability to walk, Tetraparesis... OMIM:618276
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Limb muscle w... OMIM:608340
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Spinocerebellar Ataxia 17
Dementia, Dysmetria, Neuronal loss in central nervous system, Bradykinesia, Intention tremor, Uri... OMIM:607136
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Spastic tetraparesis, Brain atrophy, Scoliosis, Microcephaly OMIM:618741
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormality of epiphysis morphology, Metacarpal osteolysis, Slender long bone, Limitation of join... ORPHA:2774
Myopathy And Diabetes Mellitus
Babinski sign, Dementia, Peripheral axonal neuropathy, Pelvic girdle muscle weakness, Frequent fa... ORPHA:2596
Shashi-Pena Syndrome
Osteoporosis, Scoliosis, Kyphosis OMIM:617190
Trichomegaly
Cataract OMIM:190330
Chronic Inflammatory Demyelinating Polyneuropathy
Fatiguable weakness of proximal limb muscles, Motor conduction block, Paresthesia, Spontaneous pa... ORPHA:2932
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Proximal muscle weakness, Hand tremor, Gliosis, Axonal degeneration, Fasciculat... OMIM:604484
Spinocerebellar Ataxia Type 5
Slurred speech, Gait disturbance, Cerebellar atrophy, Incoordination ORPHA:98766
Fatty Acyl-Coa Reductase 1 Deficiency
Dandy-Walker malformation, Highly arched eyebrow, Cerebellar atrophy, Depressed nasal bridge, Gro... ORPHA:438178
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:145900
Ethanolaminosis
Cardiomegaly OMIM:227150
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Postural tremor, Dementia, Dystonia, Kinetic tremor, Cerebral white m... ORPHA:98756
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Short stature, Kyphoscoliosis, Leukodystrophy, Low hanging columella, Inabili... OMIM:618006
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the metaphysis, Abnormal diaphysis morphology, Osteoarthritis, ... ORPHA:1657
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... OMIM:606483
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, CNS demyelination, Dysmetria, Neuronal loss in central nervous... OMIM:610245
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Kyphosis, Brachydactyly, Camptodactyly of finger, Joint stiffness, C... ORPHA:137834
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Abnormality of the orbital region, Dysmetria, Torticollis, Int... OMIM:613908
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Proximal muscle weakness, Cerebellar atrophy, Paresthesia, External ophthalmoplegi... ORPHA:254886
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Chondroectodermal Dysplasia With Night Blindness
Metaphyseal dysplasia, Fractures of the long bones, Osteoporosis, Metaphyseal irregularity, Platy... ORPHA:319195
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Mental de... OMIM:618369
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Short stature, Dysmetria, Progressive gait ataxia,... ORPHA:284332
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Astrocytosis, Ste... ORPHA:275864
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Involuntary movements, Dystonia, Cerebellar atrophy, High palate, Chorea, Epicanthus, Microcephal... OMIM:617804
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Proximal muscle weakness, Axonal... OMIM:605588
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Gowers sign, Proximal muscle weakness in lower limbs, Neck flexor weakness, Axonal degeneration, ... OMIM:618138
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... OMIM:249900
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... ORPHA:1175
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Ataxia, Progressive microcephaly, Hyperactivity, Hy... OMIM:613402
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... ORPHA:70482
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy, Mental deterioration OMIM:610951
Spastic Paraplegia Type 7
Optic atrophy, Babinski sign, Cerebellar atrophy, Optic disc pallor, Urinary urgency, Memory impa... ORPHA:99013
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Osteoporosis, Platyspondyly ORPHA:71267
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cranio-Osteoarthropathy
Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Clubbing of to... ORPHA:1525
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Increased... ORPHA:93284
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Finger clinodactyly, Osteoporosis ORPHA:2958
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Prieto X-Linked Mental Retardation Syndrome
Radial deviation of finger, Coxa valga, Osteoporosis, Clinodactyly OMIM:309610
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Osteoporosis, Epiphyseal dysplasia, Joint laxity OMIM:248010
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Second metatarsal posteriorly placed, Kyphoscoliosis, Osteoporosis, Arthrogry... OMIM:214150
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Distal lower limb muscle weaknes... OMIM:609311
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Irregular vertebral endplates, Osteoporosis, Platyspondyly, Kyphosis, Scol... OMIM:234250
Cach Syndrome
Secondary amenorrhea, Atrophy/Degeneration affecting the brainstem, Progressive neurologic deteri... ORPHA:135
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... ORPHA:276193
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degenerat... OMIM:618404
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Limb muscle weakness, Dysmetria, Progressive gait ataxia, Sens... OMIM:607458
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Increased susceptibility to fractures, Abnorm... ORPHA:52430
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Hyponatremia ORPHA:3225
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Urinary bladder sphincter dysfun... OMIM:610357
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Falls, Bradykinesia,... OMIM:300423
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Scoliosis, Generalized osteoporosis OMIM:613849
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... OMIM:258650
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Cerebellar atrophy, Cleft palate, Progressive neurologic deterioration, Kyphosi... ORPHA:85317
Odontochondrodysplasia 1
Flat acetabular roof, Irregular epiphyses, Genu varum, Small epiphyses, Coronal cleft vertebrae, ... OMIM:184260
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Amyotrophic later... OMIM:602433
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Peripheral demyelination, Glomerular sclerosis, Stage 5 chronic kidney diseas... OMIM:617731
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
4H Leukodystrophy
Optic atrophy, Dystonia, Cerebellar atrophy, Short stature, Cerebral hypomyelination, Dysmetria, ... ORPHA:289494
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, D... OMIM:604563
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Spastic tetraplegia, Pachygy... OMIM:618730
Maffucci Syndrome
Recurrent fractures, Multiple enchondromatosis, Scoliosis, Osteolysis ORPHA:163634
Hypermanganesemia With Dystonia 2
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... OMIM:617013
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Prog... OMIM:270550
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Retinal degeneration OMIM:251700
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Generalized muscle weakness, Atrophy of the spinal cord, Fasciculations,... ORPHA:466768
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal sensory impairment, Axonal regeneration, Decreased number of peripheral mye... OMIM:607731
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Rigidity, Neuronal loss in ce... OMIM:610127
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, Cerebral a... OMIM:600143
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Dystonia, Cerebellar atrophy, Bilateral ptosis, Tremor, Inability to walk, Diffuse... ORPHA:330050
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar gliosi... OMIM:616505
Nathalie Syndrome
Cataract ORPHA:2663
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Mental deterioration OMIM:616187
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Cerebellar atrophy, Short stature, Poor motor coordination... ORPHA:1170
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Dementia, Cerebellar atrophy, Hepatomega... OMIM:203700
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Growth delay, Severe demyelination of the wh... ORPHA:488635
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... ORPHA:208981
Spinocerebellar Ataxia 12
Dementia, Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadoc... OMIM:604326
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia OMIM:611694
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Slender long bone, Limi... ORPHA:1486
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Urinary urgency, Ur... OMIM:604360
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Cleft palate, Depressed nasal bridge, Short stature, Ptosis, Upsl... OMIM:162100
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment, Decreased number of p... OMIM:607677
Filippi Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Intrauterine growth retardation, Underdeveloped nasa... OMIM:272440
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal cortical bone morphology, De... ORPHA:2097
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal end... OMIM:144750
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Ramon Syndrome
Osteolysis ORPHA:3019
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Gait disturbance, Distal sensory impairment, Decreased phosp... OMIM:311070
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Cerebellar atrophy, Frequent falls, Facial diplegia, Kyphoscoliosis, Generalized... ORPHA:370980
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract OMIM:615995
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Amenorrhea, Ataxia, Premature ov... OMIM:619425
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Bardet-Biedl Syndrome 16
Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615993
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Atrophy/Degeneration affecting the brainstem, Fasciculations, Chronic axonal neuropat... ORPHA:88644
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Symmetric peripheral demyelination, Pseudobulbar paralysis, Gliosis, Progressive n... OMIM:169500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Bowing of the long bones, Ver... OMIM:602080
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Cerebellar atrophy, CNS demyelination, Short stature, Hypopl... OMIM:272200
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Osteoporosis, Platyspondyly, Dislocated radial head, Arachnodactyly, Joint hyperm... OMIM:614856
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mitochondrial Dna Depletion Syndrome 18
Proximal muscle weakness, Clonus, Lacticaciduria, Falls, Axonal degeneration, Tongue fasciculatio... OMIM:618811
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Cerebellar atrophy, Ptosis, Ophthalmoparesis, Hypertonia, Spasticity, Pa... OMIM:610246
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Short stature, Upslanted palpebral fissure, Prominent nasal bridge, K... OMIM:618443
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Pontocerebellar Hypoplasia, Type 2D
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Progressive microcephaly, Cerebral atrop... OMIM:613811
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma ORPHA:99976
Arts Syndrome
Optic atrophy, Growth delay, Progressive muscle weakness, Recurrent infections, Spinal cord poste... OMIM:301835
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Corpus callosum atrophy, Ophthalmoplegia, Cerebellar hypoplasia, Parieta... ORPHA:412057
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... OMIM:616981
Acute Disseminated Encephalomyelitis
Optic neuritis, Cerebral edema, Abnormality of the basal ganglia, Abnormal pyramidal sign, Abnorm... ORPHA:83597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal muscle weakness, Cerebellar cyst, Cerebellar atrophy, Vertebral fusion, Frequent falls, ... OMIM:606612
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Flexion contracture of toe, Abnormality of epiphysis morphology, Osteoporosis, Ky... ORPHA:3409
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Kyphoscoliosis, Splenomegaly, Calvarial hyperostosis, ... OMIM:176920
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Cerebellar atrophy, Cleft palate, Dysmetria, Myoclonus, Decreased nerve conduction... OMIM:618356
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Slurred speech, Optic atrophy, Cerebellar atrophy, Gait ataxia OMIM:619323
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Reduced bone mineral densit... ORPHA:2370
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy OMIM:268010
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Abnormality of the metaphysis, Limitation of joint mobility, Osteolysis ORPHA:2591
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Short metatarsal, Short 1st metacarpal, Flat acetabular r... OMIM:251450
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, Dystonia, Diffuse cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal mot... ORPHA:352596
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Diffuse demyelination of the cerebral white matter, Abnormal astrocyte morpho... ORPHA:168486
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger clinodactyly,... OMIM:615923
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebellar atrophy, Growth delay, Spasticity, Cerebral atrophy, Microcephaly OMIM:617899
Oculopharyngodistal Myopathy
Progressive ptosis, High, narrow palate, High palate, Recurrent aspiration pneumonia, Fatigable w... ORPHA:98897
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2410
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Short stature, Dysmetria, Simplified gyral pattern, Intention tremor, Pachygy... OMIM:224050
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:600081
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle ... OMIM:617435
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Short stature, Dysmetria, ... OMIM:275900
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Short stature, Neurodegeneration, Progressive muscle weakness, Conjunctival t... OMIM:615919
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Desminopathy
Thoracic kyphoscoliosis, Fatigable weakness of bulbar muscles, Neck flexor weakness, Progressive ... ORPHA:98909
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Bruck Syndrome
Bowing of the long bones, Osteoporosis, Arthrogryposis multiplex congenita, Platyspondyly, Kyphos... ORPHA:2771
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Juvenile Huntington Disease
Dystonia, Dementia, Neuronal loss in basal ganglia, Cerebellar atrophy, Rigidity, Chorea, Myoclon... ORPHA:248111
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral white matter hypoplasia, Short stature, Wide nasal bridge, Downslanted palpebral fissure... ORPHA:3207
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Urinary urgency, Knee clonus, Urinary bladder sphinc... OMIM:607565
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Axonal loss, Peripheral demyelination, Kyphoscoliosis, Ataxia, Difficulty walking OMIM:616684
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Perrault Syndrome 1
Cerebellar atrophy, High palate, Short stature, Cognitive impairment, Increased circulating gonad... OMIM:233400
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bilateral ptosis, Respiratory insufficiency due to muscle w... ORPHA:254875
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy,... OMIM:610003
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Babinski sign, High palate, Upper limb spasticity, Lower limb spasticity, Kypho... OMIM:611225
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Biconcave flattened vertebrae OMIM:166230
Mycetoma
Bone cyst, Abnormality of forearm bone, Osteoporosis, Abnormal form of the vertebral bodies, Abno... ORPHA:2583
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Osteopenia, Femoral bowing, Recurrent fractures, Scoliosis OMIM:126550
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Limb muscle weakness, Decreased nerve conduction velocity... OMIM:615284
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Peripheral axonal neuropathy, High palate, Ptosis, Facial diplegia, Neonatal death, Res... OMIM:611890
Juvenile Paget Disease
Bowing of the long bones, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabecularization, Cran... ORPHA:2801
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abnormal trabecular bone morp... ORPHA:75508
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia OMIM:618876
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progress... OMIM:607346
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Nephrotic syndrome, Progressive muscle weakness, Glomerular sclerosis, Ataxia... OMIM:607426
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment, Steppage gait OMIM:616039
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Reduced bone mineral density, Genu va... OMIM:265900
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Platyspondyly, Thoracic kyphosis, Femoral bowing, Broad t... OMIM:619638
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Highly arched eyebrow, CNS demyelination, Peripheral demyelinat... OMIM:220111
Charcot-Marie-Tooth Disease Type 4A
Spinal deformities, Quadriceps muscle weakness, Chronic axonal neuropathy, Demyelinating peripher... ORPHA:99948
Lichtenstein Syndrome
Neutropenia, Decreased circulating IgA level, Ulnar deviation of finger, Increased susceptibility... OMIM:246550
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Short stature, Dysme... OMIM:607694
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Short stature, Lower limb spasticity, Kyphosis, Ataxia, Inability to walk, Waddling gai... OMIM:616756
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Cleft palate, Recurrent infections, Postnatal growth retardation, Cerebral atrophy, ... OMIM:611209
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Smooth philtrum, High palate, Broad nasal tip, Macular degeneration, Thin upper lip vermilion, De... OMIM:612948
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Leukodystrophy, Ataxia, Sc... ORPHA:527497
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Progressive external ophthalmoplegia, Impaired distal p... OMIM:157640
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ata... OMIM:616291
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Osteopenia, Wide anter... ORPHA:85184
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Short stature, Ptosis, Dilated fourth ventricle, Dysmetria, Inferior vermis h... OMIM:614831
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Depressed nasal bridge, Short stature, Short nose, Wide nasal bridge, Cerebra... OMIM:616430
Cerebrotendinous Xanthomatosis
Progressive psychomotor deterioration, Global brain atrophy, Axonal degeneration, Paraparesis, Pr... ORPHA:909
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteolysis involving bones of the lower limbs, Increased susceptibility to fra... ORPHA:371428
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, G... OMIM:608029
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Steppage gait, Peripheral demyelination, Distal sensory impairm... OMIM:607736
Peho-Like Syndrome
Optic atrophy, Cerebellar atrophy, Short nose, Epicanthus, Myoclonus, Pachygyria, Progressive mic... OMIM:617507
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Premature epimetaphyseal fusion, Synovitis, Abnormality of epiphysis morphology, Abnormality of l... ORPHA:85435
Japanese Encephalitis
Decreased motor nerve conduction velocity, Cerebral edema, Abnormality of thalamus morphology, Di... ORPHA:79139
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Babinski sign, Cerebellar atrophy, High palate, Short stature, Spastic dysarthria, Ster... ORPHA:280763
Krabbe Disease
Progressive spasticity, Optic atrophy, CNS demyelination, Neurodegeneration, Peripheral demyelina... OMIM:245200
Motor Neuron Disease With Dementia And Ophthalmoplegia
Dementia, Ophthalmoparesis, Astrocytosis, Ophthalmoplegia, Cerebral atrophy, Degeneration of ante... OMIM:600333
Scholte Syndrome
Cerebellar atrophy, Broad nasal tip, Upslanted palpebral fissure, Kyphoscoliosis, Epicanthus, Bif... OMIM:300977
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Impaired distal proprioception, Recurrent acute respiratory tract i... ORPHA:231445
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Osteoporosis, Platyspondyly, Joint hypermobility, Coxa vara, Coxa valga, Recu... OMIM:619131
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to wa... OMIM:618090
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Splenomegaly, Unilateral renal agenesis, Basal ganglia calc... ORPHA:90324
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Osteoporosis, Elev... ORPHA:79230
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis, Vertebral compression fracture, Kyphosis ORPHA:85193
Pontocerebellar Hypoplasia, Type 3
Optic atrophy, High, narrow palate, Cerebellar atrophy, High palate, Depressed nasal bridge, Shor... OMIM:608027
Fibrous Dysplasia Of Bone
Hypercalcemia, Abnormality of the ulna, Thin bony cortex, Abnormality of femur morphology, Fibrou... ORPHA:249
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Short stature, Dysmetria, Gait ataxia, Short neck, Cerebral atrophy, Recurren... ORPHA:320385
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Impaired proprioception, Cerebellar atrophy, Gait imbalance, Gait... ORPHA:98755
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral d... OMIM:609033
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph... OMIM:612852
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Neuronal loss in central nervous system, Peripheral demyelination, Optic neuritis, Fu... ORPHA:71211
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m... ORPHA:98850
Behr Syndrome
Progressive spasticity, Optic atrophy, Gait disturbance, Cerebellar atrophy, Babinski sign, Dysme... OMIM:210000
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Dementia, Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Progressive ... ORPHA:513436
Geroderma Osteodysplastica
Biconcave vertebral bodies, Beaking of vertebral bodies, Abnormality of epiphysis morphology, Ost... ORPHA:2078
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Cognitive impairment, Tremor, Oculomot... OMIM:617145
Galactosemia Iv
Cataract OMIM:618881
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Cerebral Visual Impairment
Central nervous system degeneration, Optic atrophy, Cl