Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
colony stimulating factor 1 receptor
Synonyms:
CSF-1R,  M-CSFR,  CD115,  Fim-2,  Fms,  Csfmr,  Fim2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Csf1r 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 Csf1r by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Rigidity, Gliosis, Depression, Frontal lobe dementia, Abnormal cerebral white matter mor... OMIM:221820
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Rigidity, Abnormal periventricular white matter morphology, Abnormal... OMIM:618476

The table below shows human diseases predicted to be associated to Csf1r by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Disinhibition, Aggressive behavior, Gliosis, Hypoplasia of the corpus callosum, Frontal ... OMIM:221770
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Cerebral a... OMIM:617672
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Dementia, Depression, Neurodegeneration, Ataxia, Cerebellar atrophy, P... OMIM:615889
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Aggressive behavior, Spastic paraparesis, Depressi... OMIM:615157
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Huntington Disease
Dystonia, Clumsiness, Poor fine motor coordination, Memory impairment, Rigidity, Aggressive behav... ORPHA:399
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Difficulty walkin... OMIM:302800
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Dementia, Hypoplasia of the corpus callosum, Hypertonia, Slurred speech, Tetraparesis... ORPHA:2386
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Krabbe Disease
Peripheral demyelination, Autoimmune thrombocytopenia, Hypertonia, Neurodegeneration, Motor deter... OMIM:245200
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Steppage gait, Difficulty walking, Hypoplasia of the corpus callosum, Onion b... OMIM:615035
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Spontaneous pain sensation, Motor conduction block, Abnormal nerve c... ORPHA:2932
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Cerebe... ORPHA:497764
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Abnormal periventricular white matter morphology, Decreased nerve conduction velocit... OMIM:249900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Truncal ataxia, Gait ataxia, Dementia, Mental deterioration, Tremor, L... OMIM:208920
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral my... OMIM:604484
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Carious teeth, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mine... OMIM:259700
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Agenesis of corpus callosum, Limb ataxia, Cerebellar atrophy, Impaired vibra... OMIM:610245
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination, Onion bulb formation, Distal sensory impairment, Axonal degen... OMIM:606483
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic paraparesis, Depression, Hypoplasia of the corpus callosum, Gait dist... OMIM:615643
Familial Expansile Osteolysis
Osteolysis, Bowing of the long bones, Bone pain, Pathologic fracture, Thin bony cortex OMIM:174810
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormal cortical bone morphology, Increas... ORPHA:2204
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical bone morp... ORPHA:970
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Cerebral atrophy, Pe... OMIM:604168
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Progressive neurologic deterioration, Diffuse white matter abnormalities, Hypertonia, Cerebral at... OMIM:613925
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Sensory ataxia, Vocal cord paresis, Basal lamina onion... OMIM:614895
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Stillbirth, Micrognathia, Extramedullary hematopoiesis, Growth delay, Hyperbilirubi... OMIM:259720
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration, Distal sensory impairment, Steppage gait OMIM:615185
Adult Krabbe Disease
Progressive neurologic deterioration, Hoffmann sign, Clumsiness, Tetraparesis, Upper motor neuron... ORPHA:206448
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Extramedullary hematopoiesis, Mandibular prognathia, Recurrent fractu... OMIM:259710
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Fasciculations, Decreased motor nerve conduction velocity, Toe walking, Impaired distal vibration... OMIM:614436
Alg13-Cdg
Clumsiness, Global brain atrophy, Cognitive impairment, Anteverted nares, Abnormal lateral ventri... ORPHA:324422
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Cerebral cortical atrophy, Lower limb spasticity... ORPHA:401820
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Huntington Disease-Like 1
Basal ganglia gliosis, Incoordination, Aggressive behavior, Dementia, Global brain atrophy, Depre... OMIM:603218
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Abnormal periventricular wh... OMIM:604360
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Failure to thrive, Splenomegaly, Anemia OMIM:615085
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Recurrent fractures, Generalized os... ORPHA:210110
Regional Odontodysplasia
Enamel hypoplasia, Abnormal dental enamel morphology, Carious teeth, Pulp calcification, Hypoplas... ORPHA:83450
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Severe demyelination of the white matter, Cerebel... ORPHA:488635
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Galloway-Mowat Syndrome 5
Pachygyria, Ventriculomegaly, Ataxia, Brain atrophy, Peripheral demyelination, Microcephaly, Spas... OMIM:617731
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Dementia, Depression, Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Inc... OMIM:204300
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, F... ORPHA:412066
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Progressive neurologic deterioration, Leukodystrophy, Corpus callosum atr... OMIM:169500
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired tactile sensati... ORPHA:99953
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation OMIM:147530
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Steppage gait OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Optic atrophy, Mental deterioration OMIM:610951
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Depression, Abnormality of extrapyramidal motor function, Ataxia, Emotional lab... OMIM:615362
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Depression, Senile plaques, Abnormality of extr... ORPHA:100070
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Monosomy 5P
Finger syndactyly, Joint hyperflexibility, Recurrent fractures, Small hand, Abnormality of bone m... ORPHA:281
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Progressive neurologic deterioration, Leukodystrophy, Dystonia, Hypointensity of cerebral white m... OMIM:619196
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Difficulty walking, Onion bulb formation, Frequent falls, Steppage gait OMIM:618279
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Abnormal periventricular white matter morphology, Chorea, Hypoplasia of the ... OMIM:613811
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anosmia, Decreased number of peripheral myelinated nerve fibers, Hyposmia, Distal sensory impairm... OMIM:608720
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:607677
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly... OMIM:611490
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Axonal regeneration, Distal sensory impairment, Decreased number of peripheral mye... OMIM:607731
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... OMIM:612840
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased number of peripher... OMIM:118200
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Abnormal myelination, Lower limb spasticity, Spastic gait, Bab... ORPHA:401840
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Rigidity, Gliosis, Depression, Frontal lobe dementia, Abnormal cerebral white matter mor... OMIM:221820
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Delayed tarsal ossification, Flat acetabular roof, Long thumb, Dela... OMIM:600002
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Abnormal cortical bone morphology, Arthritis, Clubbing of toes, ... ORPHA:1525
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Lower limb spasticity, Abnormal myelinati... ORPHA:401830
Neuropathy, Hereditary Sensory, Type Ie
Dementia, Apathy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Impul... OMIM:614116
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Lisse... ORPHA:300573
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Aggressive behavior, Dementia, Abnormality of extrapyramidal motor function, Sp... OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Distal sensory impairment, Decreased number of la... OMIM:608340
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Aggressive behavior, Impaired tact... OMIM:617225
Spinocerebellar Ataxia 25
Abolished vibration sense, Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebe... OMIM:608703
Metachromatic Leukodystrophy
Dystonia, Peripheral demyelination, Chorea, Gait disturbance, Abnormal cerebral white matter morp... OMIM:250100
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Lower limb spa... OMIM:613162
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Lichtenstein Syndrome
Osteoporosis, Neutropenia, Increased susceptibility to fractures, Decreased circulating IgA level... OMIM:246550
Osteoglosphonic Dysplasia
Cryptorchidism, Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure to thrive in in... ORPHA:2645
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint laxity, Increased susceptibility to fractures, Congenital bilateral hip dislocation, Premat... OMIM:130060
Central Neurocytoma
Lethargy, Paresthesia, Depression, Pain insensitivity, Ataxia, Cerebral calcification, Babinski s... ORPHA:73256
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Conductive hearing impairment, Torus palatinus, Osteopetrosis, Generalized osteo... OMIM:607634
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... OMIM:607791
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Disinhibition, Gliosis, Neurofibrillary tangles, Hypersexuality, Apathy, Frontotemporal ... OMIM:607485
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Aggressive behavior, Bulbous nose, Absent septum pellucidum, Hypoplasia of the... OMIM:618492
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Tremor, Disinhibition, Rigidity, Dementia, Chorea, Subcortical dementia, Neurodegenerat... OMIM:606159
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Osteopenia, Down-sloping shoulders, Recurrent fractures ORPHA:91133
Spinocerebellar Ataxia Type 25
Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Decreased number of large... ORPHA:101111
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Joint laxity, Recurrent fractures, Epiphyseal dysplasia OMIM:248010
Autosomal Recessive Spastic Paraplegia Type 35
Pontocerebellar atrophy, Lower limb hypertonia, Cerebral cortical atrophy, Generalized dystonia, ... ORPHA:171629
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Gait disturba... OMIM:611228
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Ataxia, Rap... OMIM:272200
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Hypertrophic Neuropathy Of Dejerine-Sottas
Sensory ataxia, Decreased motor nerve conduction velocity, Decreased number of peripheral myelina... OMIM:145900
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Head tremor, Action tremor, Cerebral co... OMIM:604326
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruption of primar... OMIM:265800
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Grant Syndrome
Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones, Abnormal cort... ORPHA:2097
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration, Distal sensory impairment OMIM:616155
Albers-Schönberg Osteopetrosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized osteosclerosis... ORPHA:53
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Brain atrophy, Abnormal myelination,... ORPHA:85179
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Depression, Difficulty walking, Hemiparesis, Bradykinesia, Brain atrophy, Parki... ORPHA:306669
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... OMIM:608673
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Positive Romberg sign, Gait ataxia, Distal sensory impairment, Peripheral demyelination, Optic at... OMIM:258650
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Mandibular os... OMIM:166600
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Paraplegia, Neuronal loss in central nervous system, Peripheral demy... ORPHA:71211
Caffey Disease
Periosteal thickening of long tubular bones, Increased circulating antibody level, Cortical thick... ORPHA:1310
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Gait disturbance, Onion bulb formation, Distal sensory impairment, Optic atrophy, Segmental perip... OMIM:311070
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Abnormal cerebral white matter morphology, V... ORPHA:248111
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Recurrent fractures... OMIM:600081
Bruck Syndrome 1
Osteoporosis, Talipes equinovarus, Protrusio acetabuli, Joint laxity, Coxa vara, Increased suscep... OMIM:259450
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Bone pain, Increased spinal bone density ORPHA:329475
Osteogenesis Imperfecta, Type V
Joint hypermobility, Recurrent fractures, Anterior radial head dislocation, Hyperextensibility at... OMIM:610967
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large iliac wing, Conductive hearing impairment, Osteopetrosis, High i... ORPHA:2780
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Corpus callosum atrophy, Diffuse demyelination of the cerebral white matter... ORPHA:77299
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Aggressive behavior, Hypoplasia of the corpus callosum, Ataxia, Wide... OMIM:300983
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Hyperostosis, Clinodactyly of the 3rd toe, Epiphyseal streaking, Increas... OMIM:604922
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination OMIM:607736
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Apathy, Limb ataxi... ORPHA:135
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Desmosterolosis
Ambiguous genitalia, Narrow mouth, Large earlobe, Low-set, posteriorly rotated ears, Growth delay... ORPHA:35107
Osteoglophonic Dysplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Chordee, Mandibular ... OMIM:166250
Spinocerebellar Ataxia 17
Dystonia, Gliosis, Rigidity, Aggressive behavior, Chorea, Ataxia, Parkinsonism, Neuronal loss in ... OMIM:607136
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Osteoporosis, Joint laxity, Crumpled long bones, Increased... ORPHA:2788
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia... ORPHA:309246
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment, Peripheral demy... ORPHA:99944
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Cerebral atrophy, Ventriculomegaly, Ataxia, Sea-blue histiocytosis, Progressive... OMIM:230600
Kufor-Rakeb Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Hypertonia, Torticolli... OMIM:606693
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Dementia, Depression, Apathy, Paraparesis, Cerebral atrophy, Frontotemporal dem... OMIM:105550
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Osteosarcoma
Osteolysis, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Patholog... ORPHA:668
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Dementia, Depression, Abnormality of extrapyramidal motor function, Gait distur... OMIM:614298
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Brain atrophy, Onion bulb formation, Distal sensory impairment, Decreased nerve... OMIM:615284
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Joint hyperflexibility, 2-3 toe syndactyly, Recurrent fractures, Osteopenia, Delayed skeletal mat... ORPHA:2324
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Bone cyst, Pathologic fracture OMIM:618193
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Abnormal cerebral white matter morphology, Axonal degeneration, Decreased nerve co... OMIM:618138
Hereditary Late-Onset Parkinson Disease
Dystonia, Rigidity, Dementia, Depression, Parkinsonism with favorable response to dopaminergic me... ORPHA:411602
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Sandal gap, Short distal phalanx of finge... OMIM:311300
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Clumsiness, Global brain atrophy, Spastic hemiparesis, Diffuse spongiform leukoence... ORPHA:282166
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Increased bone mineral density, Hepatomegaly, Anem... ORPHA:37748
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neur... OMIM:615490
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Rhizomelia OMIM:301014
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Craniometaphyseal Dysplasia
Conductive hearing impairment, Craniofacial hyperostosis, Osteopetrosis, Sensorineural hearing im... ORPHA:1522
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:300554
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Rigidity, Abnormal periventricular white matter morphology, Abnormal... OMIM:618476
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Sensorineural hearing impairment, Small for gestational age, Low po... ORPHA:73272
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Increased susceptibility to fractures, Knee flexion con... OMIM:609220
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, CNS demyelination, Peripheral demyelination OMIM:250850
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Dementia, Abnormality of extrapyramidal moto... OMIM:204200
Diastrophic Dwarfism
Cryptorchidism, Overfolded helix, Abnormality of the metacarpal bones, Increased bone mineral den... ORPHA:628
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Increased circulating IgE level, Recurrent fractures, Oste... OMIM:147060
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Cerebral dysmyelination, Dysplastic corpus callos... OMIM:252650
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Gliosis, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Tetra... OMIM:614959
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... OMIM:611497
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Depression, Chorea, Ataxia, Parkinsonism, Anxiety, Inappropriate behavior, Uppe... ORPHA:401901
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphol... ORPHA:1822
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Flynn-Aird Syndrome
Osteoporosis, Progressive sensorineural hearing impairment, Carious teeth, Increased bone density... OMIM:136300
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Flexion contracture, Recurrent fractures, ... ORPHA:1306
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Akinetic mutism, Dementia, Abnormality of extrapyramidal motor function, Gliosis, C... ORPHA:204
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures, Delayed skeletal maturation ORPHA:2410
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Abnormal dental enamel morphology, Mandibular prognathia, Increased bone mineral ... ORPHA:2658
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to... OMIM:259410
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontotemporal dementia, Am... OMIM:600274
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:241530
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Poor co... ORPHA:478029
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibiofibular diastasis, Sclero... ORPHA:566943
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... OMIM:270550
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Irritability, Spastic tetraplegia, Peripheral demyelination, Optic atrophy OMIM:618237
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Memory impairment, Dysdiadochokinesis, Paresthesia, S... ORPHA:247245
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of extrapyramidal motor function, Emotional lability, Cerebral cortical atrophy, Memo... ORPHA:2822
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Increased circulating IgE level, Abnormali... ORPHA:3409
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Congenital Hydrocephalus
Colpocephaly, Bulbous nose, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, ... ORPHA:2185
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures, Bowing of lim... OMIM:259440
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... OMIM:607706
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... ORPHA:90650
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Delayed CNS myelination, Global brain atrophy, Subependymal cysts, Cerebellar atrophy, ... OMIM:616811
Rothmund-Thomson Syndrome
Carious teeth, Abnormal dental enamel morphology, Sparse eyebrow, Hypoplasia of teeth, Neutropeni... ORPHA:2909
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Reticulocytosis, Cerebral atrophy, Ataxia, Irritability, Cognitive impairment, ... OMIM:612126
Lissencephaly 3
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Polymicrogyria, Spastic ... OMIM:611603
Hypocalcemic Vitamin D-Resistant Rickets
Genu valgum, Osteolysis, Bone cyst, Recurrent fractures, Bone pain, Coarse metaphyseal trabecular... ORPHA:93160
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media OMIM:615615
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Difficulty walking, Hypoplasia of the corpus callosum, Lower limb spasticity, Spast... ORPHA:401815
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Chorea, Hypertonia, Cerebral ... OMIM:610217
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Craniosynostosis, Abnormality of hair ... ORPHA:667
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Frontotempo... OMIM:600795
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the metaphysis, Recurrent fractures, Splenomegaly ORPHA:417
Juvenile Paget Disease
Osteoporosis, Bowing of the long bones, Recurrent fractures, Coarse metaphyseal trabecularization... ORPHA:2801
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Hearing impairment, Craniosynostosis, Increased bone mineral density ORPHA:178377
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Subperiosteal bone resorption, Metaphyseal irregularity, Sparse bone trabecula... OMIM:264700
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Cerebral atrophy, Poor fine motor co... ORPHA:98762
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Short stature, Dental ... OMIM:259730
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Osteogenesis Imperfecta, Type Ii
Broad long bones, Absent ossification of calvaria, Recurrent fractures, Tibial bowing, Crumpled l... OMIM:166210
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Neutro... ORPHA:221008
Pseudoachondroplasia
Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finger, Flat ace... ORPHA:750
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Bowing of the long bones, Bone pain, Increased susceptibility to fractures, Fractures... OMIM:602080
Trigeminal Neuralgia
Episodic paroxysmal anxiety, Paresthesia, Depression, Cranial nerve compression, Somatic sensory ... ORPHA:221091
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Narrow mouth, Femur fracture, Growth delay, Smooth philtrum, H... OMIM:619322
Pyle Disease
Limited elbow extension, Genu valgum, Delayed eruption of teeth, Carious teeth, Hypoplastic front... OMIM:265900
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Gait disturbance, Onion bulb formation, Distal sensory impairment, Decreased nerve c... OMIM:601455
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Subperiosteal bone resorption, Metaphyseal irregularity, Sparse bone trabecula... OMIM:277440
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Gliosis, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Ataxia, Cerebe... OMIM:256600
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Gliosis, Hypoplasia of the corpus callosum, Hypertonia, Axonal loss, Cerebral atrophy... OMIM:252160
Mycetoma
Osteoporosis, Bone cyst, Painless fractures due to injury, Pathologic fracture, Abnormal appendic... ORPHA:2583
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Dementia, Ventriculomegaly, Ataxia, Emotional lability, Brain atrophy, Broad-based gait OMIM:206570
Achondrogenesis Type 1A
Abnormal enchondral ossification, Recurrent fractures, Short foot, Short palm, Micromelia ORPHA:93299
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Bruck Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Bowing of the long bones, Recurrent fractures, ... ORPHA:2771
Greenberg Dysplasia
Abnormal bone ossification, Severe short-limb dwarfism, Rhizomelia, Anterior rib punctate calcifi... ORPHA:1426
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Head tremor, Torticollis, Hyposmia, Abnormal motor neuron mor... OMIM:613724
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Dystonia, Rigidity, Spastic paraparesi... OMIM:608804
Acrodysostosis
Open bite, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognat... ORPHA:950
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Gliosis, Ataxia, Wide nasal bridge, Peripheral demyelination, CNS demyelination, Antevert... OMIM:220111
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Bowing of the long bones, Recurrent fractures, Generalized ost... OMIM:617952
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Abnormal diaphysis morphology, Thin bony ... ORPHA:85184
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Synostosis of joints, Re... ORPHA:321
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Dystonia, Basal ganglia gliosis, Basal ganglia cysts, ... ORPHA:79243
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Delayed myelination, Aggressive behavior, Spasticity, Decreased response to growth hormone stimua... OMIM:615286
Variant Abeta2M Amyloidosis
Wrist pain, Multiple bony cystic lesions, Knee pain, Pathologic fracture, Arthralgia of the hip ORPHA:314652
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic paraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Peripheral hy... OMIM:609136
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Increased bone mineral density, Microdontia, Widely spaced... OMIM:190320
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Anemia, Splenomegaly OMIM:618107
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Delayed myelination, Cerebral atrophy, Limb hypertonia, Dilation of lateral v... OMIM:617296
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Polymicrogyria With Optic Nerve Hypoplasia
Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, ... ORPHA:250972
Melnick-Needles Syndrome
Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long bones, Abnormal cortical bo... ORPHA:2484
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Neurodegeneration, Tetraparesis, Ataxia, Head titubation, A... OMIM:615491
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia, Falls, Clonus, Tongue fasciculations, Axonal degeneration OMIM:618811
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Recurrent fractures, Coxa vara, Bowing of the legs, Bowing of ... OMIM:619131
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, S... OMIM:218000
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Rickets, Bone pain, Tibial bowing, Osteomalacia, Increased suscept... ORPHA:289157
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Dislocated radial head, Limited elbow extension, Joint laxity, Abnormality of epip... ORPHA:93359
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Growth delay, Osteopetrosis, Hepatomegaly, D... OMIM:612301
Cln5 Disease
Atrophy/Degeneration affecting the central nervous system, Dysdiadochokinesis, Inability to walk,... ORPHA:228360
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Delayed myelination, Akinetic mutism, Cerebral white matter atrophy, Pachygyria, Abnormal caudate... ORPHA:2148
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Short ... OMIM:215045
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Decreased proportion of memory ... OMIM:615897
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... OMIM:615376
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Recurrent fractures... OMIM:300009
Hypophosphatasia, Infantile
Craniosynostosis, Stillbirth, Decreased calvarial ossification, Metaphyseal cupping, Bowing of th... OMIM:241500
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
12q14 microdeletion syndrome
Proportionate short stature, Osteopoikilosis DECIPHER:76
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Osteolysis, Pathologic fracture, Increased susceptibility to... ORPHA:52430
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, D... OMIM:231095
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... OMIM:616948
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures, Femoral bowing OMIM:126550
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Large earlobe, Mandibul... ORPHA:2769
Immunodeficiency 8
Lymphopenia OMIM:615401
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Wide anterior fontanel, Decreased calvarial ossification, Recurrent fracture... OMIM:259420
Hypophosphatasia
Craniosynostosis, Bowing of the long bones, Recurrent fractures, Anemia, Abnormality of the metap... ORPHA:436
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Acute myelomonocytic leukemia, Abnormal cerebral white matte... OMIM:159550
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Delayed myelination, Aggressive behavior, Abnormal periventricular white matter morpholog... ORPHA:572798
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Dystonia, Lethargy, Basal ganglia cysts, Anteverted nares, Ventriculomegaly, Cer... OMIM:312170
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, Conductive... ORPHA:3238
Marshall-Smith Syndrome
Accelerated skeletal maturation, Craniosynostosis, Joint hyperflexibility, Bowing of the long bon... ORPHA:561
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Aplasia/Hypoplasia of the eyebrow, Craniofacial ... ORPHA:1133
Cerebrotendinous Xanthomatosis
Personality disorder, Dystonia, Gliosis, Global brain atrophy, Palatal myoclonus, Abnormality of ... ORPHA:909
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Impaired social interactions, Reduced sperm moti... ORPHA:330015
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Increased circulating antibody level, Growth delay, Biliary tract obstruct... ORPHA:77259
Posterior Column Ataxia With Retinitis Pigmentosa
Positive Romberg sign, Sensory ataxia, Decreased sensory nerve conduction velocity, Peripheral de... OMIM:609033
Immunodeficiency 40
Lymphopenia OMIM:616433
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Posteriorl... OMIM:273050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Disinhibition, Apathy, Frontotemporal dementia, Abnormal lower motor neuron morphology, Amyotroph... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Disinhibition, Apathy, Frontotemporal dementia, Abnormal lower motor neuron morphology, Amyotroph... OMIM:616437
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, C... ORPHA:464282
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Delayed CNS myelination, Hypertonia, Chronic neutropenia, ... OMIM:619302
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Chorea, Eyelid myoclonus, Self-injurious behavior... ORPHA:178469
Immunodeficiency 19
Lymphopenia, Recurrent otitis media, Failure to thrive OMIM:615617
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Micrognathia, Overfolding of the superio... ORPHA:313855
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Narrow mouth, Generalized osteoporosis, Short stature, H... OMIM:613849
Polyrrhinia
Supernumerary naris, Abnormal third ventricle morphology, Abnormality of the nasal bone, Dilation... ORPHA:141091
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synost... ORPHA:221016
Odontochondrodysplasia 1
Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epip... OMIM:184260
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Hepatic steatosis, Hypertriglycerid... OMIM:615703
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Chorea, Basal ganglia calcification, Parkinsonism, Anxiety, Cogniti... OMIM:615483
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture, Multiple enchondromatosis OMIM:614569
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Dislocated radial head, Thin vermilion border, Long philtrum, ... OMIM:614856
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Paroxysmal dystonia, Dementia, Speech apraxia, Diffi... ORPHA:79244
Roifman Syndrome
Downturned corners of mouth, Prominent eyelashes, Postnatal growth retardation, Lymphadenopathy, ... ORPHA:353298
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal pelvis bone morphology, Bone pain, Tibial bowing, Fibro... ORPHA:352540
Parkinson Disease 8, Autosomal Dominant
Dementia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradyk... OMIM:607060
Narp Syndrome
Dementia, Progressive gait ataxia, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Irritabil... ORPHA:644
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Depression, Chorea, Ataxia, Cerebellar atrophy, Irritability, Anxi... OMIM:618093
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Ventriculomegaly, Neuronal loss in the cerebral cortex, Diffuse demyelinatio... ORPHA:168486
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Abetalipoproteinemia
Acanthocytosis, CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Delayed myelination, Aggressive behavior, Depression, Upper limb spas... ORPHA:485350
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Ventriculomegaly, Cerebral cortical atrophy, Myoclonus, Microcephaly, Optic atrophy, Ag... OMIM:617669
Pycnodysostosis
Osteolysis, Abnormality of epiphysis morphology, Recurrent fractures, Bone pain, Short distal pha... ORPHA:763
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Thin vermilion border, Disproportionate short stature, Joint laxity, Metaph... OMIM:602557
Maffucci Syndrome
Osteolysis, Recurrent fractures, Bone pain, Multiple enchondromatosis ORPHA:163634
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Gait disturbance, Ataxia, Abnormal sensory nerve conduction v... ORPHA:88628
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, Spastic diplegia, Ataxia, Lower limb spasticity, Irritability,... OMIM:615281
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Bone pain, Reduced bone mineral density, Osteomalacia, Bowing of the le... ORPHA:157215
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Carious teeth, Amelogenesis imperfecta, Disproportionate short stature, Microretrogn... OMIM:618363
Amyotrophy, Hereditary Neuralgic
Long nasal bridge, Axonal degeneration, Peripheral axonal degeneration, Depressed nasal bridge OMIM:162100
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Gliosis, Hypoplasia of the corpus callosum, Neurodegeneration, Cereb... OMIM:616239
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Joint laxity, Coxa vara, Increased susceptibility to fractures, Osteopenia OMIM:610968
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Chorea, Abnormal cerebral white matter morphology, Cerebral atrophy,... OMIM:618321
Pachydermoperiostosis
Osteoporosis, Osteolysis, Abnormality of epiphysis morphology, Bone pain, Abnormal cortical bone ... ORPHA:2796
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Cortical dysplasia, S... OMIM:608716
Masa Syndrome
Spastic paraplegia, Gait disturbance, Ventriculomegaly, Hemiplegia/hemiparesis, Agenesis of corpu... ORPHA:2466
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Hypercholesterolemia, Abnormality of the mouth, Everted lower lip verm... ORPHA:181393
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Aggressive behavior, Delayed CNS myeli... OMIM:607454
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Finger clinodactyly, Abnormal hair quantity, Periapical tooth ab... ORPHA:3352
Young-Onset Parkinson Disease
Dystonia, Tremor, Rigidity, Dementia, Depression, Apathy, Bradykinesia, Panic attack, Hyposmia, I... ORPHA:2828
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Dysosteosclerosis
Craniofacial hyperostosis, Recurrent fractures, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Hip dysplasia, Cryptorchidism, Narrow palate, Abnormal palate morphology, Tooth agenesis, Posteri... ORPHA:2063
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandibular progn... OMIM:101800
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Hemiparesis, Unilateral polymicrogyria, Frontopari... OMIM:610031
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Choreoacanthocytosis
Hair-pulling, Hypertonia, Head titubation, Emotional lability, Head-banging, Cerebral cortical at... ORPHA:2388
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Mixed demyelinating and axonal polyneuropathy, Paresthesia, Impaired vib... ORPHA:101085
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Apathy, Chorea, Cerebral atrophy, Neurodegeneration, Hypertonia, Abnormal pyr... OMIM:272750
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Facial hyperostosis, Calvarial hyperostosis OMIM:176920
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Inappropriate crying, Delayed myelination, Hypoplasia of the corpus callosum, Hypertonia, Spastic... ORPHA:284417
Foxg1 Syndrome
Inability to walk, Dystonia, Delayed myelination, Inappropriate crying, Pachygyria, Difficulty wa... ORPHA:561854
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Depression, Difficulty walkin... ORPHA:98764
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Thin vermilion border, Narrow mouth, Dental crowding, Absent eyebrow, Wei... ORPHA:740
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu valgum, Metaphyseal irregularity, Recurrent fractures, Coxa vara, Micromelia ORPHA:93315
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Rigidity, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Brai... ORPHA:442835
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia ORPHA:2772
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Facial diplegia, Spastic paraparesis, Difficulty walking, Hypoplasia of the co... ORPHA:254930
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Rigidity, Cerebellar Purkinje layer atrophy, C... ORPHA:98759
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Gapo Syndrome
Joint hypermobility, Sparse eyebrow, Wide anterior fontanel, Thick lower lip vermilion, Sparse ha... OMIM:230740
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures, Bone pain ORPHA:85193
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Gliosis, Hypoplasia of the corpus callosum, Axonal loss, Cerebral atrophy, Spastic te... OMIM:252150
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Myoclonus, Hyperactivity, Agenesis of c... OMIM:605899
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Hyperactivity, Tetraplegia, Microcephaly, Optic atrophy, ... OMIM:274270
Camurati-Engelmann Disease
Carious teeth, Abnormality of tibia morphology, Hyperostosis, Delayed puberty, Anemia, Leukopenia... ORPHA:1328
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops, Distal sensory i... OMIM:601382
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Agyria, Agenesis of corpus callosum, Lissencephaly, Spasticity OMIM:300067
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Poems Syndrome
Clubbing of fingers, Metaphyseal sclerosis, Thrombocytosis, Sclerosis of hand bone, Erectile dysf... ORPHA:2905
Gapo Syndrome
Mandibular prognathia, Abnormality of the metaphysis, Micrognathia, Long philtrum, Joint hyperfle... ORPHA:2067
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Posteriorly rotated ears, Micrognathia, Osteopetrosis OMIM:617306
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Shwachman-Diamond Syndrome
Carious teeth, Metaphyseal irregularity, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia... ORPHA:811
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Dysosteosclerosis
Sclerosis of hand bone, Progressive bowing of long bones, Short diaphyses, Short sternum, Narrow ... OMIM:224300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Frontotemporal dementia, Ataxia, Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Parkin... OMIM:615911
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss, Hepatomegaly, Abnorm... ORPHA:100024
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Adrenomyeloneuropathy
Progressive spastic paraparesis, Dysesthesia, Atrophy/Degeneration involving the corticospinal tr... ORPHA:139399
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Camptodactyly of finger, Dislocated radial head, Delayed eruption of te... OMIM:612350
Glutamine Deficiency, Congenital
Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, Brain atrophy, Subependymal cys... OMIM:610015
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Disinhibition, Dementia, Depression, Intention ... OMIM:300623
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Aplasia of the 1st metacarpal, Dental crowding, Micrognathia, 2-3 toe syndactyly, ... ORPHA:476126
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Dementia, Megaloblastic anemia, Cerebral atrophy, Atrophy of the spinal cord, Poor fine... ORPHA:79282
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Dementia, Impaired vibration sensation at ank... OMIM:300100
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Congenital hip dislocation, Flexion contracture, Multiple prenatal fractures,... OMIM:271225
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Amenorrhea, Lymphopenia, Neutropenia, Im... OMIM:604250
Geroderma Osteodysplasticum
Osteoporosis, Camptodactyly, Recurrent fractures, Tibial bowing, Increased susceptibility to frac... OMIM:231070
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Hypertonia, Toe walking, Upper motor neuron dysfunction, Mixed demyelina... ORPHA:466768
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss, Distal sensory impairment, Steppage gait OMIM:614455
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Myoclonus, Mental deterioration, Atte... OMIM:619191
48,Xxyy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Broad jaw, Decreased... ORPHA:10
Diastrophic Dysplasia
Costal cartilage calcification, Talipes equinovarus, Hypoplastic cervical vertebrae, Neonatal sho... OMIM:222600
Masa Syndrome
Spastic paraplegia, Agenesis of corpus callosum, Ventriculomegaly, Lower limb spasticity, Microce... OMIM:303350
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Pituitary hypothyroidism, Delayed puberty, Osteoporosis, De... ORPHA:91348
Peho Syndrome
Peripheral dysmyelination, Pachygyria, Short nose, Hypoplasia of the corpus callosum, Cerebellar ... OMIM:260565
Tangier Disease
Impaired pain sensation, Impaired temperature sensation, Splenomegaly, Peripheral axonal neuropat... OMIM:205400
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Delayed myelination, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Cerebral atrophy... ORPHA:397951
Glutaric Acidemia I
Dystonia, Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, Spasti... OMIM:231670
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Leukocytosis, Bone pain, Neut... ORPHA:98850
Cleidocranial Dysplasia
Open bite, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality o... ORPHA:1452
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Narrow palate, Leukonychia, Ivory epiphyses of the distal phalan... OMIM:190350
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Cone-shaped epiphysis, Sensorineural hea... ORPHA:71267
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Spastic diplegia, Emotional lability, Torticollis, Spasticity, S... ORPHA:300570
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Inability to walk, Abnormal myelination, Babinski sign, Abnormality of periph... ORPHA:431329
3-Methylglutaconic Aciduria, Type I
Self-mutilation, Dystonia, Dementia, Abnormal cerebral white matter morphology, Cerebral atrophy,... OMIM:250950
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Increased T3/T4 ratio, Growt... OMIM:614450
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture OMIM:307030
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Leukodystrophy, Decreased motor nerve conduction velocity, Cerebral white matt... OMIM:610532
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Abnormal bone ossification, Hemiatrophy of ... ORPHA:163649
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Pseudohypoparathyro... OMIM:103580
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Depression, Head trem... OMIM:609307
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Positive Romberg sign, Decreased motor nerve conduction velocity, Vocal cord paresis, Anosmia, Di... OMIM:601152
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Mul... ORPHA:488627
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Decreased number of peripheral myelinated nerve fibe... OMIM:256850
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Carpenter Syndrome 1
Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductu... OMIM:201000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Broad thumb, Lymphopenia, Growth delay, Neutro... OMIM:612541
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Bone pain, Normocytic a... ORPHA:98849
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Low-set, posteriorly rotated ears, Deep philtrum, Increased ... ORPHA:1237
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Abnormal hand morphology... ORPHA:371428
Metaphyseal Chondrodysplasia, Jansen Type
Clubbing of fingers, Metaphyseal chondrodysplasia, Bowing of the long bones, Metaphyseal cupping,... OMIM:156400
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia, Stillbirth OMIM:183300
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Increased bone mineral de... ORPHA:93284
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Pseudohypoparathyro... OMIM:612462
Pseudopseudohypoparathyroidism
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short metatarsal, Pseudohypoparathyro... OMIM:612463
Osteogenesis Imperfecta, Type I
Joint hypermobility, Recurrent fractures, Increased susceptibility to fractures, Osteopenia, Femo... OMIM:166200
Geroderma Osteodysplastica
Osteoporosis, Abnormal bone ossification, Abnormality of epiphysis morphology, Joint hyperflexibi... ORPHA:2078
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Dementia, Depression, Apathy, Gait disturbance, Bradyphrenia, Recurrent subcortical i... ORPHA:136
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis, Short finger, Abnormality of the pinna, Tapered finger, ... OMIM:610680
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Oral ulcer, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Gingivitis, Recurrent... ORPHA:486
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, B... ORPHA:289176
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Thickened helices, High palate,... OMIM:616809
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Sensorineura... ORPHA:89936
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Spastic paraparesis, Hypoplasia of the corpus callos... ORPHA:320375
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wide anterior fontanel, Joint laxity, Recurrent fractures, Tibial bowing, Slender ... OMIM:610915
Stuve-Wiedemann Syndrome
Osteoporosis, Contracture of the proximal interphalangeal joint of the 5th finger, Short phalanx ... OMIM:601559
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Bowing of the long bones, Recurrent fractures, Increased bone mineral de... OMIM:239000
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Camptodactyly, Failure to thrive in infancy, Postnatal growth retardation, Anemia... OMIM:611209
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Pseudohypoparathyroidism Type 1C