Gene Summary

nuclear factor I/X

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

4 Images

Human diseases caused by Nfix mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
Matching phenotypes Source
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acet... ORPHA:93311
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Microcephaly, Spina bifida occulta, Agenesis of corpu... OMIM:618736
Masa Syndrome
Lower limb spasticity, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, ... OMIM:303350
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Ck Syndrome
Epicanthus, Slender build, Hyperlordosis, Microcephaly, Kyphosis, Almond-shaped palpebral fissure... OMIM:300831
Craniosynostosis 6
Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Latera... OMIM:616602
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... OMIM:600561
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Dystonia, Ataxia, M... OMIM:616756
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... ORPHA:99642
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... OMIM:609223
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Synophrys, Hyperintensity of ce... OMIM:620317
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Joint stiffness, Abnormal encho... ORPHA:2635
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Ove... ORPHA:500055
Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Gas... ORPHA:356961
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Mucolipidosis Type Iii
Craniofacial hyperostosis, Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies,... ORPHA:577
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebral... ORPHA:306669
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Failure to thrive in infancy, Craniosynostosis, Short neck, Ankle flexion... ORPHA:284417
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormal vertebral morphology, Ventricul... OMIM:618709
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspon... OMIM:617974
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Microcephaly 5, Primary, Autosomal Recessive
Short stature, Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern,... OMIM:608716
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Cavum septum pellucidum, Dilated third ventricle, Agenesis of corpus callosu... ORPHA:464738
Lissencephaly 4
Short stature, Simplified gyral pattern, Growth delay, Colpocephaly, Lissencephaly, Primary micro... OMIM:614019
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Congenital foot contraction deformities, Hyperlordosis, Flexion contracture, Hip d... ORPHA:363454
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Reduced bone mineral density, Thin corpus callosum, Cerebral cortical atrophy, Scol... OMIM:620200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis,... OMIM:615290
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern,... OMIM:619244
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Na... OMIM:602484
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... ORPHA:397715
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Overlapping fingers, Femu... OMIM:618291
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, Absent eyelashes, S... ORPHA:544488
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basa... ORPHA:300570
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossification of carpal bones... OMIM:618363
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Abnormal cerebral white matter morphology, Scoliosis, Limb hypertonia, Babins... ORPHA:565624
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... OMIM:177170
Ck Syndrome
Long toe, Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Microcephaly, Almond-shaped palpebral... ORPHA:251383
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Ankle c... ORPHA:363654
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Unsteady gait, Dysphagia, Ankle clonus, Hypertonia, Steppage gait, Dystonia... OMIM:617054
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Microcephaly, Kyphosis, Cortical dysplasia, Impaired propri... ORPHA:319199
Bowing of the long bones, Brachydactyly, Hyperlordosis, Osteoarthritis, Abnormality of the elbow,... ORPHA:429
Rigid Spine Syndrome
Waddling gait, Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstr... ORPHA:97244
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Microcephaly, Spastic diplegia, Lateral ventricle dilat... OMIM:619420
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Paresis of extensor muscles of the big toe, Somatic sensory dysfunc... ORPHA:99947
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Kyphosis, Osteoporosis, Abnormal pyramidal sign, Dysmetria, Long... ORPHA:48431
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Triangular shaped phalanges o... OMIM:618167
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... ORPHA:2310
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Flared iliac... OMIM:230650
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... OMIM:277950
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Dysplastic corpus callosum, Abnormal ear morphology, Primary microcephaly OMIM:618010
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, High palate, Cubitus valgus, C... OMIM:610313
Familial Anetoderma
High, narrow palate, Generalized joint laxity, Lumbar hyperlordosis, Abnormal tibia morphology ORPHA:228277
Joint dislocation, Enlarged joints, Cerebral calcification, Kyphoscoliosis, Osteoarthritis, Gener... ORPHA:85198
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Pyruvate Dehydrogenase E1-Alpha Deficiency
Periventricular leukomalacia, Small for gestational age, Ataxia, Microcephaly, Inability to walk,... ORPHA:79243
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d... OMIM:619656
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Osteoarthritis, Metaphyseal widening, Coxa vara, Sclerotic verte... OMIM:208230
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Temporal cortical atrophy, Paget disease of bone, Abnormal pelvi... OMIM:167320
Isolated Glycerol Kinase Deficiency
Osteoporosis, Scoliosis, Hyperlordosis ORPHA:408
Developmental And Epileptic Encephalopathy 36
Microcephaly, Hydrocephalus, Flexion contracture, Small hand, Abnormal pyramidal sign, Cerebral a... OMIM:300884
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... OMIM:265900
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossific... OMIM:618392
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hypertonia, High pal... OMIM:226980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Lumbar hyperlordosis, Impaired pain sensation, Limited knee flexion, Impaired d... ORPHA:435387
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High pal... OMIM:611209
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Hyperlordosis, Congenital ptosis, Gait disturbance, Difficulty walki... ORPHA:352470
Distal Deletion 10Q
Clonus, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinodactyly of the 5th fing... ORPHA:96148
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr... OMIM:616583
Malan Overgrowth Syndrome
Slender long bone, Lateral ventricle dilatation, High palate, Scoliosis, Hypoplasia of the corpus... ORPHA:420179
Hall-Riggs Syndrome
Metaphyseal dysplasia, Epicanthus, Microcephaly, Kyphosis, Osteoporosis, Irregular vertebral endp... OMIM:234250
Wild Type Abeta2M Amyloidosis
Arthropathy, Gastrointestinal hemorrhage, Abnormal intervertebral disk morphology, Intestinal pse... ORPHA:85446
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Brachydactyly, Microcephaly, Hyperlordosis, Abnormal metacarpal morphology, Abnormal thum... ORPHA:2511
Congenital Myopathy 16
Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Flexion contracture, Tongue tremor, High ... OMIM:618524
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... OMIM:619451
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Lumbar hyperlordosis, Babinski sign, Upper limb spasticity, Dystonia, Spas... OMIM:619966
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Bone cyst, Babinski sign, Cerebral atrophy, Leukoen... OMIM:221770
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Microcephaly, Spinal rigidity, Kyphosis, Hyperlordosis, Tip-toe gait, Gait... OMIM:617404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr... OMIM:606612
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Shor... ORPHA:457395
Fetal Akinesia Syndrome, X-Linked
Blepharophimosis, Narrow palpebral fissure, Telecanthus, Agenesis of corpus callosum OMIM:300073
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hand tremor, Limb ataxia, Congenital contra... OMIM:607596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hyperlordosis, Microcephaly, Inability to walk, Flexion contracture, Hip dislocation, Macroglossi... OMIM:613156
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Waddling gait, Unsteady gait, Lumbar hyperlordosis, Ankle flexion contracture ORPHA:280333
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndac... ORPHA:166024
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Frequent falls OMIM:300718
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Sparse eyebrow, Agenesis of corpus callosum, Blepharophimosis, Downslanted palpeb... OMIM:618286
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... ORPHA:2619
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... OMIM:609325
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Hyperlordosis, Achilles tendon contracture, Tip-toe gait, High palate, Scoliosis, ... OMIM:620389
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... OMIM:619725
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ... OMIM:256050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis, Joint contracture of the hand OMIM:611067
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, High, narrow palate, Flexion contracture, Knee flexion contracture, ... ORPHA:536516
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De... OMIM:616007
Pontocerebellar Hypoplasia, Type 12
Rocker bottom foot, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Overlap... OMIM:618266
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Short stature, Simplified gyral pattern, Decreased body weight, Primary microcephaly... OMIM:616681
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... OMIM:615938
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... OMIM:255600
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Congenital fibr... OMIM:610031
Leukoencephalopathy, Progressive, With Ovarian Failure
Apraxia, Ataxia, Babinski sign, Leukoencephalopathy, Hand tremor, Spasticity, Lateral ventricle d... OMIM:615889
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Thoracic kyphosis, High palate, Abnormal bone ossification, Abnormal femoral neck/hea... ORPHA:163649
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Metaphyseal widening, Craniofacial osteosclerosis, Agenesis of corpus cal... OMIM:618476
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture, H... OMIM:610687
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Hyperlordosis, Spinal rigidity, Flexion contracture, Elbow flexion con... ORPHA:267
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Epilepsy, Progressive Myoclonic, 9
Short thumb, Simplified gyral pattern, Action myoclonus, Gait ataxia, Myoclonus, Scoliosis, Micro... OMIM:616540
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Metaphyseal wideni... OMIM:255800
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Intellectual Developmental Disorder, Autosomal Dominant 48
Joint laxity, Dilated fourth ventricle, Highly arched eyebrow, Microcephaly, Synophrys, Lateral v... OMIM:617751
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... OMIM:253000
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... ORPHA:157965
Microcephaly 17, Primary, Autosomal Recessive
Short stature, Macrotia, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus c... OMIM:617090
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Joint hype... ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Irapa Type
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... OMIM:271650
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Microcephaly, Hype... OMIM:616817
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Rocker bottom fo... ORPHA:3078
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Broad hallux, Joint hypermobility, Postaxial polydactyly, Microcephaly, ... OMIM:616362
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Failure to thrive, Microcephaly OMIM:618276
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, 2-3 toe syndactyly, Upslanted palpebral fissure, Lob... OMIM:613443
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Waddling gait, Thoracic scoliosis, Hyperlordosis, Achilles tendon contracture, Limited shoulder m... ORPHA:62
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid synostosis, Long eyelashes, Scoliosis, H... OMIM:618577
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... ORPHA:63446
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Ataxia, Hyperlordosi... OMIM:253010
Alexander Disease Type I
Ataxia, Cachexia, Palatal tremor, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic MRI s... ORPHA:363717
Pontocerebellar Hypoplasia, Type 13
Epicanthus, Microcephaly, Inability to walk, Clubbing, Gait ataxia, Lateral ventricle dilatation,... OMIM:618606
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Spinal rigidity, Hyperlordosis, Rigidity, Hypertonia, High palate, Scoliosis, Dysp... OMIM:161800
Aicardi Syndrome
Dandy-Walker malformation, Block vertebrae, Proximal placement of thumb, Microcephaly, Hiatus her... OMIM:304050
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Den Hoed-De Boer-Voisin Syndrome
Tremor, Gastroesophageal reflux, Ataxia, Overweight, 2-3 toe syndactyly, Obesity, Upper limb spas... OMIM:619229
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Loss of ... OMIM:620315
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Waddli... ORPHA:94068
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Holoprosencephaly 5
Syntelencephaly, Microcephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holopros... OMIM:609637
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, High palate, Sc... OMIM:619995
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly ORPHA:171703
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Abnormality of the knee, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of th... ORPHA:319195
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Join... ORPHA:157973
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal s... OMIM:608728
Brachydactyly, Lumbar hyperlordosis, Hip joint hypermobility, Bowing of the legs, Kyphosis, Hydro... ORPHA:15
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... OMIM:184252
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abno... ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Waddling gait, Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limited elbow extension ORPHA:156728
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Failure to thrive, Caudate atrophy, Exaggerated startle response, Clonu... OMIM:615574
Masa Syndrome
Short stature, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Ataxia, Cerebral palsy, Hemiplegia/hemiparesis, Hydrocephalus, Limitation... ORPHA:99966
Corpus Callosum, Agenesis Of
Growth delay, Agenesis of corpus callosum, Microcephaly OMIM:217990
Congenital Hydrocephalus
Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Sensorineural hearing impair... ORPHA:2185
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Joint dislocation, Ventriculomegaly, Monkey wrench femoral neck, Absent septum pell... OMIM:618870
Wieacker-Wolff Syndrome
Dystonia, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Hip dis... OMIM:314580
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Epicanthus, Cerebral calcification, Hyperlordosis, High, narrow p... ORPHA:2780
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Epicanthus, Kyphoscoliosis, Reduced cerebral white matter volume, Sparse eyebrow, Parietal cortic... OMIM:620075
Dysostosis, Stanescu Type
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Bowing of the... ORPHA:1798
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Patellar hypoplasia, Hand tremor, Dysmetria, Thoracic ky... ORPHA:3041
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Epicanthus, Craniosynostosis, Short neck, Hydrocephalus, Hypoplasia of the corpus ... ORPHA:1516
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Hemimegalencephaly, Hypoplasia of the corpus callosum,... OMIM:615937
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor... ORPHA:93351
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal ph... ORPHA:2787
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Upslanted p... OMIM:615761
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Epicanthus, Microcephaly, Kyphosis, Small hand, Hip dislocation, Short foot, Gastroesophageal ref... OMIM:300434
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Hypoplastic iliac wing, Prominent ... OMIM:277590
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Encephalomalacia, Gastroesophageal reflux, Decereb... ORPHA:354
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Waddling gait, Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip ost... OMIM:165800
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Short thumb, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th ... OMIM:618453
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Overlapping toe, Kyphoscoliosis, Microcephaly, Perisylvian polymicrogyr... OMIM:600118
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Cerebral palsy, Flexion contracture, Poor gross motor coordination... ORPHA:2148
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Hyperlordosis, Babinski sign, Calcaneovalgus deformity, Arthrogryposis multiple... OMIM:162370
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Waddling gait, Camptodactyly of finger, Kyphoscoliosi... OMIM:612350
Nasu-Hakola Disease
Cerebral calcification, Hydrocephalus, Bone cyst, Limitation of joint mobility, Chorea, Functiona... ORPHA:2770
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Microcephaly, Short neck, Kyphosis, Inability to walk, Cerebral atrophy, Hip ... OMIM:611890
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spi... ORPHA:582
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ataxia, Wide anterior fontanel, Pyloric stenosis, Submucous cleft har... ORPHA:457279
Fried Syndrome
Cerebral calcification, Hydrocephalus, Spastic diplegia, High palate, Gait disturbance, Scoliosis ORPHA:85335
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Short stature, Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy... OMIM:618492
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum, Ptosis OMIM:618197
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... OMIM:146000
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... OMIM:600348
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hip dislocation, Hip dysplasia, Hypertonia, Gastroesophageal reflux, Arthrogryposi... ORPHA:250994
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... ORPHA:93360
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis, Bilateral ptosis, High palate, Gait disturbance, Ptosis OMIM:614198
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Synophrys, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Ataxia, Thoracol... OMIM:618443
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Waddling gait, Short metacarpal, Iliac crest ser... OMIM:607326
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Epicanthus, Small for gestational age, Congenital bilateral hip dislocation ORPHA:85288
Bainbridge-Ropers Syndrome
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Hypertonia, High ... OMIM:615485
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Epicanthus, Telecanthus, Short stature, Microcephaly, Upslanted palpebral fissure, Recurrent otit... OMIM:615286
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx of finger, Bifid uvu... OMIM:615777
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bo... ORPHA:52430
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Hydrocephalus, High, narrow palate, Joint hyperflexibility, Shoulder di... ORPHA:2181
Gm1-Gangliosidosis, Type Ii
Ventriculomegaly, Ataxia, Joint stiffness, Coxa valga, Protruding tongue, Spastic tetraplegia, Ce... OMIM:230600
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Gastroesophageal reflux, Medial flaring of the eyebrow, Ataxia, Scoliosis, Acetabula... OMIM:619833
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Telecanthus, Craniosynostosis, Preaxial ... ORPHA:380
Abnormal eyelid morphology, Hydrocephalus, Difficulty walking, Episodic ataxia, Increased CSF pro... ORPHA:251912
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Reduced cerebral white matter volume, Kyphoscoliosis, Microcephaly, Inability to walk, Spastic pa... OMIM:617977
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... OMIM:183900
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... ORPHA:1310
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Smith-Mccort Dysplasia 2
Enlarged interphalangeal joints, Short metacarpal, Broad femoral neck, Hyperlordosis, Short neck,... OMIM:615222
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Failure to thrive, Rocker bottom foot, Li... ORPHA:79474
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Intellectual Developmental Disorder, X-Linked 111
Cerebral palsy, Reduced cerebral white matter volume, Kyphoscoliosis, Corpus callosum atrophy, Un... OMIM:301107
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Spastic tetraparesis, Microcephaly, Basal ganglia calcification, Osteopor... OMIM:619487
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Posteriorly rotated ears, Low-set ears, Conjunctival hyperemia, Agenesis of corpus ca... OMIM:619548
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Delayed cranial suture closure, Craniosynostosis, 1-3 toe syn... OMIM:175700
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Kyphosis, Hip dysplasia, Tongue fasciculations, Failure to thrive, Progressive microcephaly OMIM:620007
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Lateral ventricle dilatat... OMIM:256850
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Microcephaly, Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal py... ORPHA:500180
Three M Syndrome 3
Small for gestational age, Microcephaly, Hyperlordosis, Increased vertebral height, Short neck, S... OMIM:614205
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Microcephaly, Inability to walk, Cleft palate, Shortening of all distal ph... OMIM:615716
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cer... OMIM:617668
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Wormian bones, Short 4th ... OMIM:619638
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Proximal placement of thumb, Short neck, Large fontanelles, Platyspondy... ORPHA:93267
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Microcephaly, Hydrocephalus, La... OMIM:612940
Myasthenic Syndrome, Congenital, 14
Waddling gait, Hyperlordosis, Distal joint laxity, Knee flexion contracture, High palate, Scolios... OMIM:616228
Nemaline Myopathy 2
Waddling gait, Hyperlordosis, Spinal rigidity, Inability to walk, Flexion contracture, Cleft pala... OMIM:256030
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Ptosis, Microcephaly, Tapered finger, Kyphosis... OMIM:301900
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Lumbar hyperlordosis, Limb joint contracture, High palate, Scoliosis,... OMIM:255310
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Epicanthus, Failure to thrive in infancy, Cachexia, Microcephaly, Sh... OMIM:616801
Persistent open anterior fontanelle, Decreased response to growth hormone stimulation test, Gener... ORPHA:763
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Microcephaly, Flexion con... OMIM:215100
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Cerebral atrophy, Lateral v... OMIM:617296
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Flexion contracture, Truncal ataxia, Cerebral atrophy, Dys... ORPHA:135
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Proteus Syndrome
Kyphoscoliosis, Limbal dermoid, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperos... OMIM:176920
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... OMIM:128100
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Microcephaly, Abnormal sacrum morphology, Cleft palate, Upslanted palp... ORPHA:1797
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneous finger syndactyly, Hi... OMIM:114300
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Hydrocephalus, Platyspondyly, Hi... OMIM:616294
Alexander Disease
Osteopenia, Cerebral calcification, Clonus, Short neck, Aqueductal stenosis, Tremor, Chorea, Abno... ORPHA:58
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Abnormal bone os... ORPHA:93315
Abnormal basal ganglia MRI signal intensity, Epicanthus, Microcephaly, Lateral ventricle dilatati... ORPHA:79326
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Genu valgum... OMIM:252605
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Microcephaly, Spinal rigidity, Joint stiffness, Flexion contracture, Diffic... OMIM:609308
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... ORPHA:488627
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Epicanthus, Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, ... ORPHA:557003
Odontochondrodysplasia 1
Biconvex vertebral bodies, Short metacarpal, Genu recurvatum, Brachydactyly, Metaphyseal widening... OMIM:184260
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Conductive hearing impairment, Agenesi... ORPHA:85179
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Three M Syndrome 1
Joint dislocation, Thick eyebrow, Small for gestational age, Hyperlordosis, Short neck, Increased... OMIM:273750
Braddock-Carey Syndrome 1
Telecanthus, Hyperlordosis, Microcephaly, Small hand, Spastic diplegia, Cleft palate, Anteriorly ... OMIM:619980
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Low-set ears, Intrauterine growth retardation, Agenesis of corpus callosum, Ventric... OMIM:616570
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Mosaic Trisomy 1
Thoracic scoliosis, Finger clinodactyly, Congenital bilateral ptosis, Absent distal interphalange... ORPHA:1692
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Synophrys, Absent di... OMIM:618658
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Inability to walk, Parapa... ORPHA:2822
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, S... ORPHA:208447
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Microcephaly, Dysplastic corpus callosum, Cupped ear, Large earlobe, Colpocephaly, Agenes... OMIM:619955
Bethlem Myopathy 2
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Epicanthus, Arachnodactyly, Ataxia, Hyperlordosis, Almond-shaped palpebral fissure,... OMIM:300986
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Telecanthus, Broad hallux, Deviation of the hallux, Hamartoma of tongue... ORPHA:434179
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... OMIM:618395
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Thick eyebrow, Small for gestational age, Cerebral palsy, Highly arched eyebrow, Micr... OMIM:615834
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis ORPHA:93304
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Metaphyseal widening, Knee dislocation, High palate, Gastroesophageal reflux, Clinoda... OMIM:620083
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu... OMIM:602557
Tenorio Syndrome
Osteopenia, Joint laxity, Telecanthus, Thick eyebrow, Cerebral palsy, Delayed cranial suture clos... OMIM:616260
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal... ORPHA:93160
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... ORPHA:93346
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Broad toe, Epicanthus, Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy, Macro... OMIM:616900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Microcephaly, Hyperlordosis, Limitation of joint mobility, Tracheoesop... ORPHA:3068
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Epicanthus, Hyperlordosis, Abnormal form of the vertebral bodies... ORPHA:2831
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... ORPHA:3115
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Hearing impairment ORPHA:401830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Elbow flexion contra... OMIM:619470
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Upslanted palpebral fissure, Hypoplasia of the frontal lobes, Abnormal ... ORPHA:2512
Diastrophic Dysplasia
Joint dislocation, Cerebral calcification, Proximal placement of thumb, Abnormal form of the vert... ORPHA:628
Anauxetic Dysplasia 1
Joint laxity, Hip contracture, Brachydactyly, Lumbar hyperlordosis, Short neck, Hypoplastic ilia,... OMIM:607095
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Elbow flexion contracture, Thoracic ... ORPHA:206546
Mulchandani-Bhoj-Conlin Syndrome
Epicanthus, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly, Failure to thrive OMIM:617352
Arthrogryposis, Distal, Type 5D
Ptosis, Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Limited k... OMIM:615065
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... OMIM:614727
Noonan Syndrome 14
Epicanthus, Lacrimal duct stenosis, Short neck, Sparse eyebrow, Kyphosis, High, narrow palate, La... OMIM:619745
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Trigonocephaly 1
Epicanthus, Craniosynostosis, Microcephaly, High, narrow palate, Synophrys, Upslanted palpebral f... OMIM:190440
Hao-Fountain Syndrome
Hallux valgus, Speech apraxia, Large fontanelles, Apraxia, Clinodactyly of the 5th finger, Delaye... OMIM:616863
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Limitation of joint mobility, Hypertonia, Gait disturbance, Cerebral corti... ORPHA:1192
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Decreased response to growth hormone ... OMIM:216550
Chst3-Related Skeletal Dysplasia
Waddling gait, Short metacarpal, Enlarged joints, Kyphoscoliosis, Highly arched eyebrow, Sparse e... ORPHA:263463
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Microcephaly, Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal hip bone mo... ORPHA:2522
Myopathy, Centronuclear, 2
Waddling gait, Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Ptosis OMIM:255200
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... ORPHA:101071
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Ptosis, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar sco... OMIM:616723
Nail-Patella Syndrome
Back pain, Impaired temperature sensation, Abnormal tibia morphology, Flexion contracture, Abnorm... ORPHA:2614
Huntington Disease-Like 2
Caudate atrophy, Weight loss, Abnormal cerebral morphology, Cerebral cortical atrophy, Abnormal c... ORPHA:98934
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Short neck, Microcephaly, Kyphosis, Abnormality of the hu... ORPHA:3098
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... ORPHA:296
Typical Nemaline Myopathy
Waddling gait, Ptosis, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture,... ORPHA:171436
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Posteriorly rotated ears, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Pro... OMIM:620001
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormality of the elbow, Abnormal... ORPHA:1486
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Lopes-Maciel-Rodan Syndrome
Caudate atrophy, Dystonia, Tremor, Kyphosis, Unsteady gait, Small hand, Abnormal pyramidal sign, ... OMIM:617435
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Persistent open anterior fontanelle, Congenital hip dislocation, Thick ... ORPHA:357058
Martsolf Syndrome 1
Enlarged sylvian cistern, Thoracic scoliosis, Clonus, Osteopathia striata, High palate, Finger jo... OMIM:212720
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Dystonia, Ataxia, Microcepha... ORPHA:464282
Urban-Rogers-Meyer Syndrome
Epicanthus, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, O... ORPHA:3409
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Broad hallux, Microcephaly, Lateral ventricle dilatation, High palate, Hypoplasia of ... OMIM:614105
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Radial head subluxation, Short toe, C... OMIM:614078
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Postaxial polydactyly, Megalencephaly, Kyphosis, Hydrocephalus, Thick corpus ... OMIM:603387
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Hooded eyelid, 2-3 toe syndactyly, Thoracic kyphosis, Short finger, Clinoda... OMIM:619467
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria, Short palm OMIM:300982
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Narrow palpebral fissure, Lateral ventricle dilata... OMIM:614219
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign, Impaired vibration ... OMIM:614409
Myasthenic Syndrome, Congenital, 5
Ptosis, Dysphagia, Scoliosis, Hyperlordosis OMIM:603034
Satoyoshi Syndrome
Abnormality of the knee, Hyperlordosis, Microcephaly, Tapered finger, Abnormal joint morphology, ... ORPHA:3130
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Microcephaly, ... OMIM:602471
3Mc Syndrome
Ptosis, Telecanthus, Craniosynostosis, Hyperlordosis, Highly arched eyebrow, Limited pronation/su... ORPHA:293843
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Premature osteoarthritis, Cleft palate, Platyspondyly OMIM:184840
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Partial a... OMIM:210710
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Epicanthus, Osteomalacia, Joint stiffness, Coxa valga, Avascular n... ORPHA:1901
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Unsteady gait, Lumbar hyperlordosis, Difficulty walking, Ankle flexion contracture OMIM:613818
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Cerebral palsy, Small for gestational age, Highly arched eyebrow, Microcephaly, Kypho... ORPHA:352490
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Telecanthus, Short femur, Fractured radius, Small for gestational age, Short neck, Mu... OMIM:616897
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi... OMIM:614833
4Q21 Microdeletion Syndrome
Toe syndactyly, Short neck, Tremor, Kyphosis, Synophrys, Small hand, Large fontanelles, Short foo... ORPHA:238750
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... ORPHA:324964
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Microcephaly, Hyperlordosis, Ulnar deviation of fin... ORPHA:1387
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Ptosis, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Narrow palate... ORPHA:1323
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Obesity, High palate, Hypop... OMIM:619185
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol... OMIM:619131
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Sparse eyebrow, Long fingers, Epiblepharon... OMIM:617557
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Abnormal pinna morphology, Short stature, Microcep... ORPHA:251056
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Hypertonia, High palate, Wrist flexion contracture, Increased bone mineral... ORPHA:800
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Hypoplasia of the odontoi... ORPHA:239
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Communicating hydrocephalus, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosi... OMIM:617011
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... OMIM:615771
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... OMIM:618961
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Epicanthus, Broad hallux, Small for gestational age, Highly arched eyebr... OMIM:614541
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Joint hyperflexib... ORPHA:2655
Cole-Carpenter Syndrome 1
Osteopenia, Communicating hydrocephalus, Recurrent fractures, Hydrocephalus, Vertebral compressio... OMIM:112240
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Short neck, Mic... ORPHA:263487
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Epicanthus, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Hypoplastic ischia, Hyd... OMIM:617866
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Premature osteoa... OMIM:215150
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Short neck, High, narrow palate, Hydrocepha... OMIM:620156
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral ptosis, Thoracic kyphosis, High palat... OMIM:619542
Grant Syndrome
Joint dislocation, Bowing of the long bones, Large fontanelles, Decreased skull ossification, Joi... ORPHA:2097
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Iliac crest serration, Abnor... ORPHA:168549
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr... OMIM:190350
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Megalencephaly, Wide anterior fontanel, Flared metaphys... OMIM:269300
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Epicanthus, Frontal polymicrogyria, Ataxia, Highly arched eyebr... OMIM:608629
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Joint laxity, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Hyp... ORPHA:488635
Cantu Syndrome
Epicanthus, Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Curly eye... OMIM:239850
Steel Syndrome
Lumbar hyperlordosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Scoliosis, Carp... OMIM:615155
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Joint laxity, Waddling gait, Ankle flexion contracture, Hyperlordosis, Scoliosis OMIM:617760
Microcephalic Primordial Dwarfism, Montreal Type
Microcephaly, Kyphosis, Congenital pyloric atresia, Reduced bone mineral density, Vertebral segme... ORPHA:2617
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Epicanthus, Short stature, Hearing impairment, Microcephaly, Sparse eyebrow, Downslanted palpebra... OMIM:619989
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Spastic tetraparesis, Hydrocephalus, ... ORPHA:171839
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Kyphosis, Synophrys... ORPHA:505652
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, H... OMIM:613849
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Sandal gap, Tremor, Kyphosis, Cortical dysplasia, Small hand, Simplified gyral patt... OMIM:300354
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Hyperlordosis, Short neck, Kyphos... ORPHA:2789
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Christianson Syndrome
Thick eyebrow, Dystonia, Cachexia, Microcephaly, Truncal ataxia, Aplasia/Hypoplasia of the corpus... ORPHA:85278
Baralle-Macken Syndrome
Tapered finger, Microcephaly, Kyphosis, High, narrow palate, Inability to walk, Obesity, Upslante... OMIM:619255
Congenital Myasthenic Syndromes With Glycosylation Defect
Joint laxity, Waddling gait, Lumbar hyperlordosis, Flexion contracture, Knee flexion contracture,... ORPHA:353327
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility OMIM:618323
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Ptosis, Epicanthus, Craniosyno... ORPHA:794
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Gastrointestinal hemorrhage, Ptosis, Osteomyelitis, Cerebral palsy, Peptic ulcer, Elevated circul... ORPHA:2796
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Short neck, Dysplastic corpus callosum, Synophrys, V... OMIM:616854
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:241530
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy... ORPHA:2848
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, S... ORPHA:175
Pelvis-Shoulder Dysplasia
Waddling gait, Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal pha... ORPHA:2839
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Ep... ORPHA:1914
Juvenile Huntington Disease
Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, Weight loss, Gait ata... ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Epicanthus, Tremor, Dysplastic corpus callosum, Hypoesthesia, Obesi... OMIM:619737
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Opisthotonus, Hypertonia, Narrow greater ... ORPHA:508533
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bulging epiphyses, Epicanthus, Recurrent fractures, Bowing of the legs... OMIM:277440
3M Syndrome
Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Rocker bottom foot, Hyperlordo... ORPHA:2616
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... OMIM:259700
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation, Ptosis OMIM:619972
Weiss-Kruszka Syndrome
Ptosis, Epicanthus, Hearing impairment, Highly arched eyebrow, Cupped ear, Protruding ear, Colpoc... OMIM:618619
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Spastic tetraplegia, Increased CSF lactate, Choreoathetosis, Scoliosis, Dystonia... OMIM:618238
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Pla... OMIM:300863
Baraitser-Winter Syndrome 2
Ptosis, Telecanthus, Abnormal pinna morphology, Short stature, Highly arched eyebrow, Lissencepha... OMIM:614583
Infantile Sialic Acid Storage Disease
Osteopenia, Epicanthus, Hydrocephalus, Cerebral atrophy, High palate, Failure to thrive, Metaphys... OMIM:269920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Falls, Gait disturbance, Slender build, Ptosis OMIM:615156
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion ... ORPHA:75840
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of... ORPHA:2078
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contracture, Periventricular wh... OMIM:619719
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... ORPHA:2484
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Osteoporosis ORPHA:71267
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atr... ORPHA:2703
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Large for gestational age, Diffuse white matter abnormalities, Gait ... ORPHA:457359
Myopathy, Distal, 1
Lumbar hyperlordosis, Tip-toe gait, Gait disturbance, High palate, Scoliosis OMIM:160500
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Colpocephaly, Pachygyria OMIM:614870
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Probst bundles, Sandal gap, Hooded eyelid, Sparse eyelashes, High,... OMIM:612863
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Reduced cerebral white matter volume, Short neck, Synophrys, Irregular vertebral endplates, Poste... OMIM:610442
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Epicanthus, Telecanthus, Overlapping toe, Delayed cranial suture closure, Thick eyebrow, Inabilit... OMIM:619383
Digeorge Syndrome
Pilonidal sinus, Microcephaly, High, narrow palate, Obesity, Cleft palate, Hemiparesis, High pala... OMIM:188400
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia ORPHA:2807
Hydrocephalus, Elbow ankylosis, Craniosynostosis OMIM:148800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility, Gait disturbance, Cubitus valgus, Ptosis ORPHA:1875
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... OMIM:136300
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Growth delay, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation, Sp... ORPHA:77299
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Short neck, Wide distal femoral metaphysis, Del... OMIM:613320
Maternal Uniparental Disomy Of Chromosome 1
Ataxia, Delayed closure of the anterior fontanelle, Abnormal limb bone morphology, Epiphyseal sti... ORPHA:251009
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Rocker bottom foot, Kypho... OMIM:214150
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Microcephaly, Babinski sign, Sp... OMIM:619847
Atypical Rett Syndrome
Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Small hand, ... ORPHA:3095
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Lacrimal duct stenosis, Palpebral edema, Ataxia, Hyperlordosis, Dermatochalasis, Clin... ORPHA:221139
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...