Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Acp2 MGI:87882

Gene Summary

Name:

acid phosphatase 2, lysosomal

Synonyms:

LAP, Acp-2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased B cell number	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.80×10^-06
decreased bone mineral density	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.84×10^-07
increased bone mineral content	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.57×10^-09
decreased CD8-positive, alpha-beta T cell number	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.26×10^-07
decreased erythrocyte cell number	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.23×10^-06
decreased hemoglobin content	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.80×10^-08
abnormal behavior	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.06×10^-05
decreased T cell number	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.34×10^-08
abnormal bone structure	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.25×10^-06
decreased CD4-positive, alpha-beta T cell number	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.80×10^-05
abnormal bone mineralization	Acp2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.18×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

Human diseases associated with Acp2 (0 diseases)
Human diseases predicted to be associated with Acp2 (2081 diseases)

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	Matching phenotypes	Source
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Seizure, Scoliosis	OMIM:300518
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Isolated Glycerol Kinase Deficiency	Hyperlordosis, Cryptorchidism, Osteoporosis, Seizure, Scoliosis	ORPHA:408
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of...	ORPHA:2790
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical...	ORPHA:1802
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr...	OMIM:616583
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Trem...	OMIM:610185
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Irregular vertebral endplates, Platyspondyly, Thor...	OMIM:609223
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones	ORPHA:53697
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre...	ORPHA:284332
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Seizure, Increased...	OMIM:136300
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc...	OMIM:602484
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi...	OMIM:616291
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ...	OMIM:255600
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria...	OMIM:213200
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure, Scoliosis, Reduced bone mineral density	OMIM:620200
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis	OMIM:236660
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst...	OMIM:600561
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral...	OMIM:271530
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Seizure, Scoliosis, Short neck	ORPHA:2744
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Ck Syndrome	Hyperlordosis, Kyphosis, Seizure, Scoliosis, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat...	OMIM:619742
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Scoliosis, Generalized myoclonic s...	OMIM:616540
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa...	OMIM:617904
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca...	OMIM:615268
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Metaphyseal Chondrodysplasia, Spahr Type	Hyperlordosis, Scoliosis, Reduced bone mineral density	ORPHA:2501
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Scoliosis...	OMIM:620386
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Joint contracture, Seizure, Scoliosis	OMIM:611225
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis	OMIM:146720
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent...	OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies,...	ORPHA:577
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Kyphoscoliosis	OMIM:300844
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Seizure, Scoliosis	OMIM:617404
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Familial Anetoderma	Generalized joint laxity, Lumbar hyperlordosis	ORPHA:228277
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b...	ORPHA:970
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di...	OMIM:601216
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto...	OMIM:176920
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Seizure, Kyphoscoliosis	OMIM:612913
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti...	ORPHA:93352
Pyle Disease	Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Thin bony cortex	OMIM:265900
Spinal Muscular Atrophy, Ryukyuan Type	Kyphoscoliosis	OMIM:271200
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Seizure, Distal arthrogryposis, Myoclonus, Camptodactyly	OMIM:618011
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Short neck, Hamstring contractures, Abnormal vertebral morphology, Elbow ankylosis	ORPHA:96183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Cerebellar dysplasia	OMIM:615041
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Seizure, Joint contracture, Focal tonic seizure, Kyphoscoliosis	OMIM:617977
Rigid Spine Syndrome	Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture...	ORPHA:97244
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Kyphoscoliosis, Hemolytic-uremic syndrome, Osteoporosis, Seizure, Thrombocytopenia	OMIM:614727
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Synophrys, ...	OMIM:616127
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation	OMIM:620270
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Limited elbow extension	OMIM:146000
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Dysspondyloenchondromatosis	Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Vertebral segmentation defect, Platyspo...	ORPHA:85198
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal ossification, Pl...	OMIM:602557
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Scoliosis, My...	OMIM:614018
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Flexion contracture, Congenital foot contraction deformities, Hyperlordosis	ORPHA:363454
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A...	OMIM:614831
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis, Ankle flexion contracture	ORPHA:280333
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Kyphosis, Osteoarthritis, Abnormality ...	ORPHA:2114
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Growt...	OMIM:614322
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Seizure, Flexion contracture, Kyphoscoliosis	OMIM:607855
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Scoliosis	OMIM:619042
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Flexion contracture, Epip...	OMIM:215100
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Scoliosis, Hyperlordosis	OMIM:611067
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Irregular vertebral endplates, Platyspondyly, Delayed ossification of c...	OMIM:618395
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis	ORPHA:352470
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Congenital Myopathy 16	Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity	OMIM:618524
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Kyphoscoliosis, Flexion contracture, Focal tonic...	OMIM:617105
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Hypertonia, Cerebe...	ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture	OMIM:610687
Intellectual Developmental Disorder, X-Linked 111	Seizure, Kyphoscoliosis	OMIM:301107
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Short stature, Ataxia, Impaired pain sensation, Abnormal cerebellum...	ORPHA:1532
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Abnormal pelvis bone ossification, ...	ORPHA:1426
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Kyphoscoliosis	OMIM:619099
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Limited shoulder movement, Thoracic scoliosis, Achilles tendon contracture, Hyperlordosis	ORPHA:62
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Joint hypermobility, Kyphoscoliosis	ORPHA:300179
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Limited elbow extension, Thoracolumbar scoliosis	OMIM:610313
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Leukodystrophy, Hypomyelinating, 17	Seizure, Flexion contracture, Kyphoscoliosis	OMIM:618006
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Advanced ossification of carpal bones, Vertebral wedging	OMIM:617719
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Seizure, Scoliosis, Generalized myoclonic seizure	OMIM:616756
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ...	OMIM:224050
Yoon-Bellen Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Status ep...	OMIM:619701
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilepticus, Focal impaired ...	ORPHA:330050
Congenital Disorder Of Glycosylation, Type Iaa	Bilateral tonic-clonic seizure, Scoliosis, Status epilepticus	OMIM:617082
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Progress...	ORPHA:2985
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Kyphoscoliosis	OMIM:600384
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement	ORPHA:163665
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features...	OMIM:615400
Thumb Deformity And Alopecia	Alopecia, Short stature	OMIM:188150
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Atlantoaxial abnormality, Hypermobility of interphalangeal joints, Kyphoscoliosis	ORPHA:3433
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Cerebellar hypoplasia, Nail dystrophy, Sparse hair, Intrauterine growth retarda...	OMIM:616353
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c...	OMIM:259450
Osteosclerotic Metaphyseal Dysplasia	Seizure, Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis	OMIM:615198
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ...	ORPHA:276193
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Joint con...	OMIM:208230
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Moynahan Syndrome	Alopecia, Short stature, Cachexia, Hyperkeratosis, Sparse hair	ORPHA:2574
Weismann-Netter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortical bone morphology, An...	ORPHA:3344
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,...	OMIM:618090
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Back pain, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, F...	OMIM:613330
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Hypochondroplasia	Hyperlordosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Join...	ORPHA:429
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia...	ORPHA:521406
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Flexion contracture, Elbow flexion con...	ORPHA:267
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Congenital Myopathy 23	Flexion contracture, Kyphoscoliosis	OMIM:609285
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia	ORPHA:100024
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Seizure, Kyphoscoliosis	OMIM:300886
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot...	OMIM:615362
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex	ORPHA:85184
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Ck Syndrome	Seizure, Lumbar hyperlordosis, Joint hypermobility, Kyphoscoliosis	ORPHA:251383
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Lower limb spasticity, Alopecia, Speech apraxia, Postural tremor, Hypoplasia ...	ORPHA:412057
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Bilateral tonic-clonic seizure, Kyphoscoliosis, Cervical spondylosis, Localized osteop...	ORPHA:199354
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Synophrys, Babinski sign, Slurred speech, Unsteady gait, ...	ORPHA:453521
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, Increased susce...	OMIM:610968
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Ankle flexion contracture, Wrist flexion contracture, Kyphoscoliosis	OMIM:616668
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee...	OMIM:313420
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Kyphoscoliosis, Knee flexion contracture	ORPHA:496689
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s...	OMIM:615006
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Poor motor coordination, Tre...	ORPHA:1170
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat...	OMIM:610967
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Joint stiffness, Abnormal ossification...	ORPHA:750
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Kyphoscoliosis, Hyperlordosis, Advanced ossification of carpal bones, Irregular ...	OMIM:618363
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Hall-Riggs Syndrome	Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Seizure, Scoliosis	OMIM:234250
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Kyphoscoliosis, Focal-onset seizure, Status epi...	ORPHA:561854
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ...	ORPHA:397946
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont...	OMIM:156530
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Abnormality of the nail	OMIM:302000
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Nephrotic syndrome, Pho...	ORPHA:1192
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Flexion contracture, Lumbar hyperlordosis, Joint stiffness, Spinal rigidity	OMIM:609308
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly	OMIM:618982
Oliver-Mcfarlane Syndrome	Alopecia, Severe short stature, Small for gestational age, Long eyebrows, Long eyelashes, Delayed...	OMIM:275400
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Limited hip movem...	ORPHA:99642
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Kyphoscoliosis	OMIM:605588
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly	OMIM:618453
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Platyspondyly, Thoracic ...	OMIM:271510
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thoracic kyphosis, Thin bony cortex	OMIM:619638
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o...	OMIM:619317
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Small for gestational age, Growth delay, Long eyelashes, Sparse hair	ORPHA:3363
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Focal Cortical Dysplasia, Type Ii	Focal impaired awareness seizure, Astrocytosis	OMIM:607341
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ...	OMIM:610357
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod...	ORPHA:1486
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im...	OMIM:619970
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiple...	OMIM:618484
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ...	OMIM:300423
Congenital Muscular Dystrophy Due To Lmna Mutation	Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Joint hyperfle...	ORPHA:157973
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla...	OMIM:259440
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata...	OMIM:616230
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi...	OMIM:607565
Seckel Syndrome 8	Kyphoscoliosis, Ectopic kidney	OMIM:615807
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Sparse body hair, Alopecia univers...	ORPHA:1008
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Roussy-Lévy Syndrome	Kyphoscoliosis, Urinary bladder sphincter dysfunction, Scoliosis	ORPHA:3115
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join...	ORPHA:1159
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Charcot-Marie-Tooth Disease Type 1A	Kyphoscoliosis	ORPHA:101081
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis...	ORPHA:536516
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Bilateral tonic-clonic seizure	OMIM:618237
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly, Hip osteoarthritis,...	ORPHA:2619
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Seizure	ORPHA:85288
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracol...	OMIM:252930
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Flexion contracture	OMIM:613723
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elbow flexion contracture, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis	ORPHA:206546
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Scoliosis	OMIM:616471
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon...	OMIM:619795
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl...	OMIM:144750
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu...	OMIM:617389
Cerebrooculofacioskeletal Syndrome 1	Kyphoscoliosis, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion contracture, Kne...	OMIM:214150
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Joint laxity, Delayed phalangeal epiphyseal ossification, Delayed patellar ossification, Irregula...	OMIM:603546
Warburg Micro Syndrome 1	Cryptorchidism, Osteoporosis, Joint hypermobility, Kyphoscoliosis	OMIM:600118
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion...	OMIM:277720
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis, Ankle flexion contracture	OMIM:613818
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Chudley-Mccullough Syndrome	Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Gm1-Gangliosidosis, Type Ii	Generalized myoclonic seizure, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platy...	OMIM:230600
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly	OMIM:184095
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Generalized joint laxity, Lumbar hyperlordosis	OMIM:609325
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo...	OMIM:256731
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis	OMIM:143100
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Nemaline Myopathy 5C, Autosomal Dominant	Achilles tendon contracture, Scoliosis, Hyperlordosis	OMIM:620389
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Short neck, Limitation of joint mobility, Vertebral wedging, Decreased anteriopos...	ORPHA:3101
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onyc...	ORPHA:2251
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, Delayed pubic bone o...	OMIM:184250
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria...	OMIM:607136
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ...	OMIM:619738
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:22
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry...	ORPHA:2771
Ullrich Congenital Muscular Dystrophy 2	Flexion contracture, Joint hypermobility, Kyphoscoliosis	OMIM:616470
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Congenital Muscular Dystrophy Without Intellectual Disability	Achilles tendon contracture, Kyphoscoliosis	ORPHA:370980
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly	OMIM:608361
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Advanced tarsal ossifi...	OMIM:269250
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Ataxia...	ORPHA:251347
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Short stature, Small for gestational age...	OMIM:300957
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Delayed ossification of carpa...	OMIM:609616
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Hyperlordosis	OMIM:162370
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti...	OMIM:615513
Myotonia With Skeletal Abnormalities And Mental Retardation	Vertebral wedging, Kyphoscoliosis	OMIM:255710
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Roussy-Levy Hereditary Areflexic Dystasia	Kyphoscoliosis	OMIM:180800
Scholte Syndrome	Micropenis, Decreased testicular size, Kyphoscoliosis	OMIM:300977
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Kyphoscoliosis	OMIM:607831
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Geroderma Osteodysplasticum	Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Recurrent fract...	OMIM:231070
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Ataxia, Postnatal growth retardation, Abnormal pyramidal sign, Cerebellar hypoplasia, D...	ORPHA:453533
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C...	OMIM:264180
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Filippi Syndrome	Cerebellar atrophy, Postnatal growth retardation, Dystonia, Sparse hair, Intrauterine growth reta...	OMIM:272440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossification, Generalized joint laxity...	ORPHA:93360
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra...	ORPHA:666
Erythrokeratodermia Variabilis	Alopecia, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Weight los...	ORPHA:317
Mitochondrial Complex I Deficiency, Nuclear Type 8	Stiff neck, Kyphoscoliosis	OMIM:618230
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Alopecia, Agenesis of cerebellar vermis, Cerebellar vermis ...	OMIM:601853
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short neck, Cryptorchidism, Micropenis, Seizure, Scoliosis, Febrile seizure (within the age range...	OMIM:620073
Morquio Syndrome C	Platyspondyly	OMIM:252300
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Scoliosis, Hyperlordosis	ORPHA:63446
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Joint laxity, Ankle flexion contracture, Scoliosis, Hyperlordosis	OMIM:617760
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora...	OMIM:619542
Cartilage-Hair Hypoplasia	Joint laxity, Lymphopenia, Macrocytic anemia, Lumbar hyperlordosis, Impaired lymphocyte transform...	OMIM:250250
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Osteoporosis of vertebrae, Multiple small vertebral fractures, Platyspondyly	OMIM:156510
Mucolipidosis Iii Gamma	Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:252605
Microphthalmia, Syndromic 13	Kyphoscoliosis	OMIM:300915
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis	ORPHA:85174
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis	OMIM:618728
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Epiphyseal stippling, Coronal cleft vertebrae, Coarse metaphyseal tra...	ORPHA:1952
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au...	OMIM:615559
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Seizure, Scoliosis	OMIM:300434
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Progressive sp...	ORPHA:527497
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia, Hirsutism	OMIM:619071
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Aplasia/Hypoplasia of the cerebellar vermis, Coarse hair, ...	ORPHA:75389
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Limited elbow extension	ORPHA:156728
L-Ferritin Deficiency	Alopecia	OMIM:615604
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysm...	OMIM:607694
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Irregular vertebral endplates,...	OMIM:612350
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi...	ORPHA:79106
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Platys...	OMIM:184252
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Cryptorchidism, Renal hypoplasia, Seiz...	OMIM:616817
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis	OMIM:603034
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
4H Leukodystrophy	Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, ...	ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Intellectual Developmental Disorder, Autosomal Recessive 39	Kyphoscoliosis	OMIM:615541
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Congenital Myopathy 2A, Typical, Autosomal Dominant	Arthrogryposis multiplex congenita, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:161800
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Distal joint laxity, Scoliosis, Hyperlordosis	OMIM:616228
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis, Joint stiffness	OMIM:618167
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphoscoliosis, Methioninuria, Limitation of joint mobility, Osteoporosis, Seizure, Scoliosis, Bi...	OMIM:236200
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1797
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Shoulder fl...	OMIM:255800
Sandhoff Disease	Splenomegaly, Kyphosis, Seizure	ORPHA:796
Joint Laxity, Short Stature, And Myopia	Joint hypermobility, Cervical kyphosis, Kyphoscoliosis	OMIM:617662
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Lower limb spasticity, Failure to thrive, Ataxia, Clonus, Rigidity, Dysesthes...	OMIM:614877
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m...	OMIM:614856
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef...	OMIM:256050
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs...	ORPHA:2590
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis	OMIM:616684
Brown-Vialetto-Van Laere Syndrome 2	Kyphoscoliosis, Organic aciduria, Scoliosis	OMIM:614707
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Paget disease of bone, Lumbar hyperlordosis	OMIM:167320
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Mucopolysaccharidosis, Type Iva	Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce...	OMIM:253000
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Decreased hip abduction, Thoracolumbar scoliosis, Kyphoscoliosis, Short nec...	OMIM:114300
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Seizure, Scoliosis, Butterfly ve...	ORPHA:313892
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Lumbar hyperlordosis	OMIM:165800
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Weismann-Netter Syndrome	Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypospadias, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology	ORPHA:1548
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor...	ORPHA:79263
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Myoclonus, Astrocytosis	OMIM:600795
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis, Seizure, Joint laxity, Astrocytosis	OMIM:611087
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Platyspondyly, ...	OMIM:271650
Leukodystrophy, Hypomyelinating, 3	Seizure, Joint contracture, Kyphoscoliosis	OMIM:260600
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Seizure, Platyspondyly, Delayed ossification of carpal bones, Cervi...	OMIM:617425
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py...	ORPHA:101070
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Hyperlordosis	OMIM:618129
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Arthritis	OMIM:601457
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Platyspondyly, Osteoarthritis	OMIM:271600
Usmani-Riazuddin Syndrome, Autosomal Dominant	Seizure, Lumbar hyperlordosis, Thoracic kyphosis	OMIM:619467
Acromesomelic Dysplasia 1	Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrown...	OMIM:602875
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Scoliosis	OMIM:619451
Spastic Paraparesis And Deafness	Tremor, Short stature, Spastic paraparesis	OMIM:312910
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H...	OMIM:617435
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Kerion Celsi	Alopecia	ORPHA:499
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific...	ORPHA:93314
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Myopathy, Centronuclear, 2	Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis	OMIM:255200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins...	OMIM:615157
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Reduction of oligo...	OMIM:312080
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Generalized non-motor (absence)...	ORPHA:485350
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Decreased testicular size, Joint hyperflexibility	ORPHA:1875
Mulchandani-Bhoj-Conlin Syndrome	Horseshoe kidney, Scoliosis, Hyperlordosis	OMIM:617352
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Platyspondyly	OMIM:609324
Myopathy, Scapulohumeroperoneal	Achilles tendon contracture, Scoliosis, Hyperlordosis	OMIM:616852
Cdkl5-Deficiency Disorder	Infantile spasms, Focal-onset seizure, Kyphosis, Scoliosis, Generalized tonic seizure	ORPHA:505652
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Autosomal Recessive Spastic Paraplegia Type 23	Seizure, Kyphoscoliosis, Horseshoe kidney	ORPHA:101003
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbanc...	ORPHA:457240
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:162350
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl...	OMIM:619301
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Vertebral compression fracture, Biconcave...	OMIM:617952
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ...	OMIM:133190
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky...	OMIM:130060
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Synophrys, Unsteady gait, Hirsutism	OMIM:300861
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Throm...	OMIM:619302
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Joubert Syndrome 18	Joint laxity, Kyphoscoliosis, Renal cyst, Horseshoe kidney, Camptodactyly	OMIM:614815
Central Core Disease	Joint laxity, Multiple joint contractures, Kyphoscoliosis	ORPHA:597
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Splenomegaly, Oligosacchariduria, Seizure, Scoliosis, Camptodactyly	OMIM:616354
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Seizure, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cer...	OMIM:301900
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Myoclonus, Astrocytosis	ORPHA:204
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, D...	OMIM:302800
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Seizure, Scoliosis	ORPHA:276630
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis	ORPHA:329284
Myopathy, Distal, 1	Lumbar hyperlordosis, Scoliosis	OMIM:160500
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Ovoid vertebral bodies, Osteoporotic tarsals	OMIM:609052
Myhre Syndrome	Vertebral fusion, Short neck, Joint stiffness, Cryptorchidism, Limitation of joint mobility, Seiz...	OMIM:139210
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Kyphoscoliosis	OMIM:118220
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus	OMIM:618924
Rahman Syndrome	Cryptorchidism, Kyphoscoliosis, Camptodactyly	OMIM:617537
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure, Astrocytosis	ORPHA:275864
Immunodeficiency 68	Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count	OMIM:612260
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Seizure, Kyphoscoliosis	ORPHA:3077
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Throm...	OMIM:610539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:606612
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Short stature, Babinski sign, Sensory ataxia, Gait ataxia, Decreased body weight	ORPHA:445062
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Pl...	OMIM:616507
Myopathy, Centronuclear, 1	Flexion contracture, Hyperlordosis	OMIM:160150
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig...	ORPHA:98759
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral density, Joint h...	ORPHA:582
Geroderma Osteodysplastica	Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Abnormal form of the vertebral bo...	ORPHA:2078
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Thoracomelic Dysplasia	Hyperlordosis, Joint hyperflexibility, Short neck	ORPHA:1803
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My...	OMIM:616139
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Abnormal form of the vertebral bodies, Reduced bone mineral density	ORPHA:2370
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Combined Oxidative Phosphorylation Deficiency 32	Seizure, Joint contracture, Kyphoscoliosis, Horseshoe kidney	OMIM:617664
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus	OMIM:608105
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:183090
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis	OMIM:604563
Adams-Oliver Syndrome 2	Alopecia, Hydrocephalus, Low anterior hairline, Retrocerebellar cyst, Cerebellar hypoplasia, Smal...	OMIM:614219
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Kyphosis, Decreased testicular size, Hyperlordosis	ORPHA:3085
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology	ORPHA:353
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Hyperlordosis, Cryptorchidism, Flexion contracture, Scoliosis, Micropenis	OMIM:613156
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:614381
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormality of the vertebral co...	ORPHA:52430
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal stippling, Spinal canal stenosis, ...	OMIM:101800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Joint hyperflexibility, Testicul...	ORPHA:75496
Melnick-Needles Syndrome	Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hyperflexibilit...	ORPHA:2484
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Scoliosis	OMIM:615155
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Aciduria, Tracheomalacia, Osteoporosis, Astrocytosis, 3-Methylgluta...	OMIM:203700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Increased B cell count	ORPHA:98813
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor...	OMIM:617988
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Bilateral tonic-clonic seizure, Urinary incontinence, Kyphosis, Seizure, Scoliosis, Generalized m...	ORPHA:464282
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a...	OMIM:208920
Achondroplasia	Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Lumbar kyphosis in infancy...	OMIM:100800
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Carpenter Syndrome	Cryptorchidism, Kyphoscoliosis, Polysplenia, Craniosynostosis	ORPHA:65759
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Charcot-Marie-Tooth Disease Type 4D	Kyphoscoliosis	ORPHA:99950
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process	ORPHA:85172
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s...	OMIM:204300
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Kyphoscoliosis, Short neck, Flexion contracture, Seizure, Scoliosis, Macroorchidism, Wrist flexio...	OMIM:300055
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Recurrent fractures, Kyphoscoliosis, Horseshoe kidney, Seizure, Hy...	OMIM:163200
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility...	OMIM:259770
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Fetal Akinesia Deformation Sequence 4	Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Sialidosis Type 2	Kyphosis, Splenomegaly, Flexion contracture, Osteoporosis, Seizure, Nephropathy	ORPHA:87876
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra...	OMIM:607155
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Myoclonus, Astrocytosis	ORPHA:225154
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Seizure, Cryptorchidism	OMIM:618512
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617171
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc...	OMIM:607634
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Stxbp1-Related Encephalopathy	Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s...	ORPHA:599373
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Kyphoscoliosis	OMIM:118200
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Short stature, Ataxia, Fine hair, Premature graying of hair, Growth delay, Cerebellar h...	OMIM:613990
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di...	OMIM:616505
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Limited elbow...	OMIM:121050
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At...	OMIM:617113
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy...	ORPHA:1882
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m...	ORPHA:36387
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, De...	OMIM:177170
Ollier Disease	Platyspondyly, Osteolysis, Anemia, Joint stiffness	ORPHA:296
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple, Truncal obesity, Cerebellar hypoplasia, Abnormal cerebellar vermi...	ORPHA:3224
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ...	OMIM:611726
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrop...	OMIM:169400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Nephrocalcinosis, Seizure, Neutropenia, Joint contracture	OMIM:618005
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of...	ORPHA:2850
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space...	OMIM:607944
Nemaline Myopathy 2	Spinal rigidity, Hyperlordosis, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry...	OMIM:256030
Kleefstra Syndrome 2	Kyphosis, Seizure, Scoliosis	OMIM:617768
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Myopathy, Myofibrillar, 7	Lumbar hyperlordosis, Multiple joint contractures, Urinary incontinence, Limited hip extension, S...	OMIM:617114
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Scoliosis, Hyperlordosis	ORPHA:1387
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ...	ORPHA:228360
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentation defect, Scoliosis...	ORPHA:1323
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal form of the vertebral bodies, ...	ORPHA:93160
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Joint stiffness	ORPHA:1345
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Flexion contracture, Abnormal form of the vertebral bodies, Scoliosis, Interverte...	ORPHA:263463
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Vertebral wedging, Scoliosis, Bicon...	OMIM:301014
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Severe postnatal growth retardation, Alopecia, Severe short stature	OMIM:203550
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Ataxia-Oculomotor Apraxia Type 4	Kyphoscoliosis	ORPHA:459033
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Limited elbow movement, Kyphosis, Scoliosis, Camptodactyly, Camptodactyly of toe,...	OMIM:300280
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Kuskokwim Syndrome	Scoliosis, Abnormal form of the vertebral bodies, Joint stiffness	ORPHA:1149
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal odontoid process morphology, Bilateral tonic-clonic seizure, Kyphoscoliosis, Bladder div...	ORPHA:2976
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia of the odontoid ...	OMIM:253010
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camp...	ORPHA:2848
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Limb joint contracture, Kyphoscoliosis	OMIM:612079
Alagille Syndrome	Cryptorchidism, Abnormality of the ureter, Abnormal form of the vertebral bodies, Nephrotic syndr...	ORPHA:52
Pde4D Haploinsufficiency Syndrome	Joint laxity, Hypospadias, Cryptorchidism, Irregular vertebral endplates, Seizure, Caudal interpe...	ORPHA:439822
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Pancy...	OMIM:242900
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati...	ORPHA:93346
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Platyspondyly, Scoliosis	OMIM:602271
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Seizure, Scoliosis	ORPHA:2429
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scoliosis	ORPHA:2617
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Desbuquois Dysplasia 1	Joint laxity, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific...	OMIM:251450
Dystonia 28, Childhood-Onset	Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto...	OMIM:617284
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Tonic seizure, Flexion contracture, Focal tonic seizure, Myocloni...	OMIM:617106
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Platyspondyly, Flexion contracture	ORPHA:157965
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis	ORPHA:2512
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Normal pressure hydrocephalus, Kinetic tremor, Gait disturbance	OMIM:611808
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Seizure, Scoliosis, Camptodact...	OMIM:314580
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Bladder diverticulum, Scoliosis...	OMIM:617821
Landau-Kleffner Syndrome	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize...	ORPHA:98818
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:616531
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Intellectual Disability And Myopathy Syndrome	Achilles tendon contracture, Lumbar hyperlordosis, Limited elbow extension, Scoliosis	OMIM:619719
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Rhizomelic Dysplasia, Patterson-Lowry Type	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elbow extension, Elbow f...	OMIM:607095
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Kbg Syndrome	Vertebral fusion, Short neck, Epispadias, Cryptorchidism, Vertebral arch anomaly, Seizure, Thorac...	OMIM:148050
Facioscapulohumeral Dystrophy	Hyperlordosis	ORPHA:269
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se...	OMIM:617711
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia	OMIM:212360
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Neonatal epiphysea...	ORPHA:35173
Chromosome 15Q11-Q13 Duplication Syndrome	Seizure, Bilateral tonic-clonic seizure	OMIM:608636
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes...	OMIM:601344
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Osteosclerosis of ribs, Platyspondyly, Irregular vertebral endplates, Abnor...	ORPHA:174
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Flexion contracture, Hyperlordosis	OMIM:611588
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure	OMIM:617709
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen...	OMIM:619510
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bodies, Lumbar platy...	OMIM:618961
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Lymphopenia, Scoliosis	ORPHA:391307
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc...	ORPHA:529665
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se...	OMIM:617976
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616341
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Kyphoscoliosis, Advanced ossification of carpal bones, Cervical spine i...	OMIM:615349
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Cryptorchidism, Kyphosis, Seizure, Scoliosis, Arthrogryposis multiplex congenita	OMIM:611890
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	ORPHA:208441
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Bilateral tonic-clonic seizure	OMIM:619639
Familial Expansile Osteolysis	Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Recurrent fractures, Kyphoscoliosis, Short neck, ...	OMIM:193700
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Febrile seizure (within the age range of 3 months to 6 years), Osteopo...	ORPHA:447980
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hyperlordosis, Focal-onset seizure, Flexion contracture, Generalized non-motor (absence) seizure,...	ORPHA:258
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Cryptor...	OMIM:309583
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Ovoid vertebral bodies, Abnormality of the vertebral endplates, Platyspondyly, Delayed pubic bone...	ORPHA:1856
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,...	OMIM:607326
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Joint hyperflexibility	ORPHA:319199
Hypertrophic Neuropathy Of Dejerine-Sottas	Kyphoscoliosis, Scoliosis	OMIM:145900
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Scoliosis	ORPHA:2598
Cerebellar Atrophy, Developmental Delay, And Seizures	Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive	OMIM:619556
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Seizure, Scoliosis	ORPHA:1858
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Kyphoscoliosis	ORPHA:53721
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Scoliosis	OMIM:255310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine	ORPHA:48431
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S...	OMIM:616645
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Seizure, Scoliosis	ORPHA:85317
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Scoliosis, Polyminimyoclonus	OMIM:619574
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co...	ORPHA:178148
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to...	ORPHA:2769
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Oligosacchariduria, Delayed p...	ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 45	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal...	OMIM:617600
Three M Syndrome 3	Increased vertebral height, Hyperlordosis, Joint hypermobility, Short neck	OMIM:614205
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Camptodactyly of finger, Kyphoscoliosis	OMIM:610756
Charcot-Marie-Tooth Disease, Type 4A	Kyphoscoliosis	OMIM:214400
Coffin-Siris Syndrome 6	Seizure, Kyphoscoliosis	OMIM:617808
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Renal insufficiency, Hypospadias, Kyphoscoliosis, Short neck, Hem...	OMIM:611209
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Allan-Herndon-Dudley Syndrome	Seizure, Flexion contracture, Kyphoscoliosis, Cryptorchidism	ORPHA:59
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis	OMIM:615156
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Platyspondyly, Osteoporosis	ORPHA:319195
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Osteoporosis, Ivory epiph...	OMIM:226980
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Growth delay, Choreoathetosis, Cerebellar hypoplasia, Dystonia	OMIM:619422
Three M Syndrome 1	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreas...	OMIM:273750
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Agenesis of cerebellar vermis, Fine hair, Intrauterine growth retardation	ORPHA:228390
Spastic Paraplegia 20, Autosomal Recessive	Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Urinary urgency, Camptodactyly	OMIM:275900
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive	ORPHA:337
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Infantile spasms, Kyphosis, Cryptorchidism, Seizure, Sco...	OMIM:619797
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Vacuolated lymphocytes, Bilateral tonic-clonic seizure, Myoclonus	OMIM:204200
Neuronal Intranuclear Inclusion Disease	Seizure, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Palmoplantar keratoderma, Nail dystroph...	ORPHA:2890
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,...	OMIM:611390
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle f...	OMIM:259600
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Joint hypermobility	OMIM:619131
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:603516
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive	ORPHA:50812
Episodic Ataxia Type 1	Kyphoscoliosis, Scoliosis	ORPHA:37612
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Lumbar hyperlordosis, Flexion contracture, Knee flexion contracture, Scoliosis	ORPHA:353327
Paternal Uniparental Disomy Of Chromosome 5	Kyphoscoliosis	ORPHA:96190
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Dysostosis, Stanescu Type	Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Massively thicken...	ORPHA:1798
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene...	ORPHA:101071
Mucopolysaccharidosis, Type X	Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine, Platyspondyly, Posterior sca...	OMIM:619698
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Flynn-Aird Syndrome	Joint stiffness, Kyphosis, Bone cyst, Seizure, Scoliosis	ORPHA:2047
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure...	OMIM:615859
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina...	ORPHA:85188
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Limited hip extension, Decreased hip abduction, Kyphoscoliosis, Short neck,...	OMIM:143095
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal...	OMIM:300623
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture, Knee flexion contracture, Abn...	OMIM:610758
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Palmoplantar keratoderma, Failure to thrive, Abnormality of the nail	ORPHA:79394
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98855
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion contracture, Seizure, Pla...	OMIM:300232
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat...	ORPHA:542310
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Short neck, Hemivertebrae, Punctate vertebral calcifications, Epiphyseal stipplin...	OMIM:302960
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl...	OMIM:618497
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Inherited Creutzfeldt-Jakob Disease	Seizure, Myoclonus, Astrocytosis	ORPHA:282166
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co...	OMIM:607454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Flexion contracture, Scoliosis, Hyperlordosis	OMIM:253700
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Lissencephaly 3	Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure	OMIM:611603
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Hyperlordosis, Coronal cleft vertebrae, Finger joint hypermobility, Scoliosis, Limi...	OMIM:618870
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure, Short neck	OMIM:615031
Leigh Syndrome	Chorea, Choreoathetosis, Gliosis, Frontal hirsutism, Alopecia, Ataxia, Athetosis, Abnormal dentat...	ORPHA:506
Crisponi/Cold-Induced Sweating Syndrome 1	Kyphoscoliosis, Short neck, Elbow flexion contracture, Seizure, Camptodactyly, Limited elbow exte...	OMIM:272430
Myotonia Permanens	Limitation of joint mobility, Hyperlordosis	ORPHA:99735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Low anterior hairline, Cere...	OMIM:613153
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Hyperlordosis	ORPHA:2511
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ...	ORPHA:2789
Oculocerebrocutaneous Syndrome	Alopecia, Orbital encephalocele, Dandy-Walker malformation	OMIM:164180
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon...	ORPHA:98863
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Warburg Micro Syndrome 3	Bilateral tonic-clonic seizure, Kyphoscoliosis, Flexion contracture, Myoclonic seizure, Micropeni...	OMIM:614222
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Abnormality of the ver...	OMIM:166600
Arthrogryposis, Distal, Type 5D	Limited elbow movement, Hyperlordosis, Short neck, Limited knee flexion, Elbow flexion contractur...	OMIM:615065
Congenital Muscular Dystrophy, Ullrich Type	Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Hyperexten...	ORPHA:75840
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Growth delay, Spina bifida occulta, Sparse body hair	ORPHA:177
Gm1 Gangliosidosis	Bilateral tonic-clonic seizure with generalized onset, Camptodactyly of finger, Hyperlordosis, Jo...	ORPHA:354
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Camptodactyly of finger, Joint stiffness, Flexion contracture, Congeni...	ORPHA:115
Hemifacial Atrophy, Progressive	Kyphosis, Seizure	OMIM:141300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Limitation of joint mobility, Hyperlordosis	ORPHA:3068
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Hyperlordosis, Osteopetrosis, Scoliosis, Facial hyperostosis, Spi...	ORPHA:2780
Odontochondrodysplasia 1	Biconvex vertebral bodies, Osteoporosis, Coronal cleft vertebrae, Platyspondyly, Delayed ossifica...	OMIM:184260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Seizure, Elbow flexion contracture	OMIM:618138
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Bilateral tonic-clonic seizure, Hydroureter, Osteoporosis, General...	OMIM:615398
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Limited elbow extension, Ovoid vertebral bodies	OMIM:608728
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Thick hair, Postnatal growth reta...	ORPHA:357058
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Cerebellar hypoplasia, Cerebellar...	OMIM:613155
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys...	ORPHA:85194
Crome Syndrome	Short stature, Cerebellar dysplasia	OMIM:218900
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Bilateral tonic-clonic seizure, Kyphosis, Cryptorchidism, Seizure, Status epileptic...	ORPHA:364028
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Tremor, Growth delay, Spasticity	OMIM:278780
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn...	ORPHA:494
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Hyperlordosis	OMIM:620285
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen...	ORPHA:86909
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Arthrogrypo...	ORPHA:171436
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Spastic par...	OMIM:300894
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Kyphoscoliosis, Tonic seizure	OMIM:620075
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Growth delay, Choreoathetosis, Abnormality of extrapy...	OMIM:615673
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Short stature, Impaired distal vibration sensation, Limb ataxia,...	ORPHA:98768
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased testicular size, Kyphoscoliosis	OMIM:604168
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Microcytic anemia, Hyperlordosis, Hypoch...	OMIM:600462
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
4Q21 Microdeletion Syndrome	Tremor, Synophrys, Growth delay, Long eyelashes, Cerebellar hypoplasia, Intrauterine growth retar...	ORPHA:238750
Osteogenesis Imperfecta, Type Vi	Joint laxity, Vertebral compression fracture, Increased susceptibility to fractures, Biconcave ve...	OMIM:613982
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Abno...	OMIM:600142
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Diabetes Mellitus, Permanent Neonatal, 2	Flexion contracture, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on...	OMIM:618856
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr...	OMIM:605021
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Limited knee flexion, Lumbar hyperlordosis	ORPHA:435387
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, ...	OMIM:609128
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Hydrocephalus, Cerebellar hypop...	ORPHA:1647
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ...	OMIM:300554
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Kyphoscoliosis, Short neck, Seizure, Scoliosis	ORPHA:391408
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Joint stiffness, Thoracic platyspondyly, Osteoarthritis, Limit...	ORPHA:166011
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Seizure, Kyphoscoliosis, Contractures of the large joints	ORPHA:324410
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Cryptorchidism, Seizure, Myeloid leukemia, Joint hypermobility	ORPHA:404443
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Tetraplegia/tetraparesis, Sparse eyebrow, Rigidity, Unsteady gait, P...	ORPHA:2269
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98853
Mucolipidosis Ii Alpha/Beta	Osteopenia, Thoracolumbar kyphoscoliosis, Craniosynostosis, Ovoid vertebral bodies, Hypoplasia of...	OMIM:252500
Sjögren-Larsson Syndrome	Kyphosis, Seizure, Scoliosis, Joint stiffness	ORPHA:816
Tetrasomy 15Q26	Camptodactyly, Hydronephrosis, Kyphoscoliosis, Horseshoe kidney	OMIM:614846
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Oculoskeletodental Syndrome	Nephrocalcinosis, Thoracic kyphosis, Scoliosis, Hyperlordosis	ORPHA:557003
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Thoracic scoliosis, Generalized joint laxity, Nephrolithiasis, Decrease...	OMIM:613848
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Vertebral clefting, Hypercalciuria, Increased sus...	OMIM:241500
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Seizure, Bilateral tonic-clonic seizure	OMIM:620317
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Dysmetria, Growth delay, Progress...	ORPHA:502423
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Seizure, Sc...	ORPHA:1545
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Menkes Disease	Alopecia, Brittle hair, Short stature, Babinski sign, Hypertonia, Sparse hair, Intrauterine growt...	OMIM:309400
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:86812
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Limited pronation/supination of forear...	ORPHA:293843
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Flexion contracture, Hyperextensibility at wris...	ORPHA:544503
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility	OMIM:614898
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Recurrent fractures, Camptodactyly of finger, Short neck, Cryptorchidism, Ky...	ORPHA:3409
Autosomal Recessive Stickler Syndrome	Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility	ORPHA:250984
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:301020
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Focal hemiclo...	ORPHA:1830
Braddock-Carey Syndrome 1	Thrombocytopenia, Multicystic kidney dysplasia, Camptodactyly, Hyperlordosis	OMIM:619980
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Osteoarthritis, Limitation of jo...	ORPHA:1427
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty	OMIM:615704
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Kyphoscoliosis, Bilater...	ORPHA:466722
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dyston...	OMIM:617710
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Bilateral tonic-clonic seizure, Hyperlordosis	ORPHA:369840
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Decreased skull ossification, Short neck	ORPHA:93267
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Short neck, Kyphosis, Reduced bone mineral density, Spina bifida occulta	ORPHA:2983
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Joint hyperflexibility	ORPHA:90653
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Developmental And Epileptic Encephalopathy 37	Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus	OMIM:616981
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Clark-Baraitser syndrome	Joint laxity, Kyphosis, Seizure, Scoliosis, Macroorchidism	OMIM:300602
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Chiari type I malformation, Small nail...	ORPHA:166035
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis	OMIM:601455
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced al...	OMIM:301040
Baralle-Macken Syndrome	Focal-onset seizure, Kyphosis, Urinary incontinence	OMIM:619255
Fucosidosis	Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Splenomegaly, Anterior beak...	OMIM:230000
Developmental And Epileptic Encephalopathy 106	Postnatal growth retardation, Cerebellar hypoplasia, Limb hypertonia	OMIM:620028
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, S...	ORPHA:2796
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Growth delay, Hyperkeratosis, Palmoplan...	OMIM:242100
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Lo...	ORPHA:3051
Peho-Like Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Muscular Dystrophy, Duchenne Type	Hyperlordosis, Achilles tendon contracture, Flexion contracture, Knee flexion contracture, Hamstr...	OMIM:310200
Hypomelanosis Of Ito	Kyphosis, Seizure, Scoliosis	OMIM:300337
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Platyspondyly, Synostosis of carpal b...	ORPHA:93351
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion...	OMIM:619040
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:609056
Autosomal Dominant Spastic Paraplegia Type 6	Limitation of movement at ankles, Bilateral tonic-clonic seizure, Urinary incontinence, Limited h...	ORPHA:100988
Alg1-Cdg	Renal insufficiency, Kyphosis, Limitation of joint mobility, Seizure, Nephrotic syndrome, Scoliosis	ORPHA:79327
Frank-Ter Haar Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Beaking of vertebral b...	ORPHA:137834
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Kyphoscoliosis, Minimal change glomerulonephritis, Stag...	OMIM:618348
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Cryptorchidis...	ORPHA:628
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Hyperlordosis, Short neck, Thoracic platys...	ORPHA:457395
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Cryptorchidism, Seizure, Congenital contracture, Joint contracture of the 5th finger, S...	ORPHA:352490
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Bilateral tonic-clonic seizure	OMIM:617862
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
13Q12.3 Microdeletion Syndrome	Cryptorchidism, Kyphoscoliosis, Camptodactyly	ORPHA:412035
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr...	OMIM:259420
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, In...	OMIM:619428
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Bilateral tonic-clonic seizure, Ankle flexion contracture, Flexion contracture, ...	OMIM:617468
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Fo...	OMIM:618476
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Increased level of gamma-...	OMIM:271980
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B...	ORPHA:458803
Pycnodysostosis	Joint laxity, Increased bone mineral density, Hyperlordosis, Generalized osteosclerosis, Kyphosis...	ORPHA:763
Smith-Mccort Dysplasia 2	Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Limited elbow exten...	OMIM:615222
Larsen-Like Syndrome	Joint laxity, Kyphoscoliosis	OMIM:608545
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis	ORPHA:93316
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Joint hyperflexibil...	ORPHA:2616
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Short stature, Patchy alopecia, Cerebellar hypoplasia, Sparse hair	OMIM:617763
Ataxia-Telangiectasia	Hypopigmentation of hair, Short stature, Ataxia, Tremor, Premature graying of hair, Gait disturba...	ORPHA:100
Progressive Myoclonic Epilepsy Type 3	Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb...	ORPHA:263516
Mycetoma	Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal form of the vertebral bodies, Painles...	ORPHA:2583
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus	OMIM:254800
Joubert Syndrome 37	Lumbar hyperlordosis, Cryptorchidism, Hydronephrosis, Micropenis, Decreased testicular size, Join...	OMIM:619185
Congenital Myopathy 10B, Mild Variant	Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis	OMIM:620249
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid vertebral bodies, Crani...	ORPHA:536467
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture	OMIM:618658
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Seizu...	ORPHA:568
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cryptorchidism	OMIM:604317
Osteoglosphonic Dysplasia	Craniosynostosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Abnormal bone...	ORPHA:2645
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ...	ORPHA:382
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Nail-Patella Syndrome	Back pain, Flexion contracture, Reduced bone mineral density, Knee flexion contracture, Nephritis...	ORPHA:2614
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Seizure, Leukopenia, Neutropenia, Joint hypermobility	OMIM:216550
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Severe short stature, Cachexia, Growth delay, Thin eyebrow	ORPHA:3242
Bethlem Myopathy	Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A...	ORPHA:610
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased c...	OMIM:610915
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss...	OMIM:300009
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:612813
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Tall lumbar ve...	OMIM:102500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Generalized-onset seizure, Limited elbow movement, Increased intervertebral space, T lymphocytope...	ORPHA:508533
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Hyperlordosis, Hypoplasia of the odontoid process, Delayed epiphyseal ossification, F...	OMIM:616007
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla...	ORPHA:544488
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus	OMIM:617290
Dystonia-Deafness Syndrome 1	Kyphoscoliosis	OMIM:607371
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Highly arched eyebrow, Synophrys, Cerebel...	OMIM:617751
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Flexion contracture, Premature osteoarthritis, Coronal cleft vertebrae, Pla...	OMIM:215150
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra...	OMIM:616267
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Hsd10 Disease	Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo...	ORPHA:391417
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Seizure, Platyspondyly, Joint hy...	ORPHA:2655
Jansen-De Vries Syndrome	Hyperlordosis	OMIM:617450
Achondroplasia	Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Spinal canal stenosis, Thoracolumbar kyp...	ORPHA:15
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype...	ORPHA:79395
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, Generalized joint laxity, Fu...	ORPHA:2953
Solitary Bone Cyst	Back pain, Pathologic fracture, Unicameral bone cyst, Abnormal form of the vertebral bodies	ORPHA:83468
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure	OMIM:104290
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Kyphoscoliosis, Oligosacchariduria, Hepatosplenomegaly, Seizure, ...	ORPHA:397709
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly	OMIM:608940
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Testicular neoplasm, Fibrous dysplasia of ...	ORPHA:249
Biotinidase Deficiency	Alopecia, Diffuse cerebellar atrophy, Ataxia	OMIM:253260
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Seizure, Scoliosis, Hyperlordosis	OMIM:300986
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Kyphosis, Spleno...	ORPHA:90324
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Joint laxity, Seizure, Bilateral tonic-clonic seizure, Hyperextensibility of the finger joints	ORPHA:488635
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst	OMIM:615181
Alpha-Mannosidosis	Craniofacial hyperostosis, Short neck, Kyphosis, Splenomegaly, Arthritis, Scoliosis, Synostosis o...	ORPHA:61
Severe Canavan Disease	Seizure, Bilateral tonic-clonic seizure, Joint stiffness	ORPHA:314911
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Lumbar hyperlordosis, Cryptorchidism, Joint contracture, Delayed ossification of pubic rami, Scap...	OMIM:602471
Thanatophoric Dysplasia Type 2	Kyphosis, Limitation of joint mobility, Seizure, Platyspondyly, Joint hyperflexibility	ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Short stature, Tremor, Gait ataxia, Abdominal obesity, Delayed puberty, Cerebellar vermis atrophy	OMIM:300354
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure, Urinary incontinence	ORPHA:329329
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat...	ORPHA:2930
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr...	OMIM:616294
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo...	OMIM:301078
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	ORPHA:79137
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Epileptic spasm, Bilateral tonic-clonic seizure, Urinary incontinence, Seizure, Retractile testis...	OMIM:617193
Holocarboxylase Synthetase Deficiency	Growth delay, Alopecia, Ataxia, Weight loss	ORPHA:79242
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, O...	ORPHA:77259
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Short stature, Ataxia	ORPHA:1368
Systemic Lupus Erythematosus 17	Alopecia, Chorea	OMIM:301080
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Nail dystrophy, Cerebellar h...	OMIM:127550
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Seizure, Lumbar scoliosis, Cervic...	OMIM:617796
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Monosomy 18P	Kyphoscoliosis, Short neck	ORPHA:1598
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Short stature, Growth delay, Nail dystrophy, Atrichia	ORPHA:1867
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Infantile spasms, Cerebellar gliosis, Flexion contracture, Abnorm...	ORPHA:79243
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok...	OMIM:614594
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Cryptorchidism, Seizure, Micropenis, Decreased testicular size	OMIM:615433
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Platyspondyly, Short neck	OMIM:618958
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Alpha-Heavy Chain Disease	Growth delay, Alopecia	ORPHA:100025
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentric ossification of proxi...	OMIM:223800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebr...	ORPHA:168549
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypospadias, Joint hypermobility, Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, ...	OMIM:619718
Emanuel Syndrome	Sacral dimple, Multiple joint contractures, Kyphoscoliosis, Unilateral renal agenesis, Cryptorchi...	ORPHA:96170
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis, Joint hyperflexibility	ORPHA:2181
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ...	OMIM:620327
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Kniest Dysplasia	Short neck, Keratan sulfate excretion in urine, Hypoplasia of the odontoid process, Delayed epiph...	ORPHA:485
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Spinal rigidity, Hyperlordosis, Splenomegaly, Flexion contracture, Osteoporosis, Scol...	OMIM:613327
Kagami-Ogata Syndrome	Splenomegaly, Seizure, Flexion contracture, Kyphoscoliosis	OMIM:608149
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Tremor, Pontocerebellar atrophy, Nail dysplasia, Failure to thrive	OMIM:608799
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosis, Cryptorchidism, Abnormal form o...	ORPHA:794
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Myoclonus	OMIM:619191
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Glutaric aciduria, Lacticaciduria, Seizure, 3-Methylglutaric aciduria, Gliosis, Et...	ORPHA:26791
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc...	OMIM:241530
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cantu Syndrome	Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, Platyspondyly	OMIM:239850
Pfeiffer Syndrome	Hyperlordosis, Synostosis of carpal bones, Short neck	ORPHA:710
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Odontochondrodysplasia	Joint hyperflexibility, Platyspondyly, Scoliosis	ORPHA:166272
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Hyperlordosis	ORPHA:169186
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Cryptorchidis...	OMIM:618917
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Generalized-onset seizure, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:618443
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets	OMIM:211600
Stickler Syndrome, Type I	Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi...	OMIM:108300
Primary Dystonia, Dyt4 Type	Kyphoscoliosis	ORPHA:98805
Stiff-Person Syndrome	Anemia, Lumbar hyperlordosis, Myoclonic spasms	OMIM:184850
Dyskeratosis Congenita, Autosomal Recessive 5	Cerebellar hypoplasia, Intrauterine growth retardation, Postnatal growth retardation, Nail dystrophy	OMIM:615190
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Hyperlordosis, Osteoarthritis, S...	OMIM:190350
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis	OMIM:615980
Adrenoleukodystrophy	Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal a...	OMIM:300100
Classic Mycosis Fungoides	Hyperkeratosis, Alopecia, Abnormality of the nail	ORPHA:2584
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Ruvalcaba Syndrome	Kyphosis, Limited elbow extension, Scoliosis, Cryptorchidism	OMIM:180870
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Basilar Impression, Primary	Kyphoscoliosis, Short neck	OMIM:109500
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Focal impaired awareness seizure, Status...	OMIM:613970
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Short stature, Palmoplantar keratoderma, Sparse hair, Failure to thrive, Fragile nails	OMIM:242150
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency, Common Variable, 10	Chiari type I malformation, Trachyonychia, Alopecia totalis	OMIM:615577
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Seizure, Platyspondyly, Foca...	OMIM:616482
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Kohlschutter-Tonz Syndrome	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:226750
Kniest Dysplasia	Hip contracture, Short neck, Delayed epiphyseal ossification, Limitation of joint mobility, Coron...	OMIM:156550
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Short neck	ORPHA:171866
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Kyphosis, Increased urinary O-linked sialopepti...	ORPHA:812
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure	ORPHA:140927
Neuroferritinopathy	Resting tremor, Dystonia, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ...	ORPHA:289266
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
12Q14 Microdeletion Syndrome	Short stature, Tremor, Synophrys, Chiari malformation, Intrauterine growth retardation, Failure t...	ORPHA:94063
Czech Dysplasia	Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ...	OMIM:609162
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Increased bone mineral density, Hypospadias, Kyphosis, Epispadias, Cra...	ORPHA:2658
Fountain Syndrome	Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Seizure, Scoliosis, S...	ORPHA:3219
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Flexion contracture, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:616281
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Aspartylglucosaminuria	Aspartylglucosaminuria, Joint stiffness, Splenomegaly, Seizure, Arthritis, Scoliosis, Anterior be...	ORPHA:93
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o...	OMIM:253200
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Gm1-Gangliosidosis, Type I	Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebra...	OMIM:230500
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Cryptorchidism, Hydronephrosis, Camptodactyly, Micropenis, Joint contracture of t...	OMIM:612513
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased...	OMIM:224300
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Mcdonough Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2471
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Recurrent fractures, Decreased calvarial ossification, Platyspondyly, Vertebral compr...	OMIM:616229
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria, Bilateral tonic-clonic seizure	OMIM:249650
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature	ORPHA:88630
Ritscher-Schinzel Syndrome 4	Bilateral tonic-clonic seizure, Focal-onset seizure, Cryptorchidism, Scoliosis, Limited knee exte...	OMIM:619435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Short stature, Ataxia, Tremor, Inabi...	OMIM:615356
Stüve-Wiedemann Syndrome	Osteopenia, Sacral dimple, Flexion contracture of finger, Recurrent fractures, Camptodactyly of f...	ORPHA:3206
Hall-Riggs Syndrome	Seizure, Platyspondyly, Scoliosis, Joint stiffness	ORPHA:2107
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Kyphoscoliosis, Cryptorchidism, Camptodactyly, Micropenis, Calvarial osteosclerosis	OMIM:616331
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, Joint contracture	OMIM:615381
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Kyphoscoliosis, Short neck, Acanthocytosis, Flexion contracture, Elbow flexion...	OMIM:618947
Rhizomelic Syndrome, Urbach Type	Kyphosis, Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Decreased skull ossification	OMIM:300863
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Cerebral Creatine Deficiency Syndrome 2	Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo...	OMIM:612736
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Three M Syndrome 2	Hyperlordosis, Lumbar hyperlordosis, Short neck	OMIM:612921
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Impaired temperature sensation, Palmoplantar hyperkeratosis, Nail dystro...	ORPHA:100976
Osteogenesis Imperfecta, Type Xx	Multiple prenatal fractures, Vertebral compression fracture, Kyphoscoliosis	OMIM:618644
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Recurrent fractures, Kyphoscoliosis, Ectopic kidney, Kyphosis, Cryptorchidism, Osteo...	ORPHA:3063
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (a...	OMIM:615637
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Intellectual Developmental Disorder, Autosomal Recessive 78	Febrile seizure (within the age range of 3 months to 6 years), Kyphoscoliosis	OMIM:620237
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair, Failure to thrive	ORPHA:2316
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Cardiac-Valvular Ehlers-Danlos Syndrome	Thoracolumbar scoliosis, Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Seizure,...	ORPHA:230851
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Kyphosis, Bone cyst, Flexion contracture, Osteolysis, ...	ORPHA:3042
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Platyspondyly, Scoliosis, Limi...	OMIM:616723
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,...	OMIM:612843
Polyendocrine-Polyneuropathy Syndrome	Short stature, Ataxia, Postnatal growth retardation, Cerebellar hypoplasia, Dystonia	OMIM:616113
Myopathy, Mitochondrial, And Ataxia	Short stature, Thick hair, Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth dela...	OMIM:617675
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Unilateral renal agenesis, Hyperlordosis, Decreased proportion of CD4-positive helper...	ORPHA:221139
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Pontocerebellar Hypoplasia, Type 10	Cryptorchidism, Seizure, Kyphoscoliosis, Short neck	OMIM:615803
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Bilateral tonic-clonic seizure, Myoclonus	OMIM:619065
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
You-Hoover-Fong Syndrome	Seizure, Kyphoscoliosis	OMIM:616954
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Fractured radius, Short neck, Multiple prenatal fractures, Flexion contr...	OMIM:616897
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Joint laxity, Kyphoscoliosis, Spinal rigidity, Seizure, Arthrogry...	ORPHA:98914
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Joint laxity, Kyphoscoliosis, Spinal rigidity, Seizure, Arthrogry...	ORPHA:590
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Sparse hai...	ORPHA:1005
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec...	ORPHA:175
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General...	OMIM:619913
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Alopecia, Growth delay, Dandy-Walker malformation	ORPHA:2612
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
Schaaf-Yang Syndrome	Kyphosis, Cryptorchidism, Flexion contracture, Seizure, Scoliosis, Camptodactyly, Arthrogryposis ...	OMIM:615547
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Dent Disease	Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri...	ORPHA:1652
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th...	OMIM:272460
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis	ORPHA:254854
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Spinal rigidity, Hyperlordosis, Limited knee flexion/extension, Pollakisu...	ORPHA:268
Atelosteogenesis Type I	Abnormal ossification involving the femoral head and neck, Coronal cleft vertebrae, Platyspondyly...	ORPHA:1190
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigidity, Kyphosis, Nephro...	ORPHA:352447
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:615834
Camurati-Engelmann Disease	Hyperlordosis, Kyphosis, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility,...	ORPHA:1328
Trichorhinophalangeal Syndrome Type 1	Camptodactyly of finger, Scoliosis, Hyperlordosis	ORPHA:77258
Ane Syndrome	Multiple joint contractures, Kyphoscoliosis	ORPHA:157954
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Seizure, Joint hyperflexibil...	ORPHA:2115
Sézary Syndrome	Tremor, Alopecia, Palmoplantar keratoderma, Nail dystrophy	ORPHA:3162
Chromosome 10Q26 Deletion Syndrome	Lumbar hyperlordosis, Craniosynostosis, Short neck, Cryptorchidism, Seizure, Vesicoureteral reflu...	OMIM:609625
Satoyoshi Syndrome	Alopecia, Short stature, Alopecia universalis	OMIM:600705
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra...	ORPHA:70594
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Hypospadias, Bilateral tonic-clonic seizure, Focal-onset seizure, Cryptorchidism, Scoliosis	OMIM:618316
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Bilateral tonic-clonic seizure, Joint hypermobility, Flexion contracture...	ORPHA:481152
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa...	ORPHA:363400
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro...	OMIM:249420
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Multiple joint contractures, Joint hypermobility, Sagittal...	ORPHA:536471
Mevalonic Aciduria	Normocytic hypoplastic anemia, Kyphoscoliosis, Fluctuating splenomegaly, Thrombocytopenia, Leukoc...	OMIM:610377
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, Bilateral tonic-clonic seizure	ORPHA:209370
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, Short neck, Kyphos...	ORPHA:2311
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Thin bony cortex	OMIM:277600
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility, Scoliosis	ORPHA:1901
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Frontonasal Dysplasia 2	Encephalocele, Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, Agenesis of cere...	OMIM:613451
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst...	ORPHA:442835
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cryptorchidism, Contracture of the distal interphalangeal joint of the ...	ORPHA:83617
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia	OMIM:247100
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Short neck, Cryptorchidism, Delayed epiphyseal oss...	OMIM:210710
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Urinary incontinence, Scoliosis	OMIM:614409
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Pear-shaped vertebrae, Limited elbo...	OMIM:602111
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Choreoathetosis, Hype...	OMIM:616271
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hypersplenism, Increased vertebral h...	OMIM:613385
Shashi-Pena Syndrome	Unilateral renal agenesis, Kyphosis, Osteoporosis, Seizure, Scoliosis, Cervical C2/C3 vertebral f...	OMIM:617190
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Kyphoscoliosis, Osteoporosis, Bladder diverticulum, Platyspondyly, Prog...	OMIM:225400
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Monosomy 18Q	Astrocytoma, Kyphoscoliosis, Bilateral cryptorchidism, Seizure, Atlantoaxial abnormality, Micrope...	ORPHA:1600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin...	OMIM:264700
Pgm3-Cdg	Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor...	ORPHA:443811
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Hyperkeratosis,...	OMIM:308300
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, Seizure, Scoliosis	ORPHA:58
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia...	OMIM:612394
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ...	ORPHA:845
1Q44 Microdeletion Syndrome	Vesicoureteral reflux, Bilateral tonic-clonic seizure, Scoliosis, Horseshoe kidney	ORPHA:238769
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Trapezoidal vertebral body, Bilateral tonic-clonic seizure	OMIM:600092
Ruvalcaba Syndrome	Kyphosis, Cryptorchidism, Hematuria, Seizure, Scoliosis, Abnormal vertebral epiphysis morphology,...	ORPHA:3121
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Kyphosis, Chronic kidney disease, Seizure, Vesicoureteral reflux	ORPHA:261222
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:614207
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ...	OMIM:109400
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ...	ORPHA:800
Atypical Progressive Supranuclear Palsy Syndrome	Kyphoscoliosis	ORPHA:99750
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Hepatosplenomegaly, Seizure, Polycystic kidney dysplasia	OMIM:608776
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Oculodentodigital Dysplasia	Neurogenic bladder, Camptodactyly of finger, Cranial hyperostosis, Abnormal form of the vertebral...	ORPHA:2710
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cryptorchidism, Bilateral tonic-clonic seizure, Foot joint contracture	ORPHA:457205
Cln3 Disease	Bilateral tonic-clonic seizure, Focal-onset seizure, Vacuolated lymphocytes, Myoclonic seizure, S...	ORPHA:228346
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Seizure	ORPHA:500180
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Platyspondyly, Recurrent fractures, Multiple prenatal fractures	OMIM:166210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Focal-onset seizure, Seizure	ORPHA:300570
Encephalocraniocutaneous Lipomatosis	Cerebellar hypoplasia, Alopecia, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Proximal 16P11.2 Microduplication Syndrome	Short stature, Sparse eyelashes, Sparse eyebrow, Tremor, Failure to thrive, Decreased body mass i...	ORPHA:370079
Trisomy 20P	Hypospadias, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormality of the ur...	ORPHA:261318
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosis, Myoclonic seizure...	OMIM:619835
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Cryptorchidism, Joint hy...	ORPHA:536532
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur...	ORPHA:457351
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis	ORPHA:171881
Bresek Syndrome	Growth delay, Intrauterine growth retardation, Alopecia, Hydrocephalus	ORPHA:85284
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Postnatal growth retardation, Tremor, S...	OMIM:300966
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Seizure, Abnormal cortical bone morphology	OMIM:614886
Rhizomelic Chondrodysplasia Punctata, Type 5	Seizure, Thoracic scoliosis, Convulsive status epilepticus, Contractures of the large joints	OMIM:616716
Autosomal Recessive Spastic Paraplegia Type 9B	Pollakisuria, Urinary retention, Kyphoscoliosis	ORPHA:447760
Unilateral Focal Polymicrogyria	Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Urinary incontinence, Fo...	ORPHA:268947
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
3P25.3 Microdeletion Syndrome	Sacral dimple, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Knee flex...	ORPHA:435638
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe...	OMIM:620292
Lichen Planopilaris	Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Decreas...	OMIM:151210
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Spasticity, Patchy alopecia, Short stature	ORPHA:85279
3Q27.3 Microdeletion Syndrome	Kyphoscoliosis	ORPHA:397695
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Rickets, Spinal canal stenosis, Renal phosphate wasting, Renal tubu...	OMIM:307800
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Joint laxity, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis	OMIM:619234
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc...	ORPHA:289157
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Developmental And Epileptic Encephalopathy 95	Joint laxity, Multifocal seizures, Bilateral tonic-clonic seizure, Multiple joint contractures, F...	OMIM:618143
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Seizure, Microcytic anemia	ORPHA:324737
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure	OMIM:617493
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Celiac Disease, Susceptibility To, 1	Alopecia, Short stature, Ataxia, Postnatal growth retardation, Weight loss, Delayed puberty, Fail...	OMIM:212750
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Short stature, Tremor, Growth delay, Intrauterine growth retardation, Failure to thrive	OMIM:617744
Desbuquois Dysplasia 2	Joint laxity, Lumbar hyperlordosis, Short neck, Advanced ossification of carpal bones, Platyspondyly	OMIM:615777
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Tetraplegia, Hyperkeratosis, Failure to thrive	OMIM:610768
Satoyoshi Syndrome	Hyperlordosis	ORPHA:3130
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis	ORPHA:1366
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy...	OMIM:271640
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Short neck, Cryptorchidism, Generalized non-mot...	OMIM:620224
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Impaired vibratio...	ORPHA:447753
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Tremor	ORPHA:66633
Alpers-Huttenlocher Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:726
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Hepatosplenomegaly, Ver...	ORPHA:263508
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus...	ORPHA:220497
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Lumbar hyperlordosis, Short neck, Cryptorchidism, Generalized joint laxity, Increased...	ORPHA:251028
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Short stature, Weight loss	ORPHA:47
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo...	OMIM:618291
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ...	OMIM:619854
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614559
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Joint hypermobility, Unilateral renal agenesis, Camptodactyly of finger, Kyphosis, Cryptorchidism...	OMIM:619951
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Nephrolithiasis	OMIM:619827
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop...	ORPHA:2959
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck	ORPHA:3191
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Seizure, Abnormality of the ureter, Hyperlordosis	ORPHA:3253
Sarcosinemia	Hypersarcosinuria, Bilateral tonic-clonic seizure	ORPHA:3129
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion in urine, Hyp...	OMIM:253220
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Bilateral cryptorchidism, Seizure, Joint contracture, Gliosis, Camptodactyly, Mic...	OMIM:617403
Congenital Muscular Dystrophy With Cerebellar Involvement	Seizure, Lumbar hyperlordosis	ORPHA:370959
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Hydrocephalus, Abdominal obesity, Intrauterine growth retardation, Cereb...	OMIM:619321
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Joint hypermobility, Thoracolumbar kyphoscoliosis, Platyspondyly	OMIM:618853
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi...	OMIM:254090
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur...	ORPHA:573278
Adams-Oliver Syndrome	Encephalocele, Alopecia, Hydrocephalus, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Ab...	ORPHA:974
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Glutaric aciduria, Myoclonic sei...	OMIM:600721
Lhermitte-Duclos Disease	Trichilemmoma, Hydrocephalus, Enlarged cerebellum, Ataxia	ORPHA:65285
Chanarin-Dorfman Syndrome	Alopecia, Ataxia	OMIM:275630
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha...	OMIM:129400
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Scoliosis	OMIM:162300
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus...	ORPHA:475
Spondyloocular Syndrome	Osteopenia, Unilateral cryptorchidism, Platyspondyly, Vertebral compression fracture, Thin bony c...	OMIM:605822
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Bilateral tonic-clonic seizure, Kyphoscoliosis, Kyphosis, Lim...	ORPHA:457359
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Seizure, Platyspondyly	ORPHA:1860
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Arthrogryposis, Distal, Type 5	Limited wrist extension, Kyphosis, Distal arthrogryposis, Congenital finger flexion contractures,...	OMIM:108145
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure, Hyperlordosis, Cryptorchidism, Decreased number of sternal ossifi...	OMIM:234100
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, L...	OMIM:203500
Pelizaeus-Merzbacher Disease	Kyphosis, Seizure, Scoliosis, Joint stiffness	ORPHA:702
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ...	ORPHA:2839
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly	OMIM:601356
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Distal Deletion 10Q	Lumbar hyperlordosis, Craniosynostosis, Functional abnormality of the bladder, Horseshoe kidney, ...	ORPHA:96148
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Weight loss, Ridge...	ORPHA:37
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Intellectual Developmental Disorder, Autosomal Dominant 29	Generalized-onset seizure, Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Seizure, Febrile ...	OMIM:616078
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Alagille Syndrome 1	Multiple small medullary renal cysts, Hemivertebrae, Renal hypoplasia, Stage 5 chronic kidney dis...	OMIM:118450
Mitochondrial Complex I Deficiency, Nuclear Type 13	Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly, Mucopolysacchariduria	ORPHA:583
Acrootoocular Syndrome	Kyphoscoliosis	ORPHA:2980
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure	OMIM:203740
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os...	OMIM:260400
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Nephrolithiasis, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:219090
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Decreased calvarial ossification, Polycystic kidney dysplasia, Platyspondyly, Vertebral wedging	OMIM:617866
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Bilateral tonic-clonic seizure, Increased urinary su...	OMIM:272300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Non-obstructive azoospermia, Kyphosis, Cryptorchidism, Osteopor...	ORPHA:2232
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Kyphoscoliosis, Severe generalized osteoporosis, Knee flexion contr...	OMIM:210730
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Infantile Liver Failure Syndrome 3	Hypoplastic vertebral bodies, Splenomegaly, Beaking of vertebral bodies, Platyspondyly	OMIM:618641
Marden-Walker Syndrome	Hypospadias, Short neck, Kyphosis, Cryptorchidism, Renal hypoplasia, Seizure, Congenital contract...	OMIM:248700
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia	OMIM:612561
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Hyperlordosis, Kyphosis, Seizure, Scoliosis	OMIM:617011
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure...	ORPHA:168491
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Developmental And Epileptic Encephalopathy 47	Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:617166
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Rickets	OMIM:607765
Developmental And Epileptic Encephalopathy 90	Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:301058
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Seizure, Knee flexion contracture	OMIM:603387
Kinsship Syndrome	Osteopenia, Sacral dimple, Bilateral tonic-clonic seizure, Short neck, Focal-onset seizure, Gener...	OMIM:619297
15Q14 Microdeletion Syndrome	Kyphosis, Seizure, Scoliosis	ORPHA:261190
Saccharopinuria	Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Keutel Syndrome	Alopecia, Short stature	ORPHA:85202
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Short stature, Ataxia, Tremor, Dorsal hirsutism, Gait ataxia, Growth delay, Cerebellar hypoplasia...	OMIM:300998
Arthrogryposis And Ectodermal Dysplasia	Arthrogryposis multiplex congenita, Joint contracture of the hand, Kyphoscoliosis, Camptodactyly	OMIM:601701
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Oliver Syndrome	Bilateral tonic-clonic seizure, Camptodactyly of finger, Elbow flexion contracture, Knee flexion ...	ORPHA:2920
Intellectual Developmental Disorder, X-Linked 30	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300558
Sponastrime Dysplasia	Joint laxity, Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Delayed epiphyseal ossification,...	ORPHA:93357
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetrapa...	OMIM:617186
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Joint laxity, Thoracic scoliosis, Absent sternal ossification...	OMIM:114290
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Dysplastic sacrum, Severe platyspondyly, Short neck	OMIM:613320
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp...	ORPHA:464
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Bilateral tonic-clonic seizure, Urinary incontinence, Fractures of the long b...	ORPHA:496641
De Barsy Syndrome	Osteopenia, Cryptorchidism, Generalized joint laxity, Kyphoscoliosis	ORPHA:2962
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte...	OMIM:619636
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Kyphosis, Ch...	ORPHA:1855
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Coronal cleft vertebrae, Decreased calvarial ossification, Platyspondyly,...	OMIM:620076
Cantú Syndrome	Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, Platyspondyly	ORPHA:1517
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red...	OMIM:617052
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Macroorchidism, Pancytopenia, Osteomalacia, R...	ORPHA:562
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Seizure, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Bladder diverticulum, Atlantoaxial instability, Kyphoscoliosis	OMIM:614557
Marshall-Smith Syndrome	Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu...	OMIM:602535
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Kyphoscoliosis, Atlantoaxial instability, Osteoporosis, Bl...	ORPHA:536545
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Abnormality of the ureter, Hemivertebrae, Elbow flexion contracture, Abnormal sac...	OMIM:200980
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Kagami-Ogata Syndrome	Seizure, Limitation of joint mobility, Kyphoscoliosis, Short neck	ORPHA:254519
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Rickets	ORPHA:79303
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Kyphosis, Seizure, Joint hyperflexibility, Scoliosis	ORPHA:2479
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Scoliosis	ORPHA:99956
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Urinary incontinence, Short neck, Kyphosis, Achilles tendon contracture, Flexion...	OMIM:301041
Kury-Isidor Syndrome	Growth delay, Alopecia, Hypertrichosis	OMIM:619762
Developmental And Epileptic Encephalopathy 61	Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617933
X Small Rings	Joint laxity, Bilateral tonic-clonic seizure, Short neck, Osteoporosis, Reduced bone mineral dens...	ORPHA:96201
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus...	ORPHA:220493
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Short stature, Ataxia, Obesity, Difficulty walking	ORPHA:98907
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Abnormal...	ORPHA:3109
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur...	OMIM:612164
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Bilateral tonic-clonic seizure, Craniosynostosis, Generalized non-motor (absence) sei...	ORPHA:369837
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Hyperlordosis, Bone cyst, Seizure, Granuloma, Scoliosis, Hydronephrosis, Joint hy...	ORPHA:363700
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco...	ORPHA:2050
Weaver Syndrome	Bilateral tonic-clonic seizure, Kyphosis, Cryptorchidism, Generalized non-motor (absence) seizure...	OMIM:277590
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Epileptic spasm, Myeloid leukemia, Hypospadias, Kyphoscoliosis, Short ne...	ORPHA:798
Classic Phenylketonuria	Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Hypertonia, Hemiplegia	ORPHA:79254
Martsolf Syndrome 1	Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Cryptorchidism, Finger joint hypermobilit...	OMIM:212720
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:618170
19P13.12 Microdeletion Syndrome	Hypospadias, Craniosynostosis, Short neck, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Arthrogr...	ORPHA:254346
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Bilateral tonic-clonic seizure with focal onset, Focal motor sta...	OMIM:614652
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Heparan sulfate excretion in urine, Kyphosis, Contractu...	OMIM:607015
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Faciocardiomelic Syndrome	Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex	OMIM:612731
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Osteoarthritis, Cervical spine instability, Congenital finger flexion contracture...	OMIM:615582
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossification, Cuboid-shap...	OMIM:611717
Johanson-Blizzard Syndrome	Alopecia, Short stature, Abnormal hair pattern, Intrauterine growth retardation, Failure to thrive	ORPHA:2315
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Joint laxity, Hip contracture, Kyphoscoliosis, Knee flexion contracture, Seizure	ORPHA:488642
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia	OMIM:607426
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Platyspondyly, Scoliosis, Moderate albuminuria, Hydronephrosis	OMIM:619269
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Joint stiffnes...	ORPHA:505248
Marfanoid Habitus With Situs Inversus	Kyphosis, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Sillence Syndrome	Back pain, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morphology, Intervertebral...	ORPHA:3168
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Te...	OMIM:616586
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Fibrochondrogenesis 2	Platyspondyly	OMIM:614524
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Bilateral tonic-clonic seizure, Ankle flexion contracture	OMIM:618120
Hyperphosphatasia-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Short neck, Seizure, Myoclonus, Scoliosis, Hydronephrosis	ORPHA:247262
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Hematuria,...	OMIM:161200
Short Syndrome	Sparse hair, Alopecia, Severe short stature, Weight loss	ORPHA:3163
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sparse hair	OMIM:607626
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Ataxia, Pterygium of nails, P...	OMIM:305000
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure, Limitation of joint mobility, Osteoporosis, Organic aciduria, Dec...	ORPHA:99742
Ring Chromosome 12 Syndrome	Cryptorchidism, Lumbar hyperlordosis, Symphalangism of the thumb, Glandular hypospadias	ORPHA:1439
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Increased urinary cortisol level, Osteoporosis	OMIM:610489
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:619877
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Kyphoscoliosis, Hyperlordosis, Ankle flexion contracture, Flexion contracture, E...	ORPHA:2020
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth retardation, Failu...	OMIM:620040
Melnick-Needles Syndrome	Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Osteolytic defects o...	OMIM:309350
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Congenital Myopathy 13	Cryptorchidism, Kyphoscoliosis, Flexion contracture, Scoliosis	OMIM:255995
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Short neck, Generalized non-motor...	OMIM:301091
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Fine hair, ...	OMIM:612199
Microcephaly 29, Primary, Autosomal Recessive	Ataxia, Enlarged cerebellum, Thick eyebrow	OMIM:620047
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Recurrent fractures, Short neck, Camptodactyly of finger, Joint stiffne...	ORPHA:2176
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly, Limit...	OMIM:271700
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Paresthesia, Nail dystrophy, Nail dysplasia	OMIM:175500
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Hyp...	OMIM:615574
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615716
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Joint stiffness, Elbow flexion contracture, Spinal canal stenosis, Scoliosi...	OMIM:608328
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure	OMIM:540000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck	ORPHA:3082
Marinesco-Sjogren Syndrome	Kyphosis, Flexion contracture, Scoliosis	OMIM:248800
Argininemia	Cerebellar atrophy, Postnatal growth retardation, Progressive spastic quadriplegia, Spastic parap...	OMIM:207800
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Oste...	OMIM:620351
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Sacral dimple, Generalized-onset seizure, Hypospadias, Craniosynostosis, Hyperlordo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Sacral dimple, Generalized-onset seizure, Hypospadias, Craniosynostosis, Hyperlordo...	ORPHA:363958
Trichodermodysplasia-Dental Alterations Syndrome	Scoliosis, Hyperlordosis	ORPHA:3353
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Short stature, Ataxia, Tremor, Paronychia, Alopecia of scalp	OMIM:201100
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Seizure, S...	OMIM:613658
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Seizure, Scoliosis	ORPHA:261144
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Scoliosis	ORPHA:391474
Macs Syndrome	Alopecia, Short stature, Sparse eyebrow, Decreased body weight, Sparse hair	OMIM:613075
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Trisomy 13	Kyphosis, Cryptorchidism, Abnormality of the ureter, Seizure, Multiple renal cysts, Scoliosis, Di...	ORPHA:3378
Spastic Ataxia 5, Autosomal Recessive	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614487
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Thanatophoric Dysplasia, Type Ii	Platyspondyly	OMIM:187601
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Camptodactyly of finger, Kyphosis, Cryptorc...	OMIM:309000
Fucosidosis	Kyphosis, Mucopolysacchariduria, Seizure, Anterior beaking of lumbar vertebrae	ORPHA:349
Aspartylglucosaminuria	Joint laxity, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Seizure, Platyspondyly, S...	OMIM:208400
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Hypospadias, Kyphosis, Cryptorchidism, Seizure, Vertebral...	ORPHA:96169
Dk1-Cdg	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:91131
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Seizure	OMIM:619909
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure	ORPHA:53583
15Q24 Microdeletion Syndrome	Joint laxity, Hypospadias, Kyphosis, Cryptorchidism, Microphallus, Scoliosis	ORPHA:94065
Hurler Syndrome	Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process, Kyphosis, Cra...	OMIM:607014
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Short stature, Ataxia, Highly arched eyebrow, Tremor, Growth delay,...	ORPHA:2754
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal...	ORPHA:363558
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Kyphoscoliosis, Acanthocytosis, Anemia	ORPHA:14
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob...	ORPHA:89936
Leopard Syndrome 1	Hypospadias, Kyphoscoliosis, Short neck, Unilateral renal agenesis, Cryptorchidism, Limited elbow...	OMIM:151100
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy	OMIM:146500
Micro Syndrome	Hypoplasia of penis, Joint stiffness, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Hydronephrosis	ORPHA:2510
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent...	OMIM:254900
Occipital Horn Syndrome	Joint laxity, Kyphosis, Capitate-hamate fusion, Osteoporosis, Hydronephrosis, Seizure, Platyspond...	OMIM:304150
Ataxia-Telangiectasia	Dystonia, Short stature, Ataxia, Abnormal hair morphology, Tremor, Inability to walk, Slurred spe...	OMIM:208900
Dyggve-Melchior-Clausen Disease	Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplates, Atlantoax...	ORPHA:239
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Bilateral tonic-clonic seizure, Di...	ORPHA:42
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Short neck, Kyphosis, Cryptorchidism, Sclerosis of skull ba...	OMIM:130720
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased body weight, Hirsutism	OMIM:615830
Juvenile Neuronal Ceroid Lipofuscinosis	Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:79264
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:313772
Distal Triplication 15Q	Craniosynostosis, Kyphosis, Flexion contracture, Horseshoe kidney, Hydrocele testis, Scoliosis, P...	ORPHA:314588
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pain insensitivity, Short stature, Babinski sign, Lower limb hypertonia, Patchy alopecia, Shuffli...	OMIM:300534
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Greenberg Dysplasia	Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, Patchy variatio...	OMIM:215140
Lowry-Wood Syndrome	Platyspondyly, Joint stiffness	ORPHA:1824
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Osteoporosis, Kyphoscoliosis	OMIM:268400
Lissencephaly 9 With Complex Brainstem Malformation	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar...	OMIM:618325
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Postnatal growth retardation, Hypoplastic fingernail	ORPHA:2457
Cono-Spondylar Dysplasia	Kyphosis, Seizure, Scoliosis, Short neck	ORPHA:420794
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Alopecia, Cerebral palsy, Opisthotonus	OMIM:210210
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology	ORPHA:659
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Joint hypermobility	OMIM:617101
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Cryptorchidism, Seizure, Scoliosis, Febrile seizure (within the age range of 3 months t...	ORPHA:404440
Hutchinson-Gilford Progeria Syndrome	Growth delay, Alopecia	OMIM:176670
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Hypospadias, Multiple joint contractures, Short neck, Crypto...	OMIM:305450
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Multifocal seizures, Hyperlordosis, Hepatosplenomegaly, Seizure, Limited elbow extension	OMIM:301066
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Emanuel Syndrome	Sacral dimple, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Renal hypoplasia, Seizure, Jo...	OMIM:609029
Lethal Kniest-Like Dysplasia	Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Short neck	ORPHA:2347
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Short stature, Absent eyel...	OMIM:308205
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hyd...	ORPHA:1454
Orofaciodigital Syndrome I	Alopecia, Dry hair, Short stature, Myelomeningocele, Hydrocephalus, Sparse hair, Cerebellar cyst	OMIM:311200
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Camptodactyly of finger, Short neck, Kyphosis, Seizure, Joint hyperflexibili...	ORPHA:85293
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Kyphoscoliosis, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Synostosis of the pro...	OMIM:300967
Distal Deletion 12Q	Unilateral cryptorchidism, Kyphoscoliosis, Ectopic kidney, Short neck, Elbow flexion contracture,...	ORPHA:96149
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Scoliosis, Tracheo...	ORPHA:140
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Sclerosis of skull base, Platyspondyly, Thin bony cortex	OMIM:619727
Rett Syndrome	Kyphosis, Seizure, Scoliosis	OMIM:312750
Gapo Syndrome	Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Growth delay	ORPHA:2067
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Lumbar hyperlordosis, Scoliosis	OMIM:250420
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Seizure, Aminoaciduria, Status epilepticus, Focal clonic seizure,...	OMIM:220120
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Tall stature, Cerebellar dysplasia	ORPHA:8
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Bilateral tonic-clonic seizure, Hypospadias, Short neck, Cryptorchi...	OMIM:257300
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sacral dimple, Bilateral tonic-clonic seizure, Hypospadias, Focal-onset seizure, Cryptorchidism, ...	ORPHA:459070
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Abnormal eyelash morphology, Abn...	ORPHA:2273
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Kyphoscoliosis, Cryptorchidism, Hemiverte...	ORPHA:97360
Intellectual Developmental Disorder, Autosomal Dominant 42	Ureteropelvic junction obstruction, Neurogenic bladder, Bilateral tonic-clonic seizure, Infantile...	OMIM:616973
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Palmoplantar keratoderma	OMIM:618373
Multiple Endocrine Neoplasia Type 2	Joint laxity, Elevated urinary catecholamine level, Kyphoscoliosis, Elevated urinary norepinephri...	ORPHA:653
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Polycythemia, Astrocytosis	ORPHA:309854
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Bilateral tonic-clonic seizure	OMIM:618832
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Seizure	OMIM:300942
Cdags Syndrome	Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Lambdoidal craniosynosto...	OMIM:603116
Omenn Syndrome	Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis	ORPHA:2075
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Seizure, Finger joint hypermobility, Scoliosis	OMIM:618493
Lead Poisoning	Cranial hyperostosis, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Tonic seizure, Hyperlordosis, Cryptorchidism, Typical absence seizure, Enuresis noc...	OMIM:615873
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Dandy-Walker malformation, Short s...	OMIM:264090
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Osteopetrosis...	OMIM:620366
Distal 22Q11.2 Microdeletion Syndrome	Seizure, Joint hyperflexibility, Camptodactyly of finger, Hyperlordosis	ORPHA:261330
Thanatophoric Dysplasia, Type I	Platyspondyly, Severe platyspondyly, Short neck	OMIM:187600
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty	ORPHA:90154
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch...	OMIM:158310
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur...	OMIM:619983
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Seizure, Cryptorchidism	OMIM:619244
Sandhoff Disease, Infantile Form	Bilateral tonic-clonic seizure, Hepatosplenomegaly, Myoclonic seizure, Seizure, Myoclonus	ORPHA:309155
Holt-Oram Syndrome	Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness	ORPHA:392
Saul-Wilson Syndrome	Irregular vertebral endplates, Platyspondyly, Neutropenia, Hypoplasia of the odontoid process	OMIM:618150
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ...	ORPHA:466768
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer...	OMIM:212065
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Craniosynostosis, Short neck, Joint hypermobility, Osteoporosis,...	OMIM:245600
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe...	ORPHA:64280
Mucopolysaccharidosis, Type Ii	Short neck, Heparan sulfate excretion in urine, Kyphosis, Splenomegaly, Flexion contracture, Derm...	OMIM:309900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Lissencephaly Due To Tuba1A Mutation	Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:171680
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, T lymphocytopen...	OMIM:619381
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Delayed ossification of carpal bones, Ovoid vertebral bodies, Scoliosis	OMIM:607778
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Infantile spasms, Kyphosi...	ORPHA:79329
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Tremor, Coarse hair, Dystonia, Sparse hair, Dandy-Walker malforma...	ORPHA:2750
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hypoplastic vertebral bodies, Seizure, Platyspondyly, Urinary glycosaminoglyc...	ORPHA:79255
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater...	ORPHA:98795
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hyperlordosis, Flexion contracture, Osteoporosis, Oligosacchariduria, Scoliosis	ORPHA:365
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Scoliosis, Cryptorchidism	ORPHA:90322
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly	ORPHA:163966
Developmental And Epileptic Encephalopathy 8	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure	OMIM:300607
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Seizure, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:619911
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Bilateral tonic-clonic seizure, Recurrent fractures	ORPHA:453510
Postencephalitic Parkinsonism	Kyphosis, Camptocormia, Seizure	ORPHA:97349
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Short neck	OMIM:615802
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ...	ORPHA:98889
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ...	OMIM:614008
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair, Growth delay	OMIM:608612
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei...	OMIM:614231
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure, Pure red cell aplasia, Erythroid hypoplasia, Testicular atrophy, ...	OMIM:618165
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Cowden Syndrome 5	Hydrocele testis, Kyphosis, Seizure, Scoliosis	OMIM:615108
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Cockayne Syndrome B	Dry hair, Severe short stature, Ataxia, Cerebellar calcifications, Small for gestational age, Abn...	OMIM:133540
Xeroderma Pigmentosum	Alopecia, Short stature, Ataxia, Hyperkeratosis, Abnormality of extrapyramidal motor function, Sp...	ORPHA:910
Giant Cell Arteritis	Alopecia, Ataxia, Paresthesia, Weight loss	ORPHA:397
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	ORPHA:501
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Arthrogryposis m...	ORPHA:2671
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Anemia	OMIM:300755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th...	OMIM:102700
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Bilateral tonic-clonic seizure, Increased urinary sulfite level, Xanthi...	OMIM:252160
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Growth delay, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Neurofibroma	Spinal canal stenosis, Kyphoscoliosis	ORPHA:252183
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Palmoplantar keratoderma, Nail dystrophy, Difficulty walking, Follicular hyperkera...	ORPHA:158668
Alstrom Syndrome	Truncal obesity, Alopecia, Short stature	OMIM:203800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Epileptic spa...	ORPHA:2636
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Horseshoe kidney, Fused cervic...	ORPHA:1724
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le...	ORPHA:99867
16Q24.3 Microdeletion Syndrome	Kyphosis, Cryptorchidism, Seizure, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia	ORPHA:261250
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgin...	OMIM:300106
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure, Hydronephrosis, Focal impaired awareness seizure	ORPHA:488613
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Bilateral tonic-clonic seizure, Hypospadias, Unilateral renal agenesis, Kyphosis, ...	ORPHA:268261
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Seizure, Joint hyperf...	ORPHA:192
H Syndrome	Abnormal eyebrow morphology, Alopecia, Short stature, Hydrocephalus, Delayed puberty, Hypertrichosis	ORPHA:168569
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Short stature, Abnormal ey...	ORPHA:1775
Platyspondylic Dysplasia, Torrance Type	Platyspondyly	ORPHA:85166
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Dysplast...	OMIM:265000
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Elevated urinary N-acetylaspartic acid level	OMIM:271900
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Thoracolumbar kyphoscoliosis, Short neck	ORPHA:231720
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Interphalangeal joint contracture of finger, Kyphoscoliosis, Short neck, Cryptorchidism, Flexion ...	ORPHA:96334
3C Syndrome	Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Hydronephrosis	ORPHA:7
Cockayne Syndrome A	Cerebellar atrophy, Dry hair, Short stature, Ataxia, Tremor, Severe postnatal growth retardation,...	OMIM:216400
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Ketonuria, Infantile spasms, Hypoglycemic se...	ORPHA:480864
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Cryptorchidism, Flexion contracture, Seizure, Scoliosis, Micropenis	ORPHA:500055
Genitourinary And/Or Brain Malformation Syndrome	Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidism, Chordee, Micropenis, Urogenital sin...	OMIM:618820
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Sacral dimple, Short neck, Hyperlordosis, Focal-onset seizure, Unilateral renal hypoplasia, Seizu...	OMIM:619950
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo...	OMIM:615709
Cowden Syndrome 6	Hydrocele testis, Kyphosis, Seizure, Scoliosis	OMIM:615109
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Short stature, Small for gestational ...	ORPHA:2909
Hemochromatosis, Type 1	Alopecia	OMIM:235200
D-Bifunctional Protein Deficiency	Osteopenia, Bilateral tonic-clonic seizure, Splenomegaly, Renal cyst, Seizure, Gliosis	OMIM:261515
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Breast aplasia	ORPHA:90153
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Myoclonus	ORPHA:254881
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Tremor, Absent thumbnail, Choreoathetosis, Myoclonus, Dystonia, Episodic atax...	ORPHA:1934
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Seizure, Scoliosis, Hydronephrosis	OMIM:616449
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Osteolysis, Rickets, Bladder diverticulum, Plat...	ORPHA:198
Classic Homocystinuria	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Seizure, Scoliosis	ORPHA:394
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Bilateral tonic-clonic seizure, Urinary incontinence, Myoclonic seizure	OMIM:620070
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Failure to thrive	OMIM:304790
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Camptodactyly, Cryptorchidism	OMIM:619123
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis	ORPHA:522077
Cystinosis	Rickets	ORPHA:213
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphal...	OMIM:618223
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Hypophosphaturia, Hyperlordosis, Hypocalciuria	ORPHA:73223
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog...	ORPHA:254892
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Seizure, Scoliosis	OMIM:617061
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Hyperkeratosis, Spas...	OMIM:618527
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Urinary incontinence, Scoliosis	ORPHA:88644
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Short neck, Joint stiffness, Cranial hy...	ORPHA:309282
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia	OMIM:615758
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Small for gestational age, Alopecia totalis	OMIM:618775
Hyperlysinemia	Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di...	ORPHA:2203
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas...	ORPHA:83471
Glass Syndrome	Bilateral tonic-clonic seizure, Seizure, Camptodactyly, Febrile seizure (within the age range of ...	OMIM:612313
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Short stature, Hyperkeratosis, Mild intrauterine growth retardation, Sma...	OMIM:308050
Cowden Syndrome 1	Kyphosis, Hydrocele testis, Seizure, Scoliosis, Lymphopenia	OMIM:158350
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Limb joint contracture, Kyphoscoliosis, Ankylosis, Flexion con...	OMIM:275210
Wrinkly Skin Syndrome	Osteopenia, Kyphoscoliosis, Cryptorchidism, Generalized joint laxity, Status epilepticus	ORPHA:2834
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure...	OMIM:619580
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ...	OMIM:277900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Bilateral tonic-clonic seizure, Nephrolithiasis, Seizure, Focal impaired awareness seizure, Focal...	ORPHA:369929
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Kyphosis, Cryptorchidism, Flexion contracture, Osteoporosis, Seizure, Scoliosis, Micr...	ORPHA:398069
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures	OMIM:619725
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Unila...	ORPHA:500150
Tyrosinemia Type 2	Ataxia, Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizure, Micropen...	OMIM:617798
Poland Syndrome	Hypospadias, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Renal hypoplasia, Finger sympha...	ORPHA:2911
Floating-Harbor Syndrome	Joint laxity, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Kyphoscoliosis, S...	OMIM:136140
Noonan Syndrome 14	Short neck, Cryptorchidism, Kyphosis, Lymphopenia, Limited elbow extension	OMIM:619745
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Growth delay, Palmoplantar keratoderma, Nail dystrophy, Failure to thrive, Onychogryposis	ORPHA:79396
Otopalatodigital Syndrome, Type Ii	Hypospadias, Elbow contracture, Kyphoscoliosis, Short neck, Cryptorchidism, Sclerosis of skull ba...	OMIM:304120
Holocarboxylase Synthetase Deficiency	Alopecia, Hypertonia	OMIM:253270
Biotinidase Deficiency	Myelopathy, Alopecia, Ataxia, Spastic paraparesis	ORPHA:79241
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Mogs-Cdg	Alopecia, Long eyelashes, Dystonia, Fair hair, Hirsutism	ORPHA:79330
Pyruvate Carboxylase Deficiency	Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Growth delay, Tip-toe gait, Dystonia...	ORPHA:3008
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Vesicoureteral ref...	OMIM:610443
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Kyphoscoliosis, Bilateral cryptorchidism, Knee flexion contracture, Nephrocalcinosi...	OMIM:617402
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Advanced ossification of carpal bones, Irregular vertebral endplates, P...	OMIM:610442
Intellectual Developmental Disorder, X-Linked 98	Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spasms, Tonic seizure, Steroid-de...	OMIM:300912
Stuve-Wiedemann Syndrome 1	Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow flexion contracture,...	OMIM:601559
Hajdu-Cheney Syndrome	Osteopenia, Hypospadias, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Kypho...	ORPHA:955
Marfan Syndrome	Kyphoscoliosis, Flexion contracture, Premature osteoarthritis, Scoliosis, Camptodactyly, Limited ...	OMIM:154700
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Renal cyst, Seizure, Scoliosis, Vesicoureteral...	OMIM:616975
Fibrochondrogenesis 1	Short neck, Platyspondyly, Camptodactyly, Joint contracture of the hand, Posterior vertebral hypo...	OMIM:228520
Iniencephaly	Arthrogryposis multiplex congenita, Absent vertebra, Hyperlordosis	ORPHA:63259
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure, Urinary incontinence, Focal hyperkinetic seizure	ORPHA:98784
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:268940
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Writer's cramp, Paresthesia, Abnormality of the nail, C...	ORPHA:428
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly, Joint hypermobility	OMIM:617602
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp...	OMIM:230740
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm...	OMIM:106260
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Generalized non-motor (abs...	ORPHA:79351
Cohen Syndrome	Kyphosis, Cryptorchidism, Seizure, Joint hyperflexibility, Scoliosis, Neutropenia	ORPHA:193
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Bilateral tonic-clonic seizure, Pure red cell aplasia, Autoimmune th...	ORPHA:436159
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Bilateral tonic-clonic seizure, Protei...	ORPHA:355
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Scoliosis	OMIM:619557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cerebellar dysplasia, Hydrocephalus, Partial absence of cerebellar vermis, Cerebel...	OMIM:613150
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:616672
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Micropenis, Thr...	OMIM:619005
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Arthritis, Lymphocytosis, Thrombocytosis, Reduced natur...	OMIM:301074
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Opsismodysplasia	Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Renal phosphate was...	OMIM:258480
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypospadias, Irregular sclerotic endplates, Kyphoscoliosis, Camptodactyly of finger, ...	ORPHA:3455
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Hypertonia, Cerebell...	ORPHA:86309
Fanconi-Bickel Syndrome	Osteopenia, Rickets	ORPHA:2088
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Micropenis, Spina bifida occulta, Thickened cortex of long bones	ORPHA:488434
Pediatric Systemic Lupus Erythematosus	Hemiplegia, Alopecia	ORPHA:93552
Sotos Syndrome	Ureteral duplication, Astrocytoma, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral...	ORPHA:821
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Upper mo...	ORPHA:646
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Myoclonus	OMIM:607876
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Hypospadias, Joint stiffness, Epispadias, C...	ORPHA:2588
Williams Syndrome	Osteopenia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Nephrocalcinosis, Vertebr...	ORPHA:904
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Postnatal growth retardation, Growth delay, Onychogryposis	OMIM:248370
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Hypospadias, Simple febrile seizure, Unilateral renal agenesis, An...	ORPHA:464311
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Myoclonic seizure, Hypoplastic coc...	OMIM:619512
Hyperekplexia 3	Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Short stature, Alopecia totalis, Small for gestational age, Growth delay,...	ORPHA:221008
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Seizure, Lymphopenia, Knee flexion contracture	OMIM:619708
Chédiak-Higashi Syndrome	Cerebellar atrophy, Hypopigmentation of hair, Somatic sensory dysfunction, Ataxia, Parkinsonism, ...	ORPHA:167
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized myoclonic seizure, Increased urinary taurine, Generalized-onset seizure, Bilateral to...	OMIM:615501
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Short stature, Hirsutism	ORPHA:90795
Encephalocraniocutaneous Lipomatosis	Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemiparesis, Hypertonia,...	ORPHA:2396
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Osteomalacia, Cryptorchidism, Seizure, Azoos...	ORPHA:534
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Joint laxity, Kyphoscoliosis, Bilateral cryptorchidism, Cryptorchidism, Seizure, Synostosis invol...	ORPHA:466791
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Kyphoscoliosis, ...	OMIM:163950
Developmental And Epileptic Encephalopathy 49	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus	OMIM:617281
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Nail dystrophy, Alopecia universalis	OMIM:240300
Neuromuscular Oculoauditory Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Knee flexion contracture, Multiple renal cysts,...	OMIM:618733
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Osteoglophonic Dysplasia	Osteopenia, Hypospadias, Camptodactyly of finger, Craniosynostosis, Short neck, Cryptorchidism, I...	OMIM:166250
Rett Syndrome, Congenital Variant	Kyphosis, Seizure, Scoliosis	OMIM:613454
Lujo Hemorrhagic Fever	Lymphopenia, Renal insufficiency, Stiff neck, Bilateral tonic-clonic seizure, Leukocytosis, Oligu...	ORPHA:319213
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure, Elevated hemoglobin A1c	OMIM:619278
Floating-Harbor Syndrome	Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Stage 5 chronic kidney disease, Renal cy...	ORPHA:2044
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,...	OMIM:168600
Ramon Syndrome	Kyphosis, Seizure, Juvenile rheumatoid arthritis, Scoliosis	OMIM:266270
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Failure to thrive, Short stature, Abnormal hair morphology, Abn...	ORPHA:79474
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Seizure, Vertebral segmentation de...	ORPHA:251014
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Seizure, Urinary incontinence, Scoliosis	ORPHA:476126
Prader-Willi Syndrome	Osteopenia, Kyphosis, Cryptorchidism, Osteoporosis, Seizure, Scoliosis, Micropenis	OMIM:176270
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Abdominal obesity, Increased body weight, Hirsutism	ORPHA:189427
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Kyphosis, Cryptorchidism, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:2215
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu...	OMIM:301044
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Platyspondyly	ORPHA:50945
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Normochromic anem...	OMIM:615512
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Short stature, Alopecia totalis, Small for gestational age, Growth delay,...	ORPHA:221016
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Leprosy	Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ...	ORPHA:548
Omenn Syndrome	Alopecia, Failure to thrive	OMIM:603554
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Myoglobinuria, Bilateral tonic-clonic seizure, Recurrent myoglobinuria	OMIM:620300
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure, Hypospadias	ORPHA:79350
Hermansky-Pudlak Syndrome 10	Splenomegaly, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Neutropenia	OMIM:617050
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Generalized-onset seizure, Seizure, Contractures of the large joints	OMIM:617527
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Mulibrey Nanism	Thickened cortex of long bones	OMIM:253250
Immunodeficiency 7	Failure to thrive, Patchy alopecia	OMIM:615387
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Dystonia, Highly arched eyebrow, Small for gestational age,...	OMIM:220111
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia, Joint stiffness	ORPHA:847
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei...	ORPHA:395
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Renal insufficiency, Kyphoscoliosis, Urethral stenosis, Osteoporosis, R...	OMIM:194050
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Hypertrichosis	OMIM:263700
17Q11 Microdeletion Syndrome	Osteopenia, Glioma, Cerebellar glioma, Kyphosis, Focal-onset seizure, Brainstem glioma, Osteoporo...	ORPHA:97685
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hyperextensibility of the finger joints, Sacral dimple, Hip contracture, Hemolytic ...	OMIM:619503
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Bilateral tonic-clonic seizure, Exercise-induced myoglobinuria	OMIM:201475
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure, HbH hemoglobin	ORPHA:423479
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Hypospadias, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Re...	ORPHA:464306
Atelis Syndrome 2	Sacral dimple, Kyphosis, Anemia, Seizure, Thrombocytopenia	OMIM:620185
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Hyperextensibility of the finger joints, Craniosynostosis	OMIM:616914
African Trypanosomiasis	Alopecia, Abnormal central motor function, Somatic sensory dysfunction, Involuntary movements, Ak...	ORPHA:3385
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Camptodactyly ...	ORPHA:2461
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa...	OMIM:241080
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Epileptic spasm, Cryptorchidism, Osteoporosis, Nephrolithiasis, Seizure...	ORPHA:438213
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Kyphosis, Cryptorchidism, Osteoporosis, Abnormal form of the vertebra...	ORPHA:280
Japanese Encephalitis	Stiff neck, Bilateral tonic-clonic seizure, Neutrophilia, Elbow flexion contracture, Focal motor ...	ORPHA:79139
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Nail dystrophy, Failure to thrive, Abnormality of the periungual region	ORPHA:293978
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Seizure, Hyperextensibility of the finger joints, Contractures of the large joints	ORPHA:521426
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Camptodactyly of finger, Kyphosis, Hydronephrosis, Scoliosis, Decre...	ORPHA:261349
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Bilateral tonic-clonic seizure, Sagittal crani...	ORPHA:79500
W Syndrome	Bilateral tonic-clonic seizure, Camptodactyly	ORPHA:2804
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Seizure, Male urethral meatus stenosis, Scoliosis, Hydronephrosis, Contrac...	ORPHA:464738
Sandhoff Disease	Hepatosplenomegaly, Bilateral tonic-clonic seizure, Urinary incontinence, Myoclonic seizure	OMIM:268800
Vici Syndrome	Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:242840
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Hypospadias	OMIM:609944
Insulin-Resistance Syndrome Type B	Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ...	ORPHA:2298
Melas	Bilateral tonic-clonic seizure, Proteinuria, Focal-onset seizure, Seizure, Focal segmental glomer...	ORPHA:550
Webb-Dattani Syndrome	Neurogenic bladder, Bilateral tonic-clonic seizure, Cryptorchidism, Hyposthenuria, Vesicoureteral...	OMIM:615926
Monosomy 9Q22.3	Short neck, Kyphosis, Joint hyperflexibility, Seizure, Abnormality of the vertebral column	ORPHA:77301
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Bilateral tonic-clonic seizure	OMIM:300578
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Renal hypoplasia, Seizure, Vesicouretera...	OMIM:309580
Trichotillomania	Alopecia	OMIM:613229
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Cryptorchidism, Fused cervical vertebrae, Coronal cleft verte...	OMIM:108720
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Coronal craniosynostosis, Hypospadias, Tarsal synostosis	ORPHA:85199
Intellectual Developmental Disorder, Autosomal Dominant 54	Bilateral tonic-clonic seizure, Seizure, Urinary retention, Focal impaired awareness seizure, Neu...	OMIM:617799
Mucolipidosis Type Ii	Hip contracture, Craniosynostosis, Limited wrist movement, Kyphosis, Splenomegaly, Limitation of ...	ORPHA:576
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F...	OMIM:610042
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Intr...	OMIM:263650
Mixed Connective Tissue Disease	Alopecia	ORPHA:809
Stickler Syndrome	Kyphosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Reduced b...	ORPHA:828
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly, Vesicoureteral ref...	OMIM:616894
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Hypoplasia of the odontoid process, Atlantoaxial instability, Elbow flexion contractu...	OMIM:271665
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, Seizure	ORPHA:171629
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Failure to thrive in infancy, Nail dystrophy, Cachexia	ORPHA:37042
Zttk Syndrome	Polyuria, Craniosynostosis, Unilateral renal agenesis, Kyphosis, Flexion contracture, Hemivertebr...	OMIM:617140
Ogden Syndrome	Global glomerulosclerosis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Short neck,...	OMIM:300855
Woodhouse-Sakati Syndrome	Alopecia, Dystonia, Growth delay, Choreoathetosis, Delayed puberty, Aplasia/Hypoplasia of the eye...	ORPHA:3464
Marshall Syndrome	Platyspondyly, Knee osteoarthritis	OMIM:154780
Cleidocranial Dysplasia 1	Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S...	OMIM:119600
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Seizure, Urinary incontinence, Scoliosis	OMIM:619482
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia	OMIM:612301
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Bilateral tonic-clonic seizure, Nephrolithiasis, Myoclonic seizure	OMIM:615474
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Ureteral stenosis, Increased density of long bones, Hypospadias, Hydrour...	OMIM:269150
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, De...	ORPHA:3044
Branchiooculofacial Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contracture, Rena...	OMIM:113620
Cowden Syndrome	Abnormal penis morphology, Kyphosis, Bone cyst, Seizure, Scoliosis	ORPHA:201
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail, Spina bifida	ORPHA:2092
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Cryptorchidism, Kyphosis, El...	OMIM:619194
Juvenile Dermatomyositis	Alopecia, Weight loss	ORPHA:93672
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Unil...	OMIM:620024
Autosomal Dominant Robinow Syndrome	Alopecia, Severe short stature, Short stature, Curly eyelashes, Long eyelashes, Fingernail dyspla...	ORPHA:3107
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Hypospadias, Hydroureter, Kyphoscoliosis, Cryptorchidism, Renal hypoplasia,...	OMIM:309800
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria, Kyphoscoliosis, Osteoporosis,...	ORPHA:79318
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility	OMIM:211350
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Bilateral tonic-clonic seizure, Myoclonic seizure, Hydrocele testis, Seizure, Acute lymphoblastic...	OMIM:280000
Neurofibromatosis Type 1	Astrocytoma, Recurrent fractures, Joint stiffness, Kyphosis, Cryptorchidism, Chronic myelogenous ...	ORPHA:636
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Autosomal Recessive Robinow Syndrome	Disproportionate short-limb short stature, Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Seizure, Scoliosis, Hyperex...	OMIM:614756
Fatty Acid Hydroxylase-Associated Neurodegeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:329308
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Bilateral toni...	OMIM:147920
Cocaine Intoxication	Bilateral tonic-clonic seizure, Proteinuria, Glomerulonephritis, Focal-onset seizure, Atypical ab...	ORPHA:90068
Mend Syndrome	Sacral dimple, Kyphosis, Cryptorchidism, Seizure, Crossed fused renal ectopia	OMIM:300960
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Turner Syndrome Due To Structural X Chromosome Anomalies	Increased upper to lower segment ratio, Alopecia, Abnormal fingernail morphology, Short stature, ...	ORPHA:99413
Mosaic Monosomy X	Increased upper to lower segment ratio, Alopecia, Abnormal fingernail morphology, Short stature, ...	ORPHA:99228
Monosomy X	Increased upper to lower segment ratio, Alopecia, Abnormal fingernail morphology, Short stature, ...	ORPHA:99226
Turner Syndrome	Increased upper to lower segment ratio, Alopecia, Abnormal fingernail morphology, Short stature, ...	ORPHA:881
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Dilatation of renal calices, Generalized non-motor (absence) seiz...	ORPHA:466943
Cerebrocostomandibular Syndrome	Tracheomalacia, Kyphosis, Multicystic kidney dysplasia	ORPHA:1393
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Joint laxity, Bilateral tonic-clonic seizure, Short neck, Generalized non-motor (absence) seizure...	OMIM:612474
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Kyphosis, Osteoporosis, Scoliosis, Join...	ORPHA:558
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Failure to thrive, Paronychia, Growth delay, Nail dystrophy, Anonychia, Abnormality of ...	ORPHA:79404
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Lumbar hyperlordosis, Joint hypermobility	OMIM:618371
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Platyspondyly, Short neck	OMIM:250220
Systemic Sclerosis	Alopecia, Nail bed telangiectasia	ORPHA:90291
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Bilateral tonic-clonic seizure, Renal tubular dysfunction, Lower-limb joint contractur...	ORPHA:99885
Mend Syndrome	Kyphosis, Sacral dimple, Seizure, Cryptorchidism	ORPHA:401973
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure, Pelvic kidney, D...	ORPHA:466950
Phakomatosis Pigmentokeratotica	Hemiparesis, Hyperesthesia, Patchy alopecia, Spina bifida	ORPHA:2874
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Kyphosis, Cryptorchidism, Abnorma...	OMIM:194190
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Bilateral tonic-clonic seizure with focal onset, Chronic kidney disease, Seizure, Tu...	ORPHA:488627
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polycystic kidney dysplasia, Micropenis	OMIM:263520
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Kenny-Caffey Syndrome, Type 2	Seizure, Increased bone mineral density, Thickened cortex of long bones, Anemia	OMIM:127000
Bloom Syndrome	Sparse eyelashes, Small for gestational age, Paronychia, Growth delay, Severe postnatal growth re...	ORPHA:125
Alternating Hemiplegia Of Childhood	Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus	ORPHA:2131
Colchicine Poisoning	Alopecia	ORPHA:31824
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Hydrocephalus, Myelomeningocele, ...	OMIM:305600
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly	ORPHA:93317
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Multiple joint contractures, Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spas...	ORPHA:447997
Kikuchi-Fujimoto Disease	Alopecia, Ataxia, Weight loss	ORPHA:50918
Mitochondrial Dna-Associated Leigh Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Lacticaciduria, Seizure, Generalized myoclonic ...	ORPHA:255210
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Unilateral renal agenesis, Short neck, Acute myelomonocytic leukemia...	ORPHA:99646
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Bilateral tonic-clonic seizure, Short neck, Generalized non-motor (absence) seizure...	OMIM:620330
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Hydrocephalus, Myoclonus, Cerebellar hypoplasia, Spasticity, Cerebellar cyst	OMIM:253280
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Hartsfield Syndrome	Hypospadias, Bilateral tonic-clonic seizure, Craniosynostosis, Cryptorchidism, Micropenis	OMIM:615465
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short neck, Kyphosis, Cryptorchid...	ORPHA:818
Proteus Syndrome	Thymus hyperplasia, Macroorchidism, Craniosynostosis, Testicular neoplasm, Joint stiffness, Kypho...	ORPHA:744
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagla...	ORPHA:73224
Systemic Lupus Erythematosus	Alopecia, Chorea	ORPHA:536
Steinert Myotonic Dystrophy	Alopecia, Early balding, Inability to walk, Poor fine motor coordination, Gait disturbance, Falls	ORPHA:273
Cntnap2-Related Developmental And Epileptic Encephalopathy	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163681
Cystinosis, Nephropathic	Hypophosphatemic rickets, Splenomegaly, Rickets	OMIM:219800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure	OMIM:620066
Primrose Syndrome	Hip contracture, Joint hypermobility, Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Flexion...	OMIM:259050
Fontaine Progeroid Syndrome	Craniosynostosis, Cryptorchidism, Micropenis, Platyspondyly, Scoliosis, Coronal craniosynostosis	OMIM:612289
Scalp-Ear-Nipple Syndrome	Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasi...	OMIM:181270
Ring Chromosome 13 Syndrome	Growth delay, Alopecia, Anencephaly	ORPHA:96176
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Joint laxity, Osteomyelitis, Hypospadias, Infantile spasms, Kyphosis, Clonic seizure, ...	OMIM:619475
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Bilateral tonic-clonic seizure	OMIM:278800
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Bilateral tonic-clonic seizure, Hypospadias, Splenomegaly, Lactic...	OMIM:252010
Combined Oxidative Phosphorylation Deficiency 3	Seizure, Bilateral tonic-clonic seizure	OMIM:610505
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Joint stiffness, Kyphosis, Cryptorchid...	ORPHA:1606
Autoimmune Polyendocrinopathy Type 4	Alopecia	ORPHA:227990
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Weight loss, Patchy alopecia, Shuffling gait...	ORPHA:740
Autoimmune Polyendocrinopathy Type 3	Alopecia	ORPHA:227982
Wrinkly Skin Syndrome	Osteopenia, Kyphosis, Cryptorchidism, Scoliosis, Joint hypermobility	OMIM:278250
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Osteomalacia, Abnormal calcification of the carpal bones, Seizure, Fused cervi...	ORPHA:51608
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lower-limb join...	ORPHA:513456
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Kyphosis, Lumbar kyphosis, Seizure, Scoliosis	OMIM:303600
Pallister-Killian Syndrome	Sacral dimple, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Flexion contracture, Rena...	OMIM:601803
Coffin-Siris Syndrome 1	Joint laxity, Sacral dimple, Hydroureter, Hypospadias, Ectopic kidney, Kyphosis, Cryptorchidism, ...	OMIM:135900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:618426
Acromegaly	Dysuria, Kyphosis, Osteoarthritis, Long penis, Wide penis, Spinal canal stenosis	ORPHA:963
Relapsing Polychondritis	Alopecia	ORPHA:728
Chronic Graft Versus Host Disease	Alopecia, Onycholysis, Nail dystrophy, Weight loss	ORPHA:99921
Somatomammotropinoma	Dysuria, Kyphosis, Osteoarthritis, Spinal canal stenosis	ORPHA:314769
Viss Syndrome	Sparse scalp hair, Alopecia, Short stature, Failure to thrive, Hirsutism	OMIM:619472
Ring Chromosome 7 Syndrome	Hydrocele testis, Lumbar kyphoscoliosis, Hypospadias	ORPHA:1449
Choreoacanthocytosis	Bilateral tonic-clonic seizure, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, ...	ORPHA:2388
Sarcoidosis	Alopecia, Weight loss	ORPHA:797
Holoprosencephaly 14	Bilateral tonic-clonic seizure	OMIM:619895
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:614947
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Behcet Syndrome	Patchy alopecia	OMIM:109650
Vascular Ehlers-Danlos Syndrome	Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, Aplasia/Hypopl...	ORPHA:286
Yunis-Varon Syndrome	Absent sternal ossification, Hypospadias, Anterior concavity of thoracic vertebrae, Kyphosis, Cry...	OMIM:216340
Alström Syndrome	Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of th...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Acp2.

No publications found that use IMPC mice or data for Acp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Acp2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Acp2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us