Gene Summary

Name:
acid phosphatase 2, lysosomal
Synonyms:
LAP,  Acp-2

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone mineralization Acp2tm1a(EUCOMM)Wtsi HOM Early adult 1.18×10-06
abnormal behavior Acp2tm1a(EUCOMM)Wtsi HOM Early adult 5.06×10-05
decreased CD8-positive, alpha-beta T cell number Acp2tm1a(EUCOMM)Wtsi HOM Early adult 1.26×10-07
decreased CD4-positive, alpha-beta T cell number Acp2tm1a(EUCOMM)Wtsi HOM Early adult 1.80×10-05
decreased T cell number Acp2tm1a(EUCOMM)Wtsi HOM Early adult 9.34×10-08
abnormal bone structure Acp2tm1a(EUCOMM)Wtsi HOM Early adult 8.25×10-06
increased B cell number Acp2tm1a(EUCOMM)Wtsi HOM Early adult 5.80×10-06
decreased bone mineral density Acp2tm1a(EUCOMM)Wtsi HOM Early adult 9.84×10-07
decreased erythrocyte cell number Acp2tm1a(EUCOMM)Wtsi HOM Early adult 4.23×10-06
increased bone mineral content Acp2tm1a(EUCOMM)Wtsi HOM Early adult 1.57×10-09
decreased hemoglobin content Acp2tm1a(EUCOMM)Wtsi HOM Early adult 1.80×10-08

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Viewing: all phenotypes

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 Acp2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Acp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Intellectual Developmental Disorder, X-Linked 82
Seizure, Scoliosis, Kyphosis OMIM:300518
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h... ORPHA:2790
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Anemia, Craniofacial hyperostosis, Abnormal form of the verteb... ORPHA:1802
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Plat... OMIM:616583
Isolated Glycerol Kinase Deficiency
Seizure, Scoliosis, Hyperlordosis, Osteoporosis ORPHA:408
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Decreased hip abduction, Irregular ... OMIM:609223
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Gnathodiaphyseal Dysplasia
Osteopenia, Scoliosis, Thickened cortex of long bones, Mandibular osteomyelitis, Recurrent fractures ORPHA:53697
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim... ORPHA:98769
Flynn-Aird Syndrome
Kyphoscoliosis, Increased bone mineral density, Seizure, Osteoporosis, Joint stiffness, Increased... OMIM:136300
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Congenital foot contractures, Scoliosis, Hip contracture, Knee flexion contracture, Arthrogryposi... OMIM:602484
Myosclerosis, Autosomal Recessive
Spinal rigidity, Thoracolumbar scoliosis, Achilles tendon contracture, Neck joint contracture, Lu... OMIM:255600
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gliosis, Gait ataxia,... OMIM:213200
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Joint hypermobility, Thoracolumbar kyphosis OMIM:236660
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Scoliosis, Reduced bone mineral density, Bilateral tonic-clonic seizure OMIM:620200
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Atlantoaxial dislocation, Jo... OMIM:600561
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Spastic tetraparesis, Cerebellar atrophy, Gait disturbance, Short stature, Dystonia OMIM:620515
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck OMIM:300718
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal intervertebral disk morphology, Abnormal form of the ... ORPHA:2635
Horizontal Gaze Palsy With Progressive Scoliosis
Seizure, Short neck, Scoliosis, Kyphosis ORPHA:2744
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Elbow flexion contracture, Kyphosis, Hip contracture, Knee flexion cont... OMIM:600175
Hypochondroplasia
Limited elbow extension, Craniosynostosis, Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Gait dis... ORPHA:363710
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Hip contracture, Ankle con... OMIM:620386
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Scoliosis, Bilateral tonic-clonic seizure, Action myoclonus, Myocl... OMIM:616540
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Ck Syndrome
Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Seizure, Kyphosis, Joint hypermobility OMIM:300831
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... OMIM:615268
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Intervertebral space narrowing, Scoli... OMIM:271530
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density, Scoliosis, Hyperlordosis ORPHA:2501
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Spastic Paraplegia 18B, Autosomal Recessive
Seizure, Scoliosis, Joint contracture, Kyphosis OMIM:611225
Developmental And Epileptic Encephalopathy 59
Scoliosis, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure,... OMIM:617904
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Familial Anetoderma
Lumbar hyperlordosis, Generalized joint hypermobility ORPHA:228277
Mucolipidosis Type Iii
Reduced bone mineral density, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, H... ORPHA:577
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Short stature, Ataxia, Clumsiness,... OMIM:608029
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Hyperlordosis, Seizure, Kyphosis OMIM:617404
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis OMIM:300844
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Hyperlordosis, Foot acroosteolys... ORPHA:970
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Abnormal vertebral morphology, Generalized bone demineralization, Vert... ORPHA:93352
Hyperekplexia 4
Kyphoscoliosis, Seizure, Infantile spasms, Camptodactyly, Flexion contracture, Distal arthrogrypo... OMIM:618011
Dental Anomalies And Short Stature
Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Platyspondyl... OMIM:601216
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Rigid Spine Syndrome
Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion contracture, Hamstring contractures, Hip... ORPHA:97244
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Seizure, Hypoplasia of the odontoid process OMIM:612913
Proteus Syndrome
Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Facial hy... OMIM:176920
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Hemolytic-uremic syndrome, Seizure, Osteoporosis, Thrombocytopenia, Joint hypermo... OMIM:614727
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Abnormal vertebral morphology, Hamstring contractures, Elbow ankylosis, Short neck ORPHA:96183
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Scoliosis, Platyspondyly, Thin bony cortex OMIM:265900
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Seizure, Joint contracture, Focal tonic seizure OMIM:617977
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Kyphosis OMIM:277950
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Joint stiffness, Irregular ... OMIM:604864
Dysspondyloenchondromatosis
Kyphoscoliosis, Scoliosis, Vertebral segmentation defect, Anisospondyly, Osteoarthritis, Platyspo... ORPHA:85198
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral compression fracture, Joint hypermobility, Delayed epiphyseal ossification, Scoliosis, ... OMIM:602557
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Cerebellar atrophy, Inability to walk OMIM:619333
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Scoliosis, Bilateral tonic... OMIM:614018
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Lumbar scoliosis, Platyspondyly, Irregular vertebral endplates OMIM:612847
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Limb dystonia, Obesity, Ataxia, Intrauterine growth retardation, Cerebellar hypoplasia OMIM:620270
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Congenital foot contraction deformities, Hyperlordosis, Flexion contracture ORPHA:363454
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Caffey Disease
Scoliosis, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregula... ORPHA:1310
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Lumbar hyperlordosis ORPHA:280333
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Hip contracture, Lumbar hyperlordosis OMIM:619042
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
Greenberg Dysplasia
Abnormal bone ossification, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificat... ORPHA:1426
Diastrophic Dysplasia
Kyphoscoliosis, Scoliosis, Hip contracture, Costal cartilage calcification, Cervical kyphosis, Hy... OMIM:222600
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri... ORPHA:2114
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Gómez-López-Hernández Syndrome
Alopecia of scalp, Toenail dysplasia, Cerebellar vermis hypoplasia, Impaired pain sensation, Hydr... ORPHA:1532
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Epiphyseal stippling, Seizure, Calcific stippling of infantile cartilaginous skel... OMIM:215100
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis, Joint contracture of the hand OMIM:611067
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Arthritis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Pla... OMIM:184100
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Gait disturbance, Head tremor, L... OMIM:614860
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Biconcave vertebral bodies... ORPHA:93284
Congenital Myopathy 16
Scoliosis, Spinal rigidity, Flexion contracture, Lumbar hyperlordosis OMIM:618524
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Hyperlordosis, Decreased mitochondrial number ORPHA:352470
Immunodeficiency 48
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... OMIM:269840
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint hypermobility, Scoliosis, Delayed ossification of carpal bones, Narrow vertebral interpedic... OMIM:618395
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Epileptic spasm, Myoclonic status epilepticus, Focal tonic seizure, Bilateral ton... OMIM:617105
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis, Seizure OMIM:301107
Nemaline Myopathy 7
Kyphoscoliosis, Lumbar hyperlordosis, Knee flexion contracture OMIM:610687
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai... OMIM:616948
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypertonia, Hypopigmentation of hair, Spasticity, Tremor, Rigidity, At... ORPHA:33445
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Joint hypermobility, Osteopenia ORPHA:300179
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Limited shoulder movement, Hyperlordosis, Thoracic scoliosis ORPHA:62
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, Thoracolumbar scoliosis, Lumbar hyperlordosis OMIM:610313
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Seizure, Flexion contracture OMIM:607855
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Advanced ossification of carpal bones, Platyspondyly OMIM:617719
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Seizure, Flexion contracture OMIM:618006
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Knee flexion contracture ORPHA:496689
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Generalized myoclonic seizure, Seizure, Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Yoon-Bellen Neurodevelopmental Syndrome
Scoliosis, Infantile spasms, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoc... OMIM:619701
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... ORPHA:189
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru... OMIM:224050
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Scoliosis, Bilateral tonic-clonic se... ORPHA:330050
Pseudoprogeria Syndrome
Absent eyelashes, Decreased body weight, Absent eyebrow, Growth delay, Short stature, Sparse eyeb... ORPHA:2985
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Scoliosis, Bilateral tonic-clonic seizure OMIM:617082
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Generalized osteoporosis, Mucopolysacchariduria, Atlantoaxial instability, Platys... OMIM:184095
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:611302
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Restricted large joint movement, Abnormal vertebral morphology ORPHA:163665
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h... OMIM:618849
Thumb Deformity And Alopecia
Short stature, Alopecia OMIM:188150
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality ORPHA:3433
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Hippocampal sclerosis, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visu... OMIM:615400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Failure to thrive, Ataxia, Sparse hair, Intrauterine growth retardation, Cerebell... OMIM:616353
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Seizure, Sclerotic vertebral endplates OMIM:615198
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parki... OMIM:618093
Moynahan Syndrome
Cachexia, Hyperkeratosis, Short stature, Sparse hair, Alopecia ORPHA:2574
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Osteoporosis, Joint stiffness, Camptodactyly of fi... OMIM:208230
Congenital Myopathy 23
Kyphoscoliosis, Flexion contracture OMIM:609285
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Weismann-Netter Syndrome
Abnormal cortical bone morphology, Anemia, Abnormal form of the vertebral bodies, Scoliosis, Kyph... ORPHA:3344
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Butterfly vertebrae, Delayed pubic bone ossification, Scoliosis, Thoracic kyphosc... OMIM:613330
Ck Syndrome
Kyphoscoliosis, Joint hypermobility, Seizure, Lumbar hyperlordosis ORPHA:251383
Hypochondroplasia
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Spinal canal stenosis, Osteoarth... ORPHA:429
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... ORPHA:521406
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anauxetic Dysplasia 2
Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Ovoid vertebral bodies, ... OMIM:617396
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Ankle flexion contracture, Hyperlordosis, Elbow flexion contracture, Wrist flexi... ORPHA:267
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata... OMIM:615362
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Kyphoscoliosis, Localized osteoporosis, Bilateral tonic-clonic seizure, Back pain, Cervical spond... ORPHA:199354
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Biconca... OMIM:610968
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Generalized bone demineralization, Vertebral wedging... ORPHA:3101
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Impaired proprioception, Difficulty walking, Oculomotor apraxia, Lower limb spastici... ORPHA:412057
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Ankle flexion contracture, Wrist flexion contracture OMIM:616668
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis, Hip contracture, Achilles tendon contracture, Knee flexion co... OMIM:615290
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ... ORPHA:453521
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex, Osteopenia ORPHA:85184
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip contracture, Scle... OMIM:313420
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Short stature, Rigidity, Dystonia, Ataxia OMIM:617836
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... ORPHA:423275
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Osteogenesis Imperfecta, Type V
Osteopenia, Vertebral wedging, Hyperextensibility of the finger joints, Hyperextensibility at elb... OMIM:610967
Foxg1 Syndrome
Kyphoscoliosis, Focal-onset seizure, Scoliosis, Infantile spasms, Bilateral tonic-clonic seizure,... ORPHA:561854
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte... OMIM:613728
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Pseudoachondroplasia
Beaking of vertebral bodies, Limited elbow extension, Abnormal form of the vertebral bodies, Dela... ORPHA:750
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Severe short stature, Alopecia totalis OMIM:302000
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Knee osteoarthritis, Limitation of j... ORPHA:2619
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Scoliosis, Hyperlordosis, Hip contracture, Coronal cleft vertebrae, Irregular ver... OMIM:618363
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... OMIM:604432
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Kyphosis, Aniso... OMIM:156530
Progressive Pseudorheumatoid Arthropathy Of Childhood
Beaking of vertebral bodies, Hyperconvex vertebral body endplates, Vertebral wedging, Scoliosis, ... ORPHA:1159
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hall-Riggs Syndrome
Scoliosis, Seizure, Osteoporosis, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:234250
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Oliver-Mcfarlane Syndrome
Delayed puberty, Long eyebrows, Long eyelashes, Severe short stature, Sparse hair, Small for gest... OMIM:275400
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Vertebral wedging, Scoliosis, Elbow flexion contracture... OMIM:259450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Joint stiffness, Spinal rigidity, Flexion contracture, Lumbar hyperlordosis OMIM:609308
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Osteopenia, Limited elbow extension, Delayed ossification of carpal bones, Thorac... OMIM:271510
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Scoliosis, Myoclon... OMIM:619317
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the vertebral column,... ORPHA:99642
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Thoracic kyphosis, Thin bony cortex OMIM:619638
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Focal impaired awareness seizure OMIM:607341
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Growth delay, Ataxia, Sparse hair, Small for gestational age, Alopecia ORPHA:3363
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Limitation of joint mob... ORPHA:1486
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis, Limitation of joint mobility, Flexion contracture, Joint hypermob... ORPHA:157973
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic kyphosis, Elbow flexion contracture, Lumbar hyperlordosis, Thoracic scoliosis ORPHA:206546
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac... OMIM:300423
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly OMIM:617383
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... OMIM:610357
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility OMIM:618323
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Scoliosis, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure... ORPHA:293181
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme... OMIM:619028
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Anemia, Hyperlordosis, Limitation of joint mobility, Nephrotic ... ORPHA:1192
Osteogenesis Imperfecta, Type Ix
Scoliosis, Kyphosis, Multiple prenatal fractures, Decreased calvarial ossification, Platyspondyly... OMIM:259440
Seckel Syndrome 8
Kyphoscoliosis, Ectopic kidney OMIM:615807
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Scoliosis, Seizure, Infantile spasm... OMIM:619616
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia univers... ORPHA:1008
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Seizure OMIM:300886
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... OMIM:620453
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Action myoclonus, Myocl... OMIM:616230
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Reduced bone mineral density, Kyphosis OMIM:618392
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, Foot joint contracture, Shoulder flexion contracture, ... ORPHA:536516
Huntington Disease
Bradykinesia, Chorea, Gliosis, Cerebellar atrophy, Gait ataxia, Rigidity OMIM:143100
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... OMIM:615386
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Flexion contracture, Kyphosis OMIM:618237
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Kyphosis ORPHA:85288
Roussy-Lévy Syndrome
Kyphoscoliosis, Scoliosis, Urinary bladder sphincter dysfunction ORPHA:3115
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Positive Romberg sign, Gliosis, Cer... OMIM:607136
Brachyolmia Type 2
Platyspondyly OMIM:613678
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston... ORPHA:71517
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Seizure, Joint stiffness, Ovoid thor... OMIM:252930
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Multiple small vertebral fractures, Multiple prenatal fractures, Re... OMIM:619795
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Flexion contracture, Lumbar hyperlordosis OMIM:613723
Bethlem Myopathy 2
Distal joint hypermobility, Scoliosis, Flexion contracture, Kyphosis OMIM:616471
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Shoulder flexion contracture, Elbow flexion contracture, Camptodactyly, Knee flex... OMIM:277720
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Flexion contracture of finger, Flexion contracture, Arthrogr... OMIM:618484
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Anemia OMIM:618728
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce... ORPHA:512260
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Scoliosis, Laryngotracheomalacia, Delayed phalangeal epiphyseal ... OMIM:603546
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Lumbar hyperlordosis OMIM:613818
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebellar dentate... OMIM:213600
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:231095
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus OMIM:604213
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Generalized myoclonic seizure, Sea-blue histiocytosis, Platyspondyly... OMIM:230600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Platyspondyly, Delayed epiphyseal ossification, Scoliosis, Elbow flexion contract... ORPHA:93360
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Delayed pubic bone ossification, Scoliosis, Hyperlordosis, Hypoplasia of the odontoid process, Pl... OMIM:184250
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clums... OMIM:256731
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis, Achilles tendon contracture OMIM:620389
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Onychogryposis of fingernail, Severe short stature, Ridged fingernail, ... ORPHA:2251
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Gliosis, Gait disturban... OMIM:300957
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Pseudodiastrophic Dysplasia
Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform... OMIM:264180
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Idiopathic Juvenile Osteoporosis
Kyphosis, Osteoporosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Schneckenbecken Dysplasia
Narrow vertebral interpedicular distance, Ovoid vertebral bodies, Advanced tarsal ossification, P... OMIM:269250
Bruck Syndrome
Scoliosis, Osteoporosis, Kyphosis, Joint stiffness, Platyspondyly, Arthrogryposis multiplex conge... ORPHA:2771
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Short stature, Rigidity, Dystonia, At... OMIM:612438
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Gliosis, Elbow flexion contracture, Seizure, Camptodactyly, Osteoporosis, Flexion... OMIM:214150
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Action tremor, Growth del... OMIM:619738
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Scoliosis, Delayed ossification of carpal bones, Distal ulnar epiphy... OMIM:609616
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop... OMIM:617810
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Joint hypermobility, Ankle flexion contracture, Scoliosis, Hyperlordosis OMIM:617760
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity... OMIM:607346
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, Chorea,... ORPHA:248111
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Hump-shaped mound of bone in central... OMIM:313400
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Arthrogryposis multiplex congenita OMIM:162370
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Dystonia, Ataxia, Abnormal pyramidal sign, Cerebellar hypoplasia, A... ORPHA:453533
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,... ORPHA:251347
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Joint hypermobility, Flexion contracture OMIM:616470
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Splenomegaly, Decreased proporti... OMIM:615513
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis OMIM:180800
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Seizure, Kyphosis, Splenomegaly, Myoclonus, Plat... OMIM:230650
Warburg Micro Syndrome 1
Kyphoscoliosis, Joint hypermobility, Osteoporosis OMIM:600118
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging OMIM:255710
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Short stature, Patchy palmopla... ORPHA:317
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis, Stiff neck OMIM:618230
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis OMIM:607831
Morquio Syndrome C
Platyspondyly OMIM:252300
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Cerebellar vermis hypoplasia, Alopecia, Rhombencephalosynapsis, Short stature, Agenes... OMIM:601853
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gait imbalance, Spasticity, Gliosis, Cerebellar atrophy, Frequent falls, Gait ataxia... OMIM:618369
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Decreased skull ossification... ORPHA:666
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Antalgic... OMIM:620546
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis ORPHA:85174
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Candidiasis, Familial, 1
Alopecia OMIM:114580
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Scoliosis, Kyphosis OMIM:300434
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae OMIM:156510
Behr Syndrome
Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Progressive... OMIM:210000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Arthritis, In... OMIM:615559
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Coarse metaphyseal trabecularization, Coronal cleft vertebrae, Epiphy... ORPHA:1952
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Leukodystrophy, Hypomyelinating, 20
Babinski sign, Hypertonia, Torticollis, Hirsutism, Cerebellar atrophy, Dystonia, Spastic tetraplegia OMIM:619071
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Joint hypermobility, Keratan sulfate excre... OMIM:253000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Short stature, Intrauterine growth retardation, Cerebellar hypoplas... ORPHA:75389
Filippi Syndrome
Postnatal growth retardation, Cerebellar atrophy, Decreased body weight, Frontal hirsutism, Dysto... OMIM:272440
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Cartilage-Hair Hypoplasia
Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr... OMIM:250250
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Lumbar hyperlordosis ORPHA:156728
L-Ferritin Deficiency
Alopecia OMIM:615604
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed puberty, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Short stature, Dystonia, ... OMIM:607694
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
4H Leukodystrophy
Delayed puberty, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Cerebe... ORPHA:289494
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Platyspondyly, Camptodactyly of finger, Irregular vertebral endplates... OMIM:612350
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Abnormality of the ureter, Short ... ORPHA:2522
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Congenital Myopathy 2A, Typical, Autosomal Dominant
Scoliosis, Spinal rigidity, Hyperlordosis, Arthrogryposis multiplex congenita OMIM:161800
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Scoliosis, Seizure, Narrow vertebral interpedicular distance, Febrile seizure (within the age ran... OMIM:620073
Myasthenic Syndrome, Congenital, 14
Distal joint hypermobility, Scoliosis, Hyperlordosis, Knee flexion contracture OMIM:616228
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Scoliosis, Delayed ossification of carpal bones, Elbow flexion contracture, Hypop... OMIM:184252
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Pelizaeus-Merzbacher Disease
Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, Cerebellar vermis atro... OMIM:312080
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Joint stiffness, Scoliosis, Lumbar hyperlordosis OMIM:618167
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Sandhoff Disease
Seizure, Splenomegaly, Kyphosis ORPHA:796
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... OMIM:616204
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Hyperext... OMIM:231070
Joint Laxity, Short Stature, And Myopia
Kyphoscoliosis, Joint hypermobility, Cervical kyphosis OMIM:617662
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, Progressive spasticity, Cerebellar atrophy, Hirsutism, Head titubation, Dysto... ORPHA:527497
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Premature osteoarthritis, Hip osteoarthritis, Lumbar hyperlordosis OMIM:165800
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Short neck, Abnorm... ORPHA:1797
Atelosteogenesis, Type Ii
Increased intervertebral space, Scoliosis, Horizontal sacrum, Coronal cleft vertebrae, Platyspond... OMIM:256050
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Babinski sign, Hypertonia, Lower limb spasticity, Cerebellar vermis atrophy, Spasti... OMIM:614877
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Scholte Syndrome
Kyphoscoliosis, Micropenis OMIM:300977
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Homocystinuria, Scoliosis, Seizure, Limitation of joint mobility, Osteoporosis, G... OMIM:236200
King-Denborough Syndrome
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Joint hypermobility, Short neck, Lumbar hyperlordosis OMIM:619542
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Abnormal vertebral morphology, Increased vertebral height, Seizure, Hyperlordosis... OMIM:616817
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral... OMIM:614856
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, P... OMIM:129500
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Seizure, Lumbar hyperlordosis, Vertebral... ORPHA:313892
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, Myoclonic spasms, D... ORPHA:79263
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Paget disease of bone, Lumbar hyperlordosis OMIM:167320
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis OMIM:615761
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia OMIM:620174
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Bilateral tonic-clonic seizure ORPHA:369840
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Urinary incontinence, Myoclonus OMIM:600795
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Leukodystrophy, Hypomyelinating, 3
Kyphoscoliosis, Seizure, Joint contracture OMIM:260600
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Osteoporosis, Platyspondyly, Recurrent fractures OMIM:126550
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint hypermobility, Astrocytosis, Nephrocalcinosis, Seizure OMIM:611087
Cdkl5-Deficiency Disorder
Focal-onset seizure, Scoliosis, Infantile spasms, Kyphosis, Generalized tonic seizure ORPHA:505652
Weismann-Netter Syndrome
Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyphosis OMIM:112350
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Capitate-hamate fusio... OMIM:271650
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... ORPHA:208513
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... OMIM:600224
Beta-Thalassemia
Reduced bone mineral density, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microc... ORPHA:848
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Platyspondyly, Cervical instability, Delayed ossification of carpal bones, Seizur... OMIM:617425
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Shoulder flexion contracture, Scoliosis, Wrist flexio... OMIM:255800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... ORPHA:352403
Cutis Laxa, Autosomal Recessive, Type Iie
Scoliosis, Ovoid vertebral bodies, Joint hypermobility, Craniosynostosis, Lumbar hyperlordosis OMIM:619451
Usmani-Riazuddin Syndrome, Autosomal Dominant
Seizure, Thoracic kyphosis, Lumbar hyperlordosis OMIM:619467
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphol... ORPHA:101070
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis, Organic aciduria OMIM:614707
Intermediate Osteopetrosis
Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f... ORPHA:210110
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome