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 ovary morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal placenta vasculature Gnptabem1(IMPC)Mbp HOM E18.5 0.00
enlarged spleen Gnptabem1(IMPC)Mbp HET Late adult 0.00
cataract Gnptabem1(IMPC)Mbp HET   Early adult 3.10×10-05
abnormal vitreous body morphology Gnptabem1(IMPC)Mbp HET   Early adult 3.28×10-05
no spontaneous movement Gnptabem1(IMPC)Mbp HET E18.5 0.00
small kidney Gnptabem1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, incomplete penetrance Gnptabem1(IMPC)Mbp HOM   Early adult 0.00
abnormal blood vessel morphology Gnptabem1(IMPC)Mbp HET E18.5 0.00
small stomach Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Gnptabem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal stomach morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal placenta morphology Gnptabem1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Gnptabem1(IMPC)Mbp HOM E18.5 0.00
enlarged heart Gnptabem1(IMPC)Mbp HET Late adult 0.00
enlarged kidney Gnptabem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
enlarged ovary Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal uterus morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Gnptabem1(IMPC)Mbp HET Late adult 0.00
small heart Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal placenta size Gnptabem1(IMPC)Mbp HOM E18.5 0.00
abnormal kidney morphology Gnptabem1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology 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 Dorso Ventral

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 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 circulating enzyme concentration or 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
Acatalasemia
Reduced catalase level OMIM:614097
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Medial Condensing Osteitis Of The Clavicle
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... ORPHA:57196
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... ORPHA:970
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... OMIM:277950
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... ORPHA:497764
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Tremor, Chorea, Axonal degeneration, Gait ataxia, Loss of ambulat... OMIM:208920
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... ORPHA:296
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Isolated Glycerol Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis ORPHA:408
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... OMIM:302800
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired distal proprioception, Quadriceps muscle weakness, Axona... ORPHA:101097
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Dystonia, Facial palsy, Elevated alkaline phosphatase of bone or... OMIM:167320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... OMIM:619742
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger ORPHA:2787
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Respira... OMIM:618276
Juvenile Hyaline Fibromatosis
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Vocal cord paresis, Broad-based gait, Dis... OMIM:614895
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... OMIM:265900
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Osteoporosis
Osteoporosis OMIM:166710
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn... OMIM:145900
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short distal phalanx of finger ORPHA:2776
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased testicular size, Ataxia, Short stature, Kyphoscoliosis,... OMIM:604168
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb... ORPHA:93160
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Cerebral atrophy, A... OMIM:611252
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Impaired vibration sensation in the lower limbs, Hand tremor, Head tremor, ... OMIM:614409
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif... ORPHA:423296
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Kyphosis, Abnormal fo... ORPHA:2635
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper lim... ORPHA:320391
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Waddling gait, Delayed CNS myelination, Peripheral axonal neuropathy, Short s... OMIM:619090
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Osteolysis, Anemia ORPHA:158014
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Distal muscle ... OMIM:609260
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... OMIM:614727
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Abnormality of ... ORPHA:3363
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Recurr... ORPHA:204
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Short stature, Hypergonadotropic hypogonadism, Kyphosis, Progressive ... OMIM:248800
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Cognitive impairment, Brain atrophy, Difficulty walking, Cerebellar ... ORPHA:363432
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ... OMIM:619795
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Urinary incontinence, Babinski sign, Cerebral atrophy, Frontal lobe dementia, Ax... OMIM:221770
Adult Krabbe Disease
Urinary incontinence, Progressive neurologic deterioration, Hoffmann sign, Upper limb muscle weak... ORPHA:206448
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper l... OMIM:616155
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout OMIM:610947
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bo... ORPHA:2204
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Distal muscle... OMIM:601596
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:214400
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Torticollis, Tr... OMIM:607317
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, External ophthalmoplegia, Tremor, Unsteady gait, Babinski sign, Limb ataxia, ... OMIM:615768
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Distal muscle weakness, Facial palsy, Lower limb muscle weakness, Impaired pain sensation, Impair... OMIM:607684
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, Hypogonadism,... OMIM:615982
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... OMIM:617974
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Distal muscle weakness, Symmetric peripheral demyelination, Demyelin... ORPHA:206594
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn... OMIM:180800
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Proximal mus... ORPHA:99953
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Up... OMIM:607259
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal muscle weakness, Impaired pain sensation, Impaired distal vibration sensation, Babinski si... OMIM:618279
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Proximal muscle w... ORPHA:98856
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... OMIM:208230
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Cerebral... OMIM:613925
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, D... OMIM:118200
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Dysmetria, Enuresis nocturna, Foot dorsiflexor weakness, Ophthalmoplegia, N... ORPHA:171629
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Peripheral axonal neuropathy, Inability to walk, Progressive proxim... ORPHA:2596
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... ORPHA:668
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Small for gestational age, Decreased response to growth hormone stimulation ... OMIM:275400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Premature ovarian insufficiency, Parkinsonism, Proximal mus... OMIM:609286
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... OMIM:300831
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor... ORPHA:93351
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... OMIM:617225
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax... OMIM:615362
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... ORPHA:1159
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Dista... OMIM:618387
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Tenosynovial Giant Cell Tumor
Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma... ORPHA:66627
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi... OMIM:619389
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Mental deterioration, Optic atrophy, Ataxia OMIM:614706
Infantile Neuronal Ceroid Lipofuscinosis
Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmetria, Ataxia, Clumsiness, My... ORPHA:79263
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Clonus, Demyelinating motor neuropathy, Abnormal pyramidal sign, Dysmetria, Axial muscle weakness... OMIM:616479
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Urinary incontinence, Abnormal pyramidal sign, Dysmetria, Gait atax... ORPHA:98
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... ORPHA:2774
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Distal upper li... OMIM:615185
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Lower limb muscle weakness, Impaired distal ... OMIM:615035
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Ethanolaminosis
Cardiomegaly OMIM:227150
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Foot dorsiflexor weakness, Distal muscle weakness, Segmental peripheral demyelination/remyelinati... OMIM:606483
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnormal metacarpal mo... ORPHA:137834
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn... OMIM:118220
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... OMIM:602080
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Frontotemporal dementia, Babinski sign, Astrocytosis, Gait distur... OMIM:600795
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones, Osteoporosi... ORPHA:319195
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Lower limb muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Distal ... OMIM:608340
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Delayed CNS myelination, Inability to walk, Cerebral a... OMIM:618468
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, Proximal muscle weakness,... OMIM:608627
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Urinary incontinence, Chorea, Dysmetria, Gait ataxia, Gliosis, Intentio... OMIM:607136
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Scoliosis, Abnormal... ORPHA:1657
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Tongue atrophy, Hyperlordosis, Progressive muscle weakness, Gowers sign, G... OMIM:620285
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Distal muscle weakness, Foot dorsiflexor weakness, Impaired dista... OMIM:614436
Null Syndrome
Ataxia, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, CNS hypomyelination, Pr... ORPHA:280234
Cataract 42
Cataract, Developmental cataract OMIM:115900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Atrophy/Degenerati... OMIM:617862
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Premature ovarian insufficiency, Babinski sign, Hand tremor... OMIM:615889
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal muscle weakness, Paralysis, Decreased number of large peripheral myelinated nerve fibers, ... OMIM:605285
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Spastic tetraplegia, Sco... OMIM:617207
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Osteoporosis ORPHA:71267
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Difficulty walkin... ORPHA:468661
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la... OMIM:617087
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Elevated circulating aspartate aminotransferas... OMIM:271245
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... ORPHA:284332
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... OMIM:604484
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai... OMIM:609311
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Gm1 Gangliosidosis
Tremor, Depressed nasal ridge, Abnormal form of the vertebral bodies, Decreased beta-galactosidas... ORPHA:354
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Urinary incontinence, Spastic tetrap... OMIM:612319
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... OMIM:234250
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Foot dorsiflexor ... OMIM:605588
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Foot dorsif... OMIM:118210
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
X-Linked Progressive Cerebellar Ataxia
Foot dorsiflexor weakness, Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthr... ORPHA:1175
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai... OMIM:616230
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... OMIM:615957
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... ORPHA:2386
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisis, Tremor, Bilateral ptos... ORPHA:330050
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Cryptorchidis... OMIM:619310
Odontochondrodysplasia 1
Biconvex vertebral bodies, Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, F... OMIM:184260
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Osteoporosis, Coxa valga ORPHA:2958
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence, Spastic tetraparesis, Babinski sign, Loss of ambulation, Gait ataxia, Menta... OMIM:249900
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Prieto Syndrome
Clinodactyly, Osteoporosis, Radial deviation of finger, Coxa valga OMIM:309610
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Increased suscepti... ORPHA:52430
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Scoliosis, Spastic tetraparesis, Brain atrophy OMIM:618741
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis, Scoliosis OMIM:616033
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Maffucci Syndrome
Multiple enchondromatosis, Recurrent fractures, Osteolysis, Scoliosis ORPHA:163634
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... ORPHA:1525
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,... ORPHA:99013
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Distal muscle weakness, Ataxia, Segmental peripheral demyelination/remyelin... OMIM:601098
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scol... OMIM:615157
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Neuropath... OMIM:607706
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Truncal ataxia OMIM:611726
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Abnormality of the dentition OMIM:251700
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... OMIM:236792
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Limb muscle weakness, O... OMIM:620378
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypergonadotropic hypogonadism, Recurrent m... OMIM:607426
Cach Syndrome
Progressive neurologic deterioration, Dysmetria, Premature ovarian insufficiency, Renal hypoplasi... ORPHA:135
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607731
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Recurrent respiratory infections, Delayed CNS myelination, Appendicular spast... OMIM:618324
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration OMIM:610951
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Short stature, Depressed nasal bridge, Highly arched eyebrow, Spastic tetrapa... ORPHA:438178
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Fatiguable weaknes... ORPHA:2932
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Kyphosis, Synophrys, Cleft pala... ORPHA:85317
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Poor head control, Respiratory insufficie... OMIM:618184
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Lower limb... OMIM:604360
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607677
Ramon Syndrome
Osteolysis ORPHA:3019
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender... ORPHA:1486
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Decrease... OMIM:311070
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Segmental periphe... OMIM:607734
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Act... ORPHA:254886
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spastic Ataxia, Charlevoix-Saguenay Type
Impaired vibration sensation in the lower limbs, Dysmetria, Pontine T2 hypointensity, Progressive... OMIM:270550
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:616291
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Ophthalmoplegia, Babinski sign, Limb ataxia, Dysmetria, Gait ata... ORPHA:276193
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dysd... OMIM:614487
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination OMIM:616684
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Poor head control, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, ... OMIM:618973
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration OMIM:616187
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Epicanthus, Short stature, Depressed nasal bridge, Axonal degener... OMIM:162100
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence, Dysmetria, Chronic axonal neuropathy, Lower limb muscle weakness, Impaired ... ORPHA:88644
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Mitochondrial Dna Depletion Syndrome 18
Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneration, Lacticaciduria, Fa... OMIM:618811
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Arts Syndrome
Ataxia, Progressive muscle weakness, Recurrent upper respiratory tract infections, Optic atrophy,... OMIM:301835
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Anteverted nares, Kyphoscoliosis, Inability to walk, Cerebral atrophy, Growth... OMIM:618006
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, S... OMIM:604563
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Distal muscle weakness, Ataxia, Incoordination, Reduced beta-hexosaminidase a... ORPHA:309162
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Congenital Disorder Of Glycosylation, Type Iiz
Appendicular spasticity, Poor head control, Diffuse cerebellar atrophy, Clonus OMIM:620201
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impa... OMIM:607565
Gordon Holmes Syndrome
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Cerebral atrophy, Primary amen... OMIM:212840
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Kyphosis, Increased circulating IgE... ORPHA:3409
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent... OMIM:605361
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Abnormal metaphysis morphology ORPHA:2591
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Wide nose, Depressed nasal bridge, Sev... ORPHA:488635
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Slurred speech, Optic atrophy, Gait ataxia OMIM:619323
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosi... OMIM:176920
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Choreoathetosis, Hypertonia, Conjunc... OMIM:278800
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Respiratory insuffici... ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Proximal muscle weakness, Unsteady gait, Choreoathetosis, Dementia, M... OMIM:301020
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia OMIM:268010
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... ORPHA:2370
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Neck flexor weakness, Kyphosis, Gowers si... OMIM:618138
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Short stature, Prominent nose, Hypopla... OMIM:616171
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... ORPHA:98756
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Charcot-Marie-Tooth Disease, Type 4B3
Lower limb muscle weakness, Urinary incontinence, Ophthalmoplegia, Distal sensory impairment, Upp... OMIM:615284
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... ORPHA:98897
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... OMIM:608673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Neck flexor weakness, Impaired distal proprioception, Progressive muscle weakness, Hand tremor, G... OMIM:157640
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Anteverted nares, Tremor, Cerebellar gl... OMIM:616505
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Abnormal for... ORPHA:371428
Desminopathy
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... ORPHA:98909
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... OMIM:251450
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Osteoporosis, Scoliosis OMIM:618234
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis OMIM:126550
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness,... OMIM:610003
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... OMIM:610743
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Abnormal form of the vertebral bodies, Abnormal forearm b... ORPHA:2583
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Urinary bladder sphinc... ORPHA:231445
Juvenile Paget Disease
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia,... ORPHA:2801
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... OMIM:612852
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Broad t... OMIM:619638
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Anteverted nares, Splenomegaly, Cerebral... OMIM:272200
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fascicu... ORPHA:275864
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu... OMIM:607250
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Synophrys, ... OMIM:616127
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Short stature, Po... ORPHA:1170
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Tongue atroph... ORPHA:496689
Trichomegaly
Cataract OMIM:190330
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment OMIM:616039
Krabbe Disease
Diffuse cerebral atrophy, Optic atrophy, Reduced galactocerebrosidase activity, Hypertonia, Neuro... OMIM:245200
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum... OMIM:169500
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Delayed CNS myelination, Poor head control, Ataxia, Clonus, Incoordination, O... OMIM:616034
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A... OMIM:614831
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Urinary incontinence, Tremor, Oculomo... OMIM:617145
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe... OMIM:619686
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno... ORPHA:79230
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb mu... ORPHA:98916
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gai... OMIM:607736
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
Bardet-Biedl Syndrome 16
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Urinary incontinence, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Ophthalmoplegia, Gait ... ORPHA:412057
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec... OMIM:300423
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... OMIM:224050
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol... OMIM:619131
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of... ORPHA:2078
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Shor... ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent... OMIM:608029
Nathalie Syndrome
Cataract ORPHA:2663
Opitz Gbbb Syndrome
Bifid scrotum, Atrial septal defect, Enlarged ovaries, Hypospadias, Ventricular septal defect, Cr... ORPHA:2745
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... ORPHA:2788
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Functional abnormality of the bladder, Paraplegia, Optic neuritis, N... ORPHA:71211
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dystonia, Babinski sign, Spastic tetraplegia, Dysmetria, Scoliosis, Atrophy/D... OMIM:618404
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Distal muscle weakness, Ataxia, Broad-based gait, Urinary inc... OMIM:609033
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Osteoporosis, Camptodactyly of finger, Scoliosis ORPHA:48431
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Joint hyperflexibility, Abnorma... ORPHA:1515
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, S... OMIM:613849
Periventricular Nodular Heterotopia 8
Delayed CNS myelination, Cerebellar vermis atrophy, Spasticity OMIM:618185
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... OMIM:605259
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia, D... ORPHA:90103
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Cerebrotendinous Xanthomatosis
Abnormal eyelid morphology, Axonal degeneration, Progressive psychomotor deterioration, Abnormal ... ORPHA:909
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneration, Diaphragmatic paralysi... OMIM:620011
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Osteolytic defe... ORPHA:2484
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Tortuosity of conjunctiva... OMIM:613728
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... OMIM:618369
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Progressive Myoclonic Epilepsy With Dystonia
Delayed CNS myelination, Diffuse cerebral atrophy, Recurrent upper respiratory tract infections, ... ORPHA:352596
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Distal muscle weakness, Impaired distal proprioception, Decreased... ORPHA:99948
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro... OMIM:256850
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Xerostomia, Enlarged lacrimal glands, Abnorma... ORPHA:449432
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic ... OMIM:619425
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Hepatomegaly, Epicanthus, Ataxia, Anteverted nares, Kyphoscoliosis, Splenomeg... OMIM:616354
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Short stature, Increased circulating gonadotropin level, Spastic dipl... OMIM:233400
Mucolipidosis Type Iii
Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies,... ORPHA:577
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Short statu... OMIM:616756
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Osteolysis ORPHA:391
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Pauci... OMIM:611890
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia OMIM:613402
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis... ORPHA:77259
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... OMIM:204500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,... OMIM:618392
Microlissencephaly
Cerebellar atrophy, Pneumonia, Cerebral dysmyelination, Hypertonia, Cerebral cortical atrophy ORPHA:1083
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Delayed myelination, Spastic tetrapl... OMIM:613811
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Hyperlordosis, Proximal muscle weakness, Progressive muscle weakness, Recur... OMIM:620249
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... ORPHA:2796
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Leukodyst... OMIM:617916
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...