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Gene: Hoxc10 MGI:96192

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox C10
Synonyms:
Hox-3.6

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.

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 Hoxc10 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hoxc10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ... OMIM:601472
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Upington Disease
Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... ORPHA:3408
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti... ORPHA:1801
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Short... OMIM:618845
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Pes planus, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb musc... OMIM:600794
Femoral-Facial Syndrome
Short femur, Renal hypoplasia/aplasia, Micrognathia, Abnormal sacrum morphology, Long penis, Abno... ORPHA:1988
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... OMIM:618961
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... ORPHA:1802
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Claw hand deformity, Lower limb muscle weakness, Impaired pain sensation, Impaired distal vibrati... OMIM:618511
Three M Syndrome 1
Joint dislocation, Pes planus, Scapular winging, Hypospadias, Small for gestational age, Hyperlor... OMIM:273750
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Ataxia, Functional abnormality of the bladder, Limb ataxia, Gait ataxia,... ORPHA:488594
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Pes planus, Impaired distal vibration sensation, Distal sensory imp... OMIM:619519
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Pear-shap... ORPHA:93356
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Absent Achilles reflex, Distal sensory impairment, Hammertoe, Distal amyotrophy, Pes cavus OMIM:616625
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Small for gestational age, Abnormal thorax morphology, Upper limb pho... ORPHA:294975
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short neck, Micrognathia, Beaded ribs, Multiple prenatal fractures, Flexion contractu... OMIM:616897
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Thoracic scoliosis, Knee flexion contracture ORPHA:401785
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Short neck, Abnormal t... ORPHA:1842
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Anterior rib... OMIM:269250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met... OMIM:613320
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia OMIM:613618
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthr... OMIM:618155
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Upper limb muscle weakness, Hammertoe, Distal amyotrophy, Pes cavus, Impaired vibration sensation... OMIM:182960
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Talipes, Unilateral renal agenesis, Chronic kidney disease, Hemiver... OMIM:617661
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f... OMIM:614135
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Micrognathia, Kyphosis... OMIM:618393
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... ORPHA:94068
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Irregular vertebral endplates, Knee dislocation, Microretrognathia, Hyperlordosis, ... OMIM:618363
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Impaired distal vibration sensation, Claw toe deformity OMIM:616282
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Hip dysplasia, Hip dislocation, Hammertoe, Scoliosis ORPHA:370943
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bo... OMIM:620076
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... OMIM:602484
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts... ORPHA:66637
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Pes planus, Spina... OMIM:600175
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Micrognathia, Missing ribs... OMIM:617866
Braddock Syndrome
Congenital muscular torticollis, Unilateral renal agenesis, Short neck, Micrognathia, Preaxial ha... ORPHA:52047
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal hip bone morphology ORPHA:1891
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Multiple joint disl... OMIM:618395
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... ORPHA:56304
Shox-Related Short Stature
Short neck, Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Sk... ORPHA:314795
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Roussy-Lévy Syndrome
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Kyphoscoliosi... ORPHA:3115
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Quadriceps ... ORPHA:482601
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Micromelia, Bowing of the legs, Craniosynostosis, Vertebral cleftin... OMIM:241500
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab... ORPHA:2790
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Broad hallux, Facial hypotonia, Postaxial polydactyly, Unilateral renal ... OMIM:616362
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Spinal canal steno... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... OMIM:608728
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... OMIM:161200
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Pes cavus, Kyphosis, Ankle clonus, Scoliosis, Joint contracture, Lower l... OMIM:611225
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... OMIM:200600
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Somatic sensory dysfunction, Micrognathia, Achilles tendon contracture, ... OMIM:620323
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Pes planus, Spinal muscular atrophy, Distal sensory impairment, Calf mus... OMIM:615048
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of t... OMIM:271665
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Chronic kidney disease, Obesity, Cone-shaped e... OMIM:615630
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Abnormality of the kidney, Unilateral renal agenesis, Short neck... OMIM:118100
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Narrow chest, Short ribs, Absent or minimally ossified vertebral bo... OMIM:600972
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Distal... OMIM:615025
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Spinal muscular atrophy, Abnormal foot morphology, Decreased patella... OMIM:158600
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... ORPHA:93333
Seckel Syndrome 4
Steep acetabular roof, Severe failure to thrive, 11 pairs of ribs, Decreased body weight OMIM:613676
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... ORPHA:1509
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... ORPHA:1078
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Equinovarus def... OMIM:224400
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... OMIM:108720
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology ORPHA:163665
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Thoracic scoliosis, Absent patellar reflexes OMIM:615681
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a... OMIM:611067
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Pes cavus, Flexion contracture, Impair... OMIM:619216
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... OMIM:142669
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Facial palsy, Impaired pain sensation, Flexion contracture, Impaired distal ... OMIM:607684
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Distal sensory impairment, Hammertoe, Distal amyotrophy, Scoliosis, ... OMIM:615376
Greenberg Dysplasia
Micromelia, Micrognathia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mine... OMIM:215140
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Somatic sensory dysfunction, Equinovarus deformity, Hand muscle wea... ORPHA:101077
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Pes planus, Spinal muscular atrophy, Hyperlordosis, Pectus exc... OMIM:615290
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Hypoplastic ischi... ORPHA:1865
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Thenar muscle atrophy, Thenar muscle weakness, Upper limb muscle we... ORPHA:139536
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Obesity, Palmoplantar keratoderma, Abnormality o... ORPHA:2206
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Pectus excavatum, Kyphosis, Obesity, Pectus carinatum, Large hands, Scoliosis ORPHA:276630
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Pes planus, Distal sensory impairment, Proximal amyotrophy, Hammertoe, Distal amyotrophy, Pes cav... OMIM:616040
Autosomal Dominant Spastic Paraplegia Type 4
Ataxia, Urinary urgency, Ankle clonus, Distal amyotrophy, Leg muscle stiffness, Pes cavus, Urinar... ORPHA:100985
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Abnormality of the ankle, Obesity, Finger joint hypermobility, Genu valgum ORPHA:436141
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Joint stiffness, Hy... ORPHA:1860
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Abnorma... ORPHA:459033
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... ORPHA:2021
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes planus, Tapered finger, Obesity, Short foot, Pes cavus OMIM:309585
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly OMIM:300577
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Knee flexion contracture, Absent Achille... ORPHA:320370
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... OMIM:617396
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot... ORPHA:970
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... ORPHA:2114
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Distal sensory impairment, Urinary urgency, Ankle clonus, Distal amyotro... OMIM:610250
Legg-Calvé-Perthes Disease
Joint dislocation, Skeletal muscle atrophy, Cartilage destruction ORPHA:2380
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Impaired vibration sensation in the lower limbs, D... OMIM:612335
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Distal sensory impairment, Absent Achilles... OMIM:613287
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, ... OMIM:611890
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Distal sensory impairment, Gait ataxia, Pectus carinatum, Distal amyotrophy,... OMIM:617018
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney, Obesity OMIM:615988
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Obesity, Nephrocalcinosis, Bell-shaped thorax, Shor... OMIM:615633
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Obesity, ... OMIM:301900
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, P... ORPHA:101097
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco... ORPHA:2370
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... ORPHA:435387
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... OMIM:607078
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... OMIM:132400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Distal sensory impairment, Talipes equinovarus, Scoliosis, Pes c... OMIM:617087
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly, Obesity OMIM:615991
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Pes planus, Congenital hip dislocation, Talipes, Ankle flexion contractu... OMIM:117000
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Decreased body weight, Broad phalanx, Short phalanx of finger... OMIM:618724
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... ORPHA:1146
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ... OMIM:620310
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow,... ORPHA:1486
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx ... ORPHA:1471
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... ORPHA:1837
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion ... OMIM:224690
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... OMIM:620389
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo... ORPHA:3144
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Micrognathia, Metaphyse... OMIM:156400
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... ORPHA:1836
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Congenital Muscular Dystrophy, Ullrich Type
Short neck, Micrognathia, Flexion contracture, Hyperextensibility at wrists, Knee flexion contrac... ORPHA:75840
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Impaired pain sensation,... OMIM:607706
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Ectopic kidney,... ORPHA:3027
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Mi... ORPHA:3409
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Kyphosis, Split hand, Obesity, Distal sensory impairment, Arefle... OMIM:618124
Bardet-Biedl Syndrome 18
Renal insufficiency, Obesity, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Ataxia, Kyphosis, Hip dislocation, Obesity, Talipes equinovarus, Scoliosis OMIM:616756
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Ataxia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior ... OMIM:230650
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... OMIM:241800
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Obesity, Renal cyst OMIM:615987
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr... OMIM:616716
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... ORPHA:474
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... OMIM:617895
Trisomy 5P
Hypoplasia of penis, Renal hypoplasia/aplasia, Obesity, Scoliosis, Abnormal metacarpal morphology ORPHA:1742
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness, Limited interph... ORPHA:99948
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Talipes, Spinal rigidity, Scapuloperoneal amyotrophy, Achille... OMIM:613205
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Spinal muscular atrophy OMIM:271109
Prieto Syndrome
11 pairs of ribs, Coxa valga, Osteoporosis, Patellar subluxation, Talipes equinovarus, Radial dev... OMIM:309610
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Spinal cord compression, Osteoart... OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, ... OMIM:241530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Recu... OMIM:618188
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... OMIM:615503
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Proximal placement of thumb, Missing ri... ORPHA:1488
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... ORPHA:1354
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... OMIM:308050
Bardet-Biedl Syndrome 5
Syndactyly, Obesity, Polydactyly, Micropenis, Brachydactyly OMIM:615983
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Femoral bowing, Enuresis nocturna, Reduced bone mineral density, Pectus ... OMIM:614856
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo... OMIM:300696
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Lower limb muscle weakness, Ankle f... ORPHA:1143
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Pes cavus, Scoliosis, Distal sensory impairment OMIM:608673
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... OMIM:255600
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ... ORPHA:79106
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Pes cavus, Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Hammer... OMIM:608340
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Renal hypoplasia/aplasia, M... ORPHA:1834
Achondroplasia
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip ... ORPHA:2840
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Abnormal rib morphology,... OMIM:601076
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morpho... ORPHA:83468
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Renal hypoplasia/aplasia, Abnormal sac... ORPHA:2345
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Microgn... ORPHA:628
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Mesomelia, Vertebral segmentation defect, Abno... ORPHA:2631
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Abnor... ORPHA:93160
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... ORPHA:157965
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Small for gestational age, Hypop... OMIM:607143
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... ORPHA:397715
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Claw hand deformity, Spinal muscular atrophy, Absent Achilles reflex, Distal amyotrophy, Hammerto... OMIM:605726
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Ankle flexion contracture, Spinal rigidity, Hyperlord... ORPHA:267
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... OMIM:608022
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98855
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Polydac... OMIM:615993
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossi... OMIM:618392
Spinocerebellar Ataxia Type 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Progressive cerebellar ataxia, Distal amyotr... ORPHA:497764
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Somatic sensory dysfunction, Pes cavus ORPHA:357043
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Pes planus, Ataxia, Urinary incontinence, Impaired distal proprioception, Split hand, Impaired di... OMIM:616688
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Unilateral renal agenesis... OMIM:619951
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... OMIM:184250
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... ORPHA:50945
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Pes planus, Ataxia, Coxa valga, Centrally nucleated sk... OMIM:248800
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Ataxia, Obesity OMIM:620270
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Short neck, Micrognathia, Short thumb, Obesi... OMIM:618821
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... OMIM:304120
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Obesity, Tapered finger ORPHA:85274
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal sensory impairment, Upper limb muscle weakness, Hip dysplasia, Distal amyotrophy, Scoliosi... OMIM:302802
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G... ORPHA:3210
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Genu valgum, Postaxi... OMIM:225500
Epilepsy, Progressive Myoclonic, 9
Short thumb, Generalized amyotrophy, Scoliosis, Gait ataxia OMIM:616540
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, Narrow ches... OMIM:200980
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Neurogenic Thoracic Outlet Syndrome
Dysesthesia, Abnormal rib morphology, Paresthesia ORPHA:100073
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Distal sensory impairment, Hammertoe, Distal amyotrophy, Scoliosis, Limb mus... OMIM:609260
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Skeletal muscle atrophy, Pes planus, Urinary incontinence, Distal sensory impairment,... OMIM:615284
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... OMIM:255800
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Aase-Smith Syndrome
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... ORPHA:916
Marinesco-Sjögren Syndrome
Short palm, Skeletal muscle atrophy, Ataxia, Coxa valga, Avascular necrosis of the capital femora... ORPHA:559
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Horizontal ribs, Squared iliac bones, Preax... OMIM:616300
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor... ORPHA:321
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, Narrow ... OMIM:266920
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Scoliosis, Prominent... OMIM:618494
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp... ORPHA:2484
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Plantar pits, Hemivertebr... OMIM:109400
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Foot oligodactyly, Scoliosis OMIM:601357
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal mu... OMIM:617760
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Small for gestational age, Unilateral renal agenesis, Neonatal e... OMIM:101800
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Recurrent urinary tract infections, Torticollis, Unila... OMIM:609029
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Dysmetria, Gait ataxia, Distal sensory imp... OMIM:616907
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:261
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98853
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... OMIM:609325
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia... OMIM:620073
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture, Ataxia OMIM:611105
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc... OMIM:617114
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Large for gestational age, Micrognathia, Flexion contracture, Hemivertebrae, Tibial b... ORPHA:96334
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Shashi-Pena Syndrome
Short metacarpal, Unilateral renal agenesis, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 ve... OMIM:617190
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Short finger, Obesity OMIM:300209
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype... OMIM:255710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro... OMIM:607641
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Hereditary Motor And Sensory Neuropathy V
Distal sensory impairment, Hammertoe, Distal amyotrophy, Limb muscle weakness, Pes cavus, Foot do... OMIM:600361
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Talipes, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, ... ORPHA:157973
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Wormian bones, Recurrent fractu... OMIM:166210
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Spi... ORPHA:2522
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... OMIM:259440
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Vesicoureteral reflux, Micropenis, Abnormality... ORPHA:95699
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, M... OMIM:618142
Bruck Syndrome 2
Osteopenia, Wormian bones, Flexion contracture, Elbow flexion contracture, Femoral bowing, Knee f... OMIM:609220
Focal Dermal Hypoplasia
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Camptodactyly of finger, Congeni... ORPHA:2092
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Hammertoe, Distal amyotrophy, Impaired distal tactile sensat... OMIM:610100
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle, Abnormal moto... ORPHA:52430
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300554
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Clark-Baraitser syndrome
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short p... OMIM:300602
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Distal sensory impairment, Distal amyotrophy, Talipes equinovarus, Scoliosis OMIM:601382
Summitt Syndrome
Syndactyly, Obesity, Craniosynostosis OMIM:272350
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Unilatera... ORPHA:96170
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Calf muscle h... ORPHA:101081
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... ORPHA:206549
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Osteopenia, Joint laxity, Unilateral renal agenesis, Hip dislocation, Talipes equ... OMIM:616603
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Small hand, Obesity, Short foot, Scoliosis, Clinodactyly, Joint hypermobility ORPHA:254531
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera... ORPHA:166119
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Short neck, Hemivertebrae, Obesity, Abnormal form of the ... ORPHA:2234
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Pes planus, Joint laxity, Sandal gap, Hypospadias, Kyphosis, Small ... OMIM:300354
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Broad ribs,... OMIM:269150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:264700
Neuropathy, Congenital Hypomyelinating, 2
Skeletal muscle atrophy, Pes planus, Sensory ataxia, Facial diplegia, Distal amyotrophy, Scoliosis OMIM:618184
Gemignani Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Ataxia, Impaired pain sensation ORPHA:2074
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Kyphoscoliosis, Abnormal foot morphology, Split hand, Upper limb amy... ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hammertoe, Distal amyotrophy, Impaired distal tactile sensation, Ulnar claw, Pes cavus, Foot dors... OMIM:618400
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumb... ORPHA:3041
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Urinary incontinence, Hand muscle weakness, Impaire... ORPHA:101085
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Distal sensory impairment, Facial diplegia, Hammertoe, Distal amyotrophy, Di... OMIM:616287
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Hyperextensibility at elbow, Rec... OMIM:610967
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... OMIM:616852
Temple Syndrome
Small for gestational age, Micrognathia, Overweight, Flexion contracture, Small hand, Obesity, Sh... OMIM:616222
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormi... OMIM:619638
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Craniofacial hyperostosis, Facial palsy, Hyperlordo... ORPHA:3068
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Sprengel anom... ORPHA:2097
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... ORPHA:64755
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Thenar muscle atrophy, Impaired distal vib... OMIM:604360
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Foot osteomyelitis, Somatic sensory dysfunction, Pes planus, Absent... OMIM:600882
Microtriplication 11Q24.1
Joint dislocation, Short neck, Metatarsus adductus, Limitation of joint mobility, Small hand, Obe... ORPHA:289522
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal rib morphology, Abnormal form of the verteb... ORPHA:2759
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Decreased body weight ORPHA:401805
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Hammertoe, Distal amyotrophy, Pes cavus OMIM:180800
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Renal hypoplasia, ... OMIM:269860
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Distal sensory impairment, Hammertoe, Distal amyotrophy, Limb muscle weakness, Pes ... OMIM:118210
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis OMIM:235740
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Pes cavus OMIM:612539
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... OMIM:154400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Abnormal rib morpholog... ORPHA:2180
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Hyp... OMIM:617925
Adenocarcinoma Of The Esophagus
Obesity, Clinodactyly of the 5th toe ORPHA:99976
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Anauxetic Dysplasia 3
Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Metaphyseal cupping, Hip sub... OMIM:618853
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Hypospadias, Aplasia/Hypoplasia of the patella, M... OMIM:613803
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300009
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, ... OMIM:615547
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Impaired vibration sensation at ankles OMIM:615686
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyporeflexia of lower limbs, Hyperlordosis, Calcaneovalgus deformity, Distal amyotrophy, Areflexi... OMIM:162370
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Split hand, Distal sensory impairment, Hammertoe, Distal amyotrophy, Ulnar claw, ... OMIM:118220
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle atrophy, Impaired distal proprioception, Thenar muscle weakness, Split hand, Impair... OMIM:270685
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Paucity of anterior horn mo... OMIM:253310
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Pes planus, Unilateral renal agenesis, Pectus excavatum, Finger joint hypermobility, Micropenis OMIM:244200
Pseudopseudohypoparathyroidism
Short metacarpal, Short neck, Short metatarsal, Obesity, Osteoporosis, Brachydactyly OMIM:612463
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Pes planus, Hand muscle weakness, Abnormality of the foot musculature, Split... ORPHA:100998
X-Linked Intellectual Disability, Hedera Type
Pes planus, Calcaneovalgus deformity, Obesity, Dysmetria, Absent Achilles reflex, Scoliosis, Left... ORPHA:93952
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Clinodactyly of the ... OMIM:201000
Burn-Mckeown Syndrome
Unilateral renal agenesis, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Hypomimic face OMIM:608572
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Craniosynostosis, Micrognathia, Ri... ORPHA:261197
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... ORPHA:65759
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna... ORPHA:171839
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Obesity, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... OMIM:254090
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... ORPHA:3454
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Broad distal phalanx of the ... OMIM:619194
Dysequilibrium Syndrome
Skeletal muscle atrophy, Ataxia ORPHA:1766
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviati... OMIM:618291
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Split hand, Distal sensory impairment, Distal amyotrophy, Talipes equinovarus OMIM:607831
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... OMIM:618323
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Ataxia, Urinary incontinence, Structural foot ... ORPHA:464282
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Shor... OMIM:613686
Cdags Syndrome
Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Short clavicles, Lambdoi... OMIM:603116
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Large for gestational age, Micrognathia, Hem... OMIM:213980
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Short neck, Metatarsus adductus, Micrognathia, Calcaneovalgus ... OMIM:616266
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Kyphosis, Scoliosis, Pes cavus ORPHA:101078
Craniometaphyseal Dysplasia, Autosomal Dominant
Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic gird... OMIM:123000
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Absent patellar reflexes, Absent Achilles refl... OMIM:253400
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Hypospadias, Short metatarsal, Spinal canal stenosis, Advanced ossification of ... OMIM:614613
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Multiple joint dislocation... OMIM:245600
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Lower limb a... ORPHA:1703
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contr... OMIM:606631
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Obesity, Abnormal morphology of ulna, Short neck ORPHA:2233
Xq27.3Q28 Duplication Syndrome
Short foot, Truncal obesity, Failure to thrive, Small hand ORPHA:261483
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Hypospadias, Micrognathia, Pectus excavatum, Ulnar deviation of finger, ... ORPHA:2013
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Gait ataxia, Distal sensory impairment, Hammertoe, Distal amyotrophy, Limb mus... OMIM:618387
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Fused cervical vertebrae, Sprengel a... OMIM:619227
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:277440
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Aplasia/hypoplasia of the e... OMIM:146000
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Urina... OMIM:606071
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Impaired pain sensation, Abnormal foot morphology, Upper limb amyot... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Split hand, Distal sensory impairment, Hammertoe, Distal amyotrophy, Talipes equi... OMIM:604563
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, D-2... ORPHA:99646
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli... OMIM:616229
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Obesity, Short neck ORPHA:2183
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... ORPHA:171706
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge... ORPHA:3306
Allan-Herndon-Dudley Syndrome
Hallux valgus, Pes planus, Ataxia, Pectus excavatum, Flexion contracture, Athetosis, Generalized ... OMIM:300523
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... OMIM:268310
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Proximal placement of thumb OMIM:618624
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Split hand, Distal sensory impairment, Hammertoe, Distal amyotrophy, Ulnar claw, ... OMIM:118200
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Micrognathia, Fl... OMIM:301830
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Osteomalacia, Irregular, rachi... ORPHA:289157
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl... ORPHA:1788
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Recurrent urinary tr... OMIM:609033
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture... OMIM:305620
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph... ORPHA:93316
Spastic Paraplegia 20, Autosomal Recessive
Pes cavus, Ulnar deviation of the hand, Kyphoscoliosis, Impaired vibration sensation at ankles, F... OMIM:275900
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... OMIM:253010
Spinal Muscular Atrophy, Ryukyuan Type
Pes cavus, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Takenouchi-Kosaki Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... OMIM:616737
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B... OMIM:611555
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Osteopetrosis, Autosomal Dominant 2
Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplat... OMIM:166600
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Hypop... OMIM:614900
48,Xxyy Syndrome
Pes planus, Hypoplasia of penis, Ataxia, Talipes, Elbow dislocation, Obesity, Abnormal shoulder m... ORPHA:10
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ... ORPHA:2928
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Baralle-Macken Syndrome
Pes planus, Urinary incontinence, Tapered finger, Kyphosis, Obesity OMIM:619255
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Small for gestational age, Proximal placement of thumb, Congenital dia... ORPHA:94065
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... ORPHA:582
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Joint stiffness, Abnorm... ORPHA:245
Myopathy, Myofibrillar, 8
Pes cavus, Scapular winging, Pes planus, Joint hypermobility, Spinal rigidity, Centrally nucleate... OMIM:617258
Rafiq Syndrome
Joint laxity, Ataxia, Short neck, Flexion contracture, Obesity, Truncal obesity, Clinodactyly of ... OMIM:614202
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Osteoporosis, Short thorax, Pedal... ORPHA:87876
Radial-Renal Syndrome
Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb OMIM:179280
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Hyposp... OMIM:210600
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Impaired pain sensation, Obesity, Hip dysplasia,... ORPHA:412035
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Myopathy, Myofibrillar, 6
Pes cavus, Thoracic scoliosis, Scapular winging, Facial palsy, Spinal rigidity, Knee flexion cont... OMIM:612954
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... OMIM:113500
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Ataxia, Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture, Small ha... OMIM:300055
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger OMIM:601355
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Proximal amyotrophy, Pect... OMIM:605355
Pde4D Haploinsufficiency Syndrome
Micrognathia, Short metatarsal, Irregular vertebral endplates, Bilateral coxa valga, Short phalan... ORPHA:439822
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Proximal amyotrophy, Joint subluxation, Vesicoureteral reflux, Joint h... OMIM:606408
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Congenital diaphragmatic hernia... OMIM:616546
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Organic aciduria, Generalized amyotrophy, Scoli... OMIM:614707
Shprintzen-Goldberg Syndrome
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... ORPHA:2462
Prune Belly Syndrome
Multicystic kidney dysplasia, Congenital hip dislocation, Recurrent urinary tract infections, Ren... ORPHA:2970
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot... OMIM:271225
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Micrognathia, Renal atrophy, Bell-shaped thorax, Conge... OMIM:618578
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Cervical cord compression, Short palm, Joint laxity, Barrel-shaped... OMIM:607095
Hypertrophic Neuropathy Of Dejerine-Sottas
Pes planus, Kyphoscoliosis, Split hand, Impaired distal vibration sensation, Distal sensory impai... OMIM:145900
11Q22.2Q22.3 Microdeletion Syndrome
Micrognathia, Small hand, Obesity, Short foot, Clinodactyly of the 5th finger, Brachydactyly ORPHA:444002
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spinal muscular atrophy, Distal amyotrophy, Scoliosis, Foot dorsiflexor weakness OMIM:617207
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, M... OMIM:134780
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Impaired distal vibration sensatio... OMIM:618279
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Thenar muscle atrophy, Distal sensory impairment, Hammertoe, Distal amyotrophy, Pes cavus, Foot d... OMIM:606483
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Talipes equinovarus OMIM:615683
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Paresthesia ORPHA:85162
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Pes planus, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Disproportionate tall ... ORPHA:300179
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... ORPHA:3109
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Micrognathia, P... OMIM:212780
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Osteopenia, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Clinoda... OMIM:617877
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Tapered fin... ORPHA:464311
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Talipes calcaneovalgus, Distal sensory... OMIM:118300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal f... ORPHA:73230
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... ORPHA:2311
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly OMIM:615984
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Flexion contracture, Talipes equinovarus OMIM:613162
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Ataxia, Micrognathia, Dysmetria, Dysdi... OMIM:618356
Classic Multiminicore Myopathy
Microretrognathia, Pes planus, Absent muscle fiber merosin, Multiple joint contractures, Spinal r... ORPHA:324604
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradia... ORPHA:3404
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus, Distal sensory impair... OMIM:613710
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad hallux, Abnormality of the kidney, Micrognathia, Obesity, Scoliosis, Clinodactyly of the 5t... OMIM:610543
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Spinal cord compres... ORPHA:93346
Temple Syndrome
Small for gestational age, Small hand, Obesity, Short foot, Scoliosis, Clinodactyly of the 5th fi... ORPHA:254516
Microcephaly-Micromelia Syndrome
Micromelia, Short neck, Absent thumb, Absent radius, Craniosynostosis, Humeroradial synostosis, M... OMIM:251230
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Skeletal muscle atrophy, Limitation of movement at ankles, Urinary ... ORPHA:100988
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Broad hallux, Facial hypotonia, Postaxial polydactyly, Unilateral renal ... ORPHA:457284
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,... OMIM:120400
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosis, ... OMIM:218330
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,... ORPHA:98856
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... ORPHA:958
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Large for gestational... OMIM:239850
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Failure to thrive, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal a... ORPHA:464306
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Joint hypermobility, Scoliosis OMIM:619504
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Acromicria, Small hand, Obesity, Short foot, Clinodactyly ORPHA:254525
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures, Joint stiffness, Osteolysis, Abnormal ... ORPHA:2028
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... OMIM:617519
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Nephronophthisis 15
Polydactyly, Obesity, Nephronophthisis OMIM:614845
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Nephrolithiasis, Dermatan sulfate excretion in ur... OMIM:619698
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... ORPHA:3035
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Pes planus, Short metacarpal, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, ... OMIM:612350
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Kyphosis, Chronic kidney ... ORPHA:261222
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Renal hypoplasia, Patellar hypoplasia, Obesity, Abnormal con... ORPHA:464288
7Q11.23 Microduplication Syndrome
Pes planus, Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Congenital diaphra... ORPHA:96121
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Micrognathia, Missing ribs, Hemivertebrae, Hydronephrosis OMIM:220210
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... OMIM:610797
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Pes planus, Down-sloping shoulders, Micrognathi... OMIM:616200
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Short neck, Pectus excavatum, Small hand, 2-3 to... ORPHA:284180
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Ataxia, Obesity, Hand polydactyly, D... ORPHA:2377
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Scoliosis OMIM:618244
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus exca... OMIM:619131
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Obesity, Broad foot, Brachydactyly ORPHA:3085
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Dermatosparaxis Ehlers-Danlos Syndrome
Joint dislocation, Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora... ORPHA:1901
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Camptodactyly of finger, Missing ribs ORPHA:1759
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Skeletal muscle atrophy, Sh... ORPHA:110
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Obesity... OMIM:615996
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... ORPHA:85293
Achondrogenesis Type 1B
Micromelia, Micrognathia, Short neck, Abnormal enchondral ossification, Short thorax, Abnormal ri... ORPHA:93298
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... ORPHA:583
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Micrognathia, Small hand, Obesity, Short foot, Truncal obesity, Scolio... ORPHA:96184
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Recurrent urinary tract infections, Ataxia, Unilateral renal agenesis, Hyperlordosis,... ORPHA:221139
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Cubitus valgus, Truncal obesity, Pectus excavatum, Tapered finger ORPHA:85280
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Se... OMIM:259420
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Diastasis recti, Unilateral renal agenesis, Bifid distal phalanx of th... OMIM:618419
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... ORPHA:3320
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosi... ORPHA:3082
Myopathy, Distal, 3
Abnormal foot morphology, Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnor... OMIM:610099
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Short Stature, Microcephaly, And Endocrine Dysfunction
Ataxia, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Dysmetria, Micropenis, Trunc... OMIM:616541
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Micrognathia, Prominent protruding coccyx, Obesity, Abnormal sacral segmentation, Joint hypermobi... ORPHA:480907
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Barrel-shaped chest, Recurrent fractur... OMIM:610915
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Bilateral renal hypoplasi... ORPHA:508488
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Pectus carinatum, Type 1 musc... ORPHA:98902
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Obesity, Genu valgum, Joint hy... ORPHA:1035
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis ORPHA:2512
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Senior-Loken Syndrome 9
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointers... OMIM:616629
Chung-Jansen Syndrome
Micrognathia, Tapered finger, Obesity, Hip dysplasia, Clinodactyly of the 5th finger, Joint hyper... OMIM:617991
Microduplication Xp11.22P11.23 Syndrome
Pes planus, Toe syndactyly, Pes cavus, Obesity ORPHA:217377
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Scoliosis, Joint hyperflexibility ORPHA:1188
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita... ORPHA:2260
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Short femur, Joint laxity, Short neck, Microg... OMIM:616145
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Pes cav... OMIM:605588
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Proximal tubulopathy, Hyperechog... OMIM:614576
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... ORPHA:3258
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Xylt1-Cdg
Joint dislocation, Pes planus, Joint laxity, Coxa valga, Flared metaphysis, Truncal obesity, Shor... ORPHA:370930
Megalencephaly
Truncal obesity, Long penis, Genu valgum, Short neck ORPHA:2477
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathia, Joint stiffness, Vertebr... ORPHA:1166
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Nar... OMIM:312870
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Hypercalciuria, Nephrolithiasis, Reduced bon... ORPHA:157215
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, S... ORPHA:289176
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Short neck, Micrognathia, Split hand, Micropenis, Congenit... OMIM:157900
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Short neck, Short thorax, Renal hypoplasia, Cutaneous ... OMIM:617666
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Gait ataxia, Distal sensory impairment, S... OMIM:614895
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Arachnodactyly, Pectus excavatum, Pectus carinatum, Disproportionate tall stature, ... OMIM:301039
Wilson-Turner Syndrome
Pes planus, Micrognathia, Tapered finger, Small hand, Short foot, Truncal obesity, Pes cavus ORPHA:3459
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Short metatarsal, Obesity, Osteoporosis, Subcutaneous os... OMIM:103580
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win... ORPHA:198
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Dysmetria, Hammertoe, Distal amyotrophy, Pes cavus OMIM:618438
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Swan neck-like deformities of the fingers, Ataxia, Pe... OMIM:270550
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Aplasia/... ORPHA:1647
Momo Syndrome
Short neck, Large for gestational age, Obesity, Femoral bowing, Large hands, Short sternum, Overg... ORPHA:2563
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Atrophy of the spinal cord, Lower limb amyotrophy, Upper limb amyot... ORPHA:100986
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence, Impaired distal proprioception, Lower limb amyotrophy, Impaired vibration s... OMIM:270800
Prader-Willi Syndrome Due To Imprinting Mutation
Short foot, Abnormal ulnar metaphysis morphology, Small hand, Obesity ORPHA:177910
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Multiple prenatal fractures, Abnormal thorax ... ORPHA:171430
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Abnormality of the bladder ORPHA:247604
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age OMIM:617119
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Skeletal muscle atrophy, Short femur, Hypospadias, Flexion contracture, Ragged-red... ORPHA:17
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... ORPHA:3472
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Hypospadias, Short neck, Micrognathia, Kyphosis, Missing ... ORPHA:7
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Short neck, Abnormal encho... ORPHA:93299
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... ORPHA:3429
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy, Rocker bottom foot, Joint hyperflexibility ORPHA:85283
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Spinal rigidity, Centrally nucleated skel... OMIM:602771
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Small for gestational age, Ovoid vertebral bodies, Anterior rib cupping, Met... OMIM:260400
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Lim... ORPHA:95434
Seckel Syndrome 5
11 pairs of ribs, Pes planus, Hypospadias, Micrognathia, Short middle phalanx of finger, Scoliosi... OMIM:613823
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ataxia OMIM:613402
Melorheostosis
Skeletal muscle atrophy, Increased bone mineral density, Lower limb asymmetry, Joint stiffness, A... ORPHA:2485
Gorham-Stout Disease
Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Spinal cord compression,... ORPHA:73
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th... ORPHA:1120
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Tapered finger, Short toe, Truncal obesity, Joint h... ORPHA:127
Dent Disease
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... ORPHA:1652
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Short neck, Micrognathia, Small hand, Short foot, Tr... OMIM:300882
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Mehmo Syndrome
Hypoplasia of penis, Tapered finger, Obesity, Talipes equinovarus, Micropenis ORPHA:85282
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Truncal obesity, Abnormal metacarpa... ORPHA:3224
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Congenital dia... ORPHA:1001
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Micrognathia, Joint stiffness, Ulnar... ORPHA:1147
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Short neck, Obesity, Shield chest, Cubitus valgus, Brachydactyly ORPHA:247768
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Horseshoe kidney, Narrow chest, Calcification... ORPHA:2867
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, Hypoplastic... ORPHA:93315
48,Xxxy Syndrome
Pes planus, Hypoplasia of penis, Down-sloping shoulders, Short neck, Coxa valga, Elbow dislocatio... ORPHA:96263
Chromosome 17Q12 Deletion Syndrome
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... OMIM:614527
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Unilateral renal agenesis, Micrognathia, Failure to thrive, Hydronephr... OMIM:609757
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy OMIM:613723
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Femoral bowing OMIM:615066
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Failure to thrive, Ataxia, Type 1 muscle fiber predominance OMIM:618276
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Lower limb muscle weakness, Dysmetria, Ankle clonus, Urinary bladder sphincter dysfunctio... OMIM:610357
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Micrognathia, Knee flexion contracture, Facial diplegia, Distal arthrogr... OMIM:616286
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Ves... ORPHA:96061
Harel-Yoon Syndrome
Ataxia, Micrognathia, Talipes equinovalgus, Pectus carinatum, Hip dysplasia, Distal amyotrophy, S... OMIM:617183
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia... ORPHA:195
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Abnormal foot morphology, Limb ataxia, Degeneration of anterior ... OMIM:607596
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Abnormal clavicle morphology, Camptodacty... ORPHA:3138
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st... OMIM:305600
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Irregular vertebral end... OMIM:222765
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Overlapping toe, Abnormality of the kidney, Hypospadias, Unil... ORPHA:363444
Coach Syndrome 1
Ataxia, Unilateral renal agenesis, Postaxial hand polydactyly, Multiple small medullary renal cys... OMIM:216360
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micrognathia, Missing ribs, Abnormal... ORPHA:3301
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Pes planus, Small for gestational age, Failure to thrive in infancy, Kyp... ORPHA:59
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Branchiootorenal Syndrome 1
Renal malrotation, Congenital hip dislocation, Facial palsy, Unilateral renal agenesis, Renal ste... OMIM:113650
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... ORPHA:163966
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb muscle weakness, Flexion contracture, Dysmetria, Spinocerebel... OMIM:312920
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, D... OMIM:618265
Leopard Syndrome 1
Scapular winging, Hypospadias, Kyphoscoliosis, Short neck, Unilateral renal agenesis, Limited elb... OMIM:151100
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:2578
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... ORPHA:85167
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab... ORPHA:436
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Muscular dystrophy, Scoliosis, Generalized amyotrophy, Joint contracture OMIM:616516
Bardet-Biedl Syndrome 8
Hypospadias, Renal dysplasia, Postaxial polydactyly, Obesity OMIM:615985
11P15.4 Microduplication Syndrome
Large hands, Obesity ORPHA:300305
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Micromelia, Short neck, Fetal pyelectasis, Failure to thrive, Adducted thumb ORPHA:50810
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Urinary incontinence, Achilles tendon contracture, Scolio... OMIM:607225
6Q16 Microdeletion Syndrome
Micrognathia, Tapered finger, Abnormal thorax morphology, Obesity, Long foot ORPHA:171829
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, H... ORPHA:468631
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Horseshoe kidney, C... OMIM:617088
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... OMIM:607634
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... ORPHA:2475
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... OMIM:142900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... ORPHA:2050
Subaortic Stenosis-Short Stature Syndrome
Short neck, Micrognathia, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones ORPHA:3191
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Microretrognathia, Hypoesthesia, Obesity, Scoliosis, Lower limb mus... OMIM:619737
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Ectopic kidney, Micrognathia, Osteopoikilosis, Renal hypoplasia, Horsesh... ORPHA:94063
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Renpenning Syndrome
Skeletal muscle atrophy, Hypospadias, Cachexia, Joint stiffness, Abnormal thumb morphology, Pectu... ORPHA:3242
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... ORPHA:90103
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Limb muscle weak... OMIM:607458
Cohen Syndrome
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Small f... OMIM:216550
Laurence-Moon Syndrome
Micropenis, Polydactyly, Obesity, Ataxia OMIM:245800
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia ORPHA:1508
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Talipes cavus equinovarus, I... OMIM:601455
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebr... OMIM:617140
Cleidocranial Dysplasia
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... ORPHA:1452
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Micrognathia, Preaxial hand polydactyly,... ORPHA:93271
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... OMIM:276820
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... OMIM:250250
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Renal insufficiency, Rhizomelia, Craniosynostosis, Short neck, Microgna... OMIM:613610
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Obesity, Micropenis, Hydron... OMIM:619185
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Joint contracture, Failure to thrive, Spinal muscular atrophy OMIM:616081
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Talipes, Recurrent fractures, Joint st... ORPHA:83
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... ORPHA:169186
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum, Overgrowth, Micropenis, Hydronephrosis, Joint hypermobility OMIM:617798
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus ... ORPHA:2461
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Tall stature, Arachnodactyly, Joint hyp... ORPHA:2463
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Rocker bottom foot, Kyphoscoliosis, Short neck, Micrognathia, Flexion contractu... OMIM:618947
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, At... ORPHA:480
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Cone-shaped epiphysis, Obesity OMIM:606772
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Distal sensory impairment, Hammertoe, Distal amyotrophy, Pes... OMIM:614436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Biemond Syndrome Type 2
Preaxial polydactyly, Obesity, Hypospadias ORPHA:141333
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Rhizomel... OMIM:611209
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Abdominal obesity, Muscular dystrophy, P... OMIM:615980
Smith-Magenis Syndrome
Pes planus, Toe syndactyly, Failure to thrive in infancy, Renal hypoplasia/aplasia, Impaired pain... ORPHA:819
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Obesity, Cone-shaped epiphyses of the 2nd to... ORPHA:397973
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly... OMIM:619269
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Urinary incontinence, Gait ataxia, Urinary urgency, Abnormal pelvic... OMIM:601162
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormality of the spinocerebellar tracts, Areflexia of lower limbs, Sco... ORPHA:329336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Cerebrocostomandibular Syndrome
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... OMIM:117650
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... ORPHA:86812
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post... OMIM:615986
Bardet-Biedl Syndrome 3
Obesity, Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Small hand, Obesity, Genu... OMIM:618443
Silver-Russell Syndrome
Decreased muscle mass, Sandal gap, Hypospadias, Cachexia, Failure to thrive in infancy, Micrognat... ORPHA:813
Fried Syndrome
Skeletal muscle atrophy, Scoliosis ORPHA:85335
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short neck, Missing ribs, Coronal hypospadias, Lumbar hemivertebrae, Talipes equinovarus, Clinoda... OMIM:619859
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis OMIM:126550
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Sternocleidomastoid amyotrophy, Short neck, Small hand, Abnormal rib morphology, Shor... ORPHA:488434
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Joint laxity, Hypospadias... ORPHA:75857
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... OMIM:617072
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Somatic sensory dysfunction, Decreased/absent ankle reflexes, Progressive cerebellar ataxia, Lowe... ORPHA:1177
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Scoliosis ORPHA:101082
Narcolepsy Type 1
Obesity ORPHA:2073
Verheij Syndrome
Joint laxity, Vertebral fusion, Renal agenesis, Small for gestational age, Short neck, Hemiverteb... OMIM:615583
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Ataxia, Lower limb muscle weakness, Split hand, Distal sensory impairment, Pes cavus, Lower limb ... OMIM:617882
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Short neck, Renal hypoplasia/aplasia, M... ORPHA:3015
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Short metatarsal, Obesity, Osteoporosis, Low urinary cyclic AMP res... OMIM:612462
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Hypospadias, Craniosynostosis, Short neck, Kypho... ORPHA:254346
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Cubitus valgus, Truncal obesity OMIM:300471
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Hypospadias, Joint hypermobility, Joint stiffness, Short long bone, Scoliosis, ... OMIM:619184
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Broad hallux, Arachnodactyly, Ataxia, Flexion c... ORPHA:481152
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Micrognathia, Pectus excavatum, ... OMIM:606851
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... OMIM:620285
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Glandular hypospadias, Talipes equinovarus, Short tibia, Limb hypertonia OMIM:620306
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Urinary bladder s... OMIM:300266
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist... ORPHA:800
Mitochondrial Complex I Deficiency, Nuclear Type 17
Pes planus, Skeletal muscle atrophy, Ataxia, Scoliosis OMIM:618239
Wieacker-Wolff Syndrome
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip... OMIM:314580
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Pes planus, Hypospadias, Proximal placement of thumb, Tapered finger, Short... ORPHA:251071
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Distal sensory impairment, Hammertoe, Distal amyotrophy, Ulnar claw OMIM:214400
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies,... ORPHA:1458
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Joint stiff... ORPHA:2167
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... ORPHA:487796
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... OMIM:615349
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Impaired pain sensation, Limb ataxia, Gait ataxia, Distal sensory impair... OMIM:616719
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ... OMIM:601389
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... OMIM:603387
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Clinodactyly, Tall stature OMIM:618089
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... OMIM:615994
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thum... ORPHA:435638
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Abnormality of the urinary system, Scoliosis, Pes cavus, Impaired vibrat... ORPHA:101006
Kabuki Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... ORPHA:2322
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micromelia... ORPHA:1318
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis ante... ORPHA:98905
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Torticollis, Stiff neck, Short neck, Micrognathia, Increased variability in m... OMIM:617022
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Short neck, Micrognathia, Hypercalciuria, Nephrocalcinosis, Tal... OMIM:300990
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Hypoesthesia, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Positive Romberg... OMIM:601098
Charcot-Marie-Tooth Disease, Type 4C
Facial palsy, Distal sensory impairment, Upper limb muscle weakness, Hammertoe, Distal amyotrophy... OMIM:601596
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... OMIM:231070
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Slender finger, Short neck OMIM:613192
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Sandal gap, Ataxia, Tapered finger, Obesity, Scoliosis, Clinodactyly of the 5th finger, Tall stature OMIM:618430
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra... ORPHA:2145
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short neck, Sho... OMIM:612921
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Somatic sensory dysfunction, Ragged-red muscle fibers, Lower limb a... OMIM:616924
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Short neck, Micrognat... OMIM:614083
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif... OMIM:607323
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Micrognathia, Positional foot deformity, Gait ataxia, Pectus carinatum, Hip dysplasia, 3-Methylgl... ORPHA:496790
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Pectus excavatum, Achilles tendon contracture, Type 1 muscle fiber atrop... OMIM:310300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... ORPHA:2636
Wagr Syndrome
Displacement of the urethral meatus, Obesity, Scoliosis, Micrognathia ORPHA:893
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Muscular dys... OMIM:616827
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Joint stiffness, Kyphosis, Bo... ORPHA:2047
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171433
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Lacticaciduria, Distal amyotrophy, Scoliosis, Weakness of facial musculature... OMIM:618811
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... OMIM:112250
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Skeletal muscle atrophy, Cachexia, Pectus excavatum, Kyphosis, Asymmetry of th... ORPHA:1969
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b... OMIM:274000
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of lon... ORPHA:98913
Bardet-Biedl Syndrome 21
Overweight, Postaxial hand polydactyly, Obesity, Horseshoe kidney OMIM:617406
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Osteoporosis, Nephrolithiasis, Obesity, Abdominal obesity, Bic... OMIM:219090
Oculoskeletodental Syndrome
Renal agenesis, Small for gestational age, Elbow flexion contracture, Hypercalciuria, Macroglossi... OMIM:618440
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Micropenis, Hypospadias, Ataxia, Tapered finger, Abnormal foot morphology, Scoliosis, Hallux valg... ORPHA:268261
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone... OMIM:600057
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, ... OMIM:270400
Laron Syndrome
Hypoplasia of penis, Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, Truncal o... ORPHA:633
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Plantar flexion contracture, Absent Achilles reflex, Arthrogryposis-like... OMIM:620011
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Obesity, Madelung deformity, Hip dysplasia, Limb undergrowth, Lumbar ... ORPHA:319675
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... OMIM:158900
Pallister-Hall Syndrome
Ectopic kidney, Large for gestational age, Hemivertebrae, Micropenis, Microretrognathia, Mesoaxia... ORPHA:672
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Hip dislocation, Athetosis, D... OMIM:219150
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait ataxia, Short foot, Scoliosis, Truncal ataxia OMIM:312750
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Micromelia, Short neck, Osteomalacia, Recurrent fractures, J... ORPHA:2176
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Cervical cord compression, Hypoplastic cervical vertebrae, Vertebral hypoplasi... ORPHA:79345
Prader-Willi Syndrome
Osteopenia, Syndactyly, Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensat... OMIM:176270
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Micrognathia, Ragged-red muscle fibers, Generalized amyotrophy, Scapular wing... OMIM:620351
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Short toe, Generalized ... OMIM:139210
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuse... OMIM:269300
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Neurogenic bladder, Skeletal muscle atrophy, Prominent metopic ridge... ORPHA:488632
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... ORPHA:2926
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Joint contracture, Talipes equinovarus, Scoliosis OMIM:617481
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Abnormal shoulder morphology... ORPHA:2115
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ... OMIM:205100
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo... OMIM:615709
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Pain insensitivity, Short toe, Obesity, Short phalanx ... OMIM:600430
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Micr... ORPHA:193
Diamond-Blackfan Anemia 1
11 pairs of ribs, Failure to thrive, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Par... OMIM:105650
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Micrognathia, Pectus carinatum, Scoliosis, Joint contracture OMIM:615419
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Flexion contracture, Generalized amyotrophy, Narrow chest, Genu varum, ... OMIM:264090
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Athetosis, Scoliosis OMIM:500001
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis OMIM:612577
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes... ORPHA:352479
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness ORPHA:1216
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tapered finger, Flexion contracture, Dysmetria, Gait ataxia, Distal sensory impairment, D... OMIM:616505
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Congenital Myopathy 1B, Autosomal Recessive
Joint laxity, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, ... OMIM:255320
X-Linked Intellectual Disability, Stevenson Type
Tapered finger, Obesity, Genu valgum, Large hands, Long foot, Tall stature ORPHA:85325
Sialidosis Type 1
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Kyphosis, Incr... ORPHA:812
Sclerosteosis 1
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial pals... OMIM:269500
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicystic kidn... ORPHA:887
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormality of... ORPHA:3186
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... ORPHA:666
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Low urinary cyclic AMP response to PTH administration, Brachydactyly OMIM:603233
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Obesity, Tapered finger ORPHA:352530
Hallermann-Streiff Syndrome
Recurrent fractures, Tracheomalacia, Micrognathia, Small hand, Reduced bone mineral density, Shor... ORPHA:2108
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis OMIM:616684
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Abnormal thorax morphology, Puncta... OMIM:302960
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis, Failure to thrive in infancy, Obesity OMIM:613670
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Obesity ORPHA:3055
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contractur... OMIM:601559
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Failure to thrive, Rhizomelia, Hyperextensibility ... ORPHA:319182
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Micrognathia, Symphalangism affe... ORPHA:2990
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity OMIM:615981
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Pectus excavatum, Abnorm... ORPHA:2673
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... ORPHA:2848
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Pes planus, Osteopenia, Arachnodactyly, Kyphoscoliosis, Palmop... ORPHA:75496
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protru... OMIM:610682
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Prominent metopic ridge, Talipes, T... ORPHA:261290
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Short neck, Micrognathia, Obesity, Thoracic kyphosis, Overgrowth, Scoliosis OMIM:620250
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Scoliosis ORPHA:330050
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Scoliosis ORPHA:98896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged-red muscle fibers, ... OMIM:258450
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Osteopenia, Inc... OMIM:239000
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Ataxia, Unilateral renal agenesis, Micropenis, Pes cavus OMIM:308750
Pseudohypoparathyroidism Type 1A
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short neck,... ORPHA:79443
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Joint stiffness, Vertebr... ORPHA:1323
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Abnormal foot morphology, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal sensory impa... OMIM:137200
Clark-Baraitser Syndrome
Clinodactyly, Sandal gap, Obesity OMIM:617752
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Toe syndactyly, Camptodactyly of finger, Unilateral renal agenesis, Tapered finger... ORPHA:261337
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... ORPHA:1416
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... OMIM:616294
Down Syndrome
Joint laxity, Sandal gap, Renal hypoplasia/aplasia, Short neck, Impaired pain sensation, Obesity,... ORPHA:870
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Micrognat... ORPHA:314588
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Micrognathia ORPHA:140941
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Ulnar deviation of the hand, Limb joint contracture, Kyphoscoliosis OMIM:612079
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... OMIM:255160
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibi... ORPHA:2772
Mehmo Syndrome
Micropenis, Small for gestational age, Obesity, Gait ataxia OMIM:300148
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Long fingers, Flexion contracture, 2-3 toe syndactyly, F... OMIM:218000
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Limb joint contracture, Urinary incontinence, Ataxia, Pes cavus, Failure... ORPHA:309162
Pseudohypoparathyroidism Type 1C
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short neck,... ORPHA:79444
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Impaired temperature sensation, Small hand, Obesity, Osteoporosis, Short foot, Hip dy... ORPHA:398079
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Impaired propriocept... ORPHA:100999
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Unilateral renal agenesis, Micrognathia ORPHA:1064
Alagille Syndrome
Hypoplasia of the ulna, Failure to thrive, Renal hypoplasia/aplasia, Micrognathia, Abnormality of... ORPHA:52
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Pes... ORPHA:192
Man1B1-Cdg
Short neck, 2-3 toe syndactyly, Pectus carinatum, Truncal obesity, Clinodactyly of the 5th finger... ORPHA:397941
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Abnormal foot morphology, Flexion contract... OMIM:300243
Cockayne Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinen... ORPHA:191
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Joint stiffness, E... ORPHA:584
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney, Obesity OMIM:613464
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Wide penis, Hypoplastic vertebral bodies, Vesicoureteral reflux, Dilatation of renal ... ORPHA:3455
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Camptodactyly of finger, Urinary incontinence, Spinal muscular atrophy... OMIM:604320
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, Generalized amyotrophy, Scapul... OMIM:620369
Giant Axonal Neuropathy 1, Autosomal Recessive
Pes planus, Facial palsy, Distal sensory impairment, Distal amyotrophy, Areflexia of lower limbs,... OMIM:256850
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Micrognathia, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Oeis Complex
Duplicated collecting system, Absence of the sacrum, 11 pairs of ribs, Congenital hip dislocation... OMIM:258040
Autosomal Dominant Cutis Laxa
Osteopenia, Pes planus, Joint laxity, Genu recurvatum, Unilateral renal agenesis, Hip dislocation... ORPHA:90348
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Renal agenesis, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, ... OMIM:264480
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Finger joint hypermob... OMIM:618493
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Congenital hip dislocation, Increased body weight, Macroglossia, Wormi... OMIM:614450
Pycnodysostosis
Abnormal clavicle morphology, Persistent open anterior fontanelle, Micrognathia, Generalized oste... ORPHA:763
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Scolios... ORPHA:254875
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi... ORPHA:1112
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Penoscrotal Transposition
Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,... ORPHA:2842
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Intellectual Disability, Birk-Barel Type
Sacral dimple, Foot joint contracture, Spinal muscular atrophy, Micrognathia, Limited elbow flexi... ORPHA:166108
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Cap Myopathy
Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphol... ORPHA:171881
Intellectual Developmental Disorder, X-Linked 12
Joint laxity, Increased body mass index, Small for gestational age, Truncal obesity, Microphallus... OMIM:300957
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Micrognathia, Spina bifida, Flexio... ORPHA:2671
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Small for gest... ORPHA:97360
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Failure to thrive, Dysmetria OMIM:618251
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, Postaxial polydactyly, Obesity, Renal cyst OMIM:605231
Chromosome Xq27.3-Q28 Duplication Syndrome
Short foot, Abdominal obesity, Small hand, Small for gestational age OMIM:300869
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, Short neck, Joint stiffness, Short distal... ORPHA:2516
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o... ORPHA:3130
Camurati-Engelmann Disease
Skeletal muscle atrophy, Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Corti... OMIM:131300
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Mannosidosis, Alpha B, Lysosomal
Increased vertebral height, Limb ataxia, Femoral bowing, Gait ataxia, Macroglossia, Pectus carina... OMIM:248500
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Short toe, Obesity, Widely spaced toes, Proportionate tall stature, Joint hypermo... ORPHA:404443
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Charcot-Marie-Tooth Disease Type 4C
Neuropathic spinal arthropathy, Pes planus, Failure to thrive, Impaired pain sensation, Abnormal ... ORPHA:99949
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Flexion contracture, Hip dislocation, Abnormal foot morphology OMIM:614678
Aicardi Syndrome
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Ataxia, Unilateral renal agenesis, Micropenis, Pes cavus OMIM:308700
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp... ORPHA:2215
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Long hallux, Tapered finger OMIM:619854
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Hydronephrosis, Pectus carinatum, Abnormal pelvic girdle bone morph... ORPHA:3079
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormality of the ureter, Abnormal rib morphology, Abnorma... ORPHA:3378
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Distal sensory imp... OMIM:208920
Momo Syndrome
Short neck, Obesity, Large hands, Overgrowth, Short sternum, Long foot OMIM:157980
Oncogenic Osteomalacia
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foo... ORPHA:352540
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Hypospadias, Joint stiffness... ORPHA:2588
Zaki Syndrome
Sacral dimple, Toe syndactyly, Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Lon... OMIM:619648
9Q31.1Q31.3 Microdeletion Syndrome
Cervical kyphosis, Tapered finger, Short neck, Overweight, Small hand, Renovascular hypertension,... ORPHA:401923
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Skeletal muscle atrophy, Ataxia, Urinary incontinence, Kyphosis, Dy... ORPHA:88644
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Bowing of the legs, Rickets, Glycosuria, Aminoaciduria, Low-molecular-weight p... OMIM:615605
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Micrognathia, Aplasia of the pectoralis major muscle, Glan... ORPHA:1358
Nemaline Myopathy 10
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... OMIM:616165
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Ataxia, Urinary incontinence, Cachexia, C... ORPHA:300605
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Lower limb amyotrophy, Talipes equinovarus, Limb... ORPHA:401815
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... OMIM:620072
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Pes planus, Broad hallux, Short neck, 2-3 toe syndactyly, Horseshoe kidney, Increased body weight... OMIM:300860
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness, Scoliosis ORPHA:2590
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality of the elbow, Abno... ORPHA:93473
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Flexion contracture, Absent Achilles reflex, Ankle clonus, Distal amyotrophy, Scoliosis... OMIM:609541
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Areflexia of lower limbs, Scoliosis OMIM:615704
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal a... ORPHA:90324
White-Sutton Syndrome
Duplicated collecting system, Joint laxity, Facial hypotonia, Congenital diaphragmatic hernia, Sh... OMIM:616364
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Pes planus... ORPHA:2308
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe... OMIM:304150
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, Patent ur... OMIM:192350
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Skeletal muscle atrophy, Impaired pain sensation, Chorea, Impaired ... OMIM:164400
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Coxa vara, Narrow pelvis bone, Truncal obesity, Joint hyperflexibility, Abnormal epip... ORPHA:2637
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Skeletal muscle atrophy, Dysuria, Abnormal thumb morphology, Abnorm... ORPHA:101000
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Pes planus, Ataxia, Limb ataxia, Talipes equinovarus, Decreased body weight OMIM:617695
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Atrophy of the spinal cord, Abnormal cartilage matrix, Epiphyseal stippling, Ta... ORPHA:86822
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Lower limb asymmetry, Cranial hyperostosis, Renal hypopl... OMIM:612918
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Multiple joint contractures, Impaired vibration sensation in the lo... ORPHA:320406
Floating-Harbor Syndrome
Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated rad... ORPHA:2044
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Overweight, Atrophy of the spinal cord, Generalized limb muscle atrophy, Obesity, Distal ... ORPHA:2822
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormal rib morphology, Abnormal form of the v... ORPHA:93941
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Truncal obesity OMIM:219080
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis ORPHA:88643
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Kyphoscoliosis, Absent thumb,... ORPHA:500150
Smith-Magenis Syndrome
Pes planus, Impaired pain sensation, Abnormal renal morphology, Increased body weight, Abnormalit... OMIM:182290
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy, Urinary... OMIM:602099
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Distal sensory impairment, Upper limb muscle... ORPHA:254930
Insulin-Like Growth Factor I, Resistance To
Sandal gap, Micrognathia, Pectus excavatum, Small hand, Short foot, Truncal obesity, Abnormal rib... OMIM:270450
Immunodeficiency 61
Arthritis, Obesity OMIM:300310
Jacobsen Syndrome
Hypospadias, Short neck, Micrognathia, Missing ribs, Pectus excavatum, Flexion contracture, Clino... OMIM:147791
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Ataxia, Degeneration of anterior horn cells, Arthrogryposis multiplex co... ORPHA:2254
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Metopic synostosis, Decreased body weight ORPHA:477814
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Radio-Tartaglia Syndrome
Pes planus, Ataxia, Tapered finger, Micrognathia, Obesity, Scoliosis, Pes cavus, Brachydactyly OMIM:619312
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, ... OMIM:301066
Hypophosphatasia, Adult
Arthropathy, Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susc... OMIM:146300
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Congenital hip dislocation, Ataxia, Urinary incontin... ORPHA:496641
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Weight loss, Distal amyotrophy, Skelet... ORPHA:3208
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... OMIM:300559
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Joint laxity, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of t... OMIM:613776
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... OMIM:181510
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... OMIM:136140
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Morm Syndrome
Truncal obesity, Micropenis, Abnormality of the kidney ORPHA:75858
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Aredyld Syndrome
Craniofacial hyperostosis, Cachexia, Abnormality of the ureter, Abnormal pelvic girdle bone morph... ORPHA:1133
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Pectus carinatum, ... ORPHA:536545
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Scoliosis, Pes cavus ORPHA:96
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... ORPHA:280
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Microretrognathia, Joint laxity, Congenital hip dislocation, Atax... ORPHA:98914
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Micrognathia, Epispadias, Postaxial hand polydactyly, Preaxial p... OMIM:615948
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Microretrognathia, Joint laxity, Congenital hip dislocation, Atax... ORPHA:590
Kagami-Ogata Syndrome
Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion ... OMIM:608149
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Spina bifida, Hemivertebrae, Rib fusi... OMIM:304050
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Hyperphosphaturia, Rickets, Hypercalciuria, Generalized ami... ORPHA:2088
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Micrognathia, Pectus excavatum, Upper limb undergrowth, Renal cyst,... ORPHA:369837
Bardet-Biedl Syndrome 1
Syndactyly, Ataxia, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly,... OMIM:209900
15q26 overgrowth syndrome
Short neck, Micrognathia, Abnormal finger morphology, Vesicoureteral reflux, Long toe, Arachnodac... DECIPHER:81
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... ORPHA:254854
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... OMIM:309000
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Renal hypoplasia, Abnormality of the vertebral column, Abnormal v... OMIM:276950
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur... OMIM:166220
Trisomy 1Q
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... ORPHA:261344
Distal Deletion 12Q
Short neck, Ectopic kidney, Micrognathia, Proportionate tall stature, Aplasia/Hypoplasia of the m... ORPHA:96149
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Micrognathia, Flexion cont... OMIM:619503
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Impaired temperature sensation, Kyphosis, Flexion contracture, Small hand, Increased ... ORPHA:398069
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Renal insufficiency, Ataxia, Abnormal foot morphology,... ORPHA:773
Microphthalmia, Syndromic 3
Vertebral fusion, Hypospadias, Missing ribs, Hemivertebrae, Rib fusion, Supernumerary ribs, Micro... OMIM:206900
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Abnormal renal morphol... OMIM:207410
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Obesity, Camptodactyly of toe ORPHA:251038
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Hypospadias, Small for gestational age, Ataxia, Short foot, Renal tubula... OMIM:615471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Osteogenesis Imperfecta, Type I
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept... OMIM:166200
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Myopathy, Mitochondrial, And Ataxia
Ataxia, Micrognathia, Pectus excavatum, Dysmetria, Limb ataxia, Distal sensory impairment, Distal... OMIM:617675
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Sandal gap, Ataxia, Overweight, Small hand, 2-3 toe syndactyl... OMIM:619229
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence, Impaired proprioception, Impaired vibration sensation in the lower limbs, G... ORPHA:352641
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Knee cont... OMIM:620278
Cystinosis, Nephropathic
Skeletal muscle atrophy, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecul... OMIM:219800
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy, Foot osteomyelitis, Osteomyelitis, Impaired distal proprioception, Dista... OMIM:162400
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Hypospadias, Abnormality of the ... ORPHA:1606
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Failure to thrive, Recurrent fractures, Hyperextensibility of the knee, Micrognath... OMIM:601812
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Micrognathia, Generalized amyotrophy, Scoli... ORPHA:994
Neurooculorenal Syndrome
Hypoplasia of the bladder, Short hallux, Unilateral renal agenesis, Micrognathia, Stage 2 chronic... OMIM:620305
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness, Somatic sensory dysfunction OMIM:620378
Kleefstra Syndrome 1
Hypospadias, Tracheobronchomalacia, Abnormal renal morphology, Obesity, Macroglossia, Talipes equ... OMIM:610253
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Postaxial h... OMIM:308205
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Coronal cleft vertebrae, A... OMIM:620025
Gapo Syndrome
Abnormal clavicle morphology, Micrognathia, Abnormal thorax morphology, Nephrolithiasis, Abnormal... ORPHA:2067
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small for gestational age, Impaired temperature sensation, Small hand, Obesity, Pedal... ORPHA:98754
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Ataxia, Gait ataxia OMIM:215470
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... OMIM:182212
Alpha-Mannosidosis, Infantile Form
Osteopenia, Thickened ribs, Short neck, Oligosacchariduria, Pectus carinatum, Cortical thickening... ORPHA:309282
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Pentalogy Of Cantrell
Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Talipes, Abnormal tibia morphology,... ORPHA:1335
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Obesity, Syringomyelia, Overgrowth, Long foot OMIM:616831
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Ataxia, Tapered finger, Flexion contracture, Tru... OMIM:301072
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Talipes, Obesity, Enuresis, Scoliosis, Decreased body weight ORPHA:589821
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Micrognathia, Osteoporosis, Truncal obesity, Clinodactyly of the 5th f... ORPHA:73272
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Pectus excavatum, Plantar pits... ORPHA:77301
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Hemivertebrae, Rib fusion, Dysmetria, Ankle clonus, Scoliosis, Failure to t... OMIM:614688
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Hypospadias, Abnormality of the kidney, Micrognathia, Pectus excavatum, Epispadias... ORPHA:1772
Adiposis Dolorosa
Obesity OMIM:103200
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Limitation of joint mobili... ORPHA:261494
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Recurrent urinary tract infections, Scoliosis, Limb hypertonia OMIM:619527
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small for gestational age, Impaired temperature sensation, Small hand, Obesity, Pedal... ORPHA:98793
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal sensory impairment ORPHA:99944
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Coxa valga, Large for gestational age, Short neck, Micrognathia,... ORPHA:254519
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Athetosis, Generalized amyotrophy, Talipes ... OMIM:605013
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Neuraminidase Deficiency
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased... OMIM:256550
Intellectual Developmental Disorder, Autosomal Dominant 39
Bilateral talipes equinovarus, Obesity OMIM:616521
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105400
Tetrasomy 9P
Renal dysplasia, Joint dislocation, Sacral dimple, Hypoplastic scapulae, Recurrent urinary tract ... ORPHA:3310
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small for gestational age, Impaired temperature sensation, Small hand, Obesity, Pedal... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small for gestational age, Impaired temperature sensation, Small hand, Obesity, Pedal... ORPHA:177901
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Pes planus, Sandal gap, Failure to thrive in infancy, Abnormal foot morphology, Dec... ORPHA:477817
Schisis Association
Small for gestational age, Renal agenesis, Congenital diaphragmatic hernia, Micromelia, Spina bifida ORPHA:63862
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias ORPHA:276422
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia OMIM:183050
Mccune-Albright Syndrome
Hyperphosphaturia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal fe... ORPHA:562
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Generalized amyotrophy, Ab... ORPHA:275872
Joubert Syndrome 21
Ataxia, Renal cyst, Bell-shaped thorax, Short ribs, Hyperechogenic kidneys OMIM:615636
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Diastasis recti, Pectus excavatum, Flexion contracture, ... ORPHA:254528
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Osteoarthritis, Abnormal form of the ve... ORPHA:828
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Ulnar deviation of the 3rd finger, Congenital hip dislocation, Facial palsy, P... ORPHA:456312
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Short neck, Absent radius, Preaxial han... ORPHA:233
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial palsy, Limited wrist e... ORPHA:98915
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Multiple prenatal fractures, Flexion contractur... OMIM:616867
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, B... OMIM:300373
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Urinary incontinence, Impaired vibration sensation in the lower limbs... ORPHA:100993
Gracile Bone Dysplasia
Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Micropenis, Failur... OMIM:602361
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Tapered finger, Obesity, Enuresis nocturna, Brachydactyly OMIM:619680
Idiopathic Intracranial Hypertension
Back pain, Obesity ORPHA:238624
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal amyotrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608627
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, 3-4 finger cutaneous syndactyl... OMIM:181270
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... OMIM:151050
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Reduced bone mineral density, Enlarged thor... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Reduced bone mineral density, Enlarged thor... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Reduced bone mineral density, Enlarged thor... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Reduced bone mineral density, Enlarged thor... ORPHA:881
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Scoliosis OMIM:615157
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... OMIM:612852
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta, Joint hypermobility, Joint hyperflexibility ORPHA:230839
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Distal sensory impairment, Distal amyotrophy, Positive Romberg sign, Scolio... OMIM:601152
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hydronephrosis, Pol... OMIM:615989
Primrose Syndrome
Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Reduced bone mineral dens... OMIM:259050
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,... ORPHA:263508
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Pectus excavatum, Skeletal muscle atrophy, Failure to thrive OMIM:618603
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakne... ORPHA:466768
Angelman Syndrome
Ataxia, Obesity, Macroglossia, Progressive gait ataxia, Scoliosis OMIM:105830
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to thrive, Ataxia OMIM:618228
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Kyphoscoliosis ORPHA:3077
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Me... OMIM:146510
Native American Myopathy
Joint laxity, Skeletal muscle atrophy, Micrognathia, Abnormality of skeletal muscle fiber size, A... ORPHA:168572
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Nephrolithiasis, Reduc... ORPHA:56
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Ankle clonus, Scoli... OMIM:211530
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105550
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Hem... ORPHA:169805
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hypospadias, Tracheomalacia, Micrognathia, Small hand, Obesity, Fibular hypoplasia... ORPHA:444077
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k... OMIM:602200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Paget di... OMIM:615422
Axial Osteomalacia
Myopathy, Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Micrognathia, Cuboid-shaped vertebral bodies, Slender long... OMIM:612731
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio ... ORPHA:558
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Pes planus, Osteopenia, Congenital hip dislocation, Arachnodactyly, Protrusio ... OMIM:225400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Obesity, Scoliosis, Vesicoureteral reflux, M... OMIM:618653
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Spinal rigi... OMIM:254940
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spinal muscular atrophy, Distal amyotrophy, Scoliosis, Foot dorsiflexor weakness ORPHA:496756
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior ... OMIM:614008
Idiopathic Camptocormia
Myositis, Abnormal intervertebral disk morphology, Amyotrophic lateral sclerosis, Fatty replaceme... ORPHA:1320
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Pes planus, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex ... OMIM:617143
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Ataxia, Obesity, Scoliosis ORPHA:98794
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Enures... OMIM:619743
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Chops Syndrome
Tracheomalacia, Obesity, Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vertebral fusion... OMIM:616368
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Skeletal muscle atrophy OMIM:614932
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Joint... OMIM:615873
Werner Syndrome
Renal neoplasm, Skeletal muscle atrophy, Increased bone mineral density, Rocker bottom foot, Join... ORPHA:902
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General... OMIM:613388
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Tibial bowing, Femoral bowing, ... OMIM:616482
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Skeletal muscle atrophy, Abnor... ORPHA:570
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Short neck, Ap... ORPHA:2879
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Metopic synostosis, Failure to thrive, Small for gestational age, Unilateral renal agenesis OMIM:620024
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71526
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Limb muscle weakness ORPHA:97229
Cystinosis
Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Myopathy, Aminoaciduria, Ne... ORPHA:213
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Perrault Syndrome 4
Osteoporosis, Obesity, Gait ataxia, Disproportionate tall stature, Cubitus valgus OMIM:615300
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... ORPHA:1300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Dysmetria, Positive Romberg sign, Lowe... OMIM:616479
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Osteomalacia, ... ORPHA:534
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Failure to thrive OMIM:560000
14Q11.2 Microduplication Syndrome
Obesity, Micrognathia ORPHA:261229
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Short neck, Micrognathia, Upper limb undergrowth, Truncal obesity, ... ORPHA:529962
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Preaxial polydactyly, Obesity, Pes cavus, Abnormal neuron morphology ORPHA:163681
Leptin Deficiency Or Dysfunction
Micropenis, Obesity OMIM:614962
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thrive OMIM:602722
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... ORPHA:1507
Lissencephaly 8
Skeletal muscle atrophy, Talipes equinovarus OMIM:617255
Monosomy 13Q34
Pes planus, Micrognathia, Postaxial hand polydactyly, Fetal pyelectasis, Obesity, Postaxial foot ... ORPHA:96168
Farber Disease
Skeletal muscle atrophy, Abnormality of the knee, Abnormal foot morphology, Short toe, Flexion co... ORPHA:333
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Failure to thrive, Unilateral renal agenesis ORPHA:79284
Ane Syndrome
Multiple joint contractures, Ulnar deviation of the hand, Kyphoscoliosis, Motor neuron atrophy, G... ORPHA:157954
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Limb Body Wall Complex
Thoracoabdominal wall defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involvi... ORPHA:2369
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity ORPHA:77296
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Kyphoscoliosis, Equinov... ORPHA:466722
Retinitis Pigmentosa
Hypoplasia of penis, Obesity ORPHA:791
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Pilonidal sinus, Unilateral renal agenesis, Micrognathia, O... OMIM:188400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Long foot, Large for gestational age, Abnormal t... ORPHA:500095
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Obesity, Hip dysplasia, Cutaneous ... OMIM:616078
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Failure to thrive, Arachnodactyly OMIM:616420
Iniencephaly
Rhizomelia, Rocker bottom foot, Renal agenesis, Hyperlordosis, Congenital diaphragmatic hernia, S... ORPHA:63259
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Abnormality of masticatory m... ORPHA:98755
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Joint hypermobility, Obesity, Craniosynostosis OMIM:619056
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Nephritis, Ataxia OMIM:274240
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Prader-Willi Syndrome Due To Translocation
Pes planus, Overlapping toe, Abnormality of the kidney, Short neck, Micrognathia, Small hand, Obe... ORPHA:177907
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Williams Syndrome
Osteopenia, Hypoplasia of penis, Micrognathia, Abnormal form of the vertebral bodies, Abnormal tu... ORPHA:904
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Ulnar deviation of the hand, Small for gestational age, R... OMIM:208150
Prader-Willi Syndrome
Osteopenia, Impaired temperature sensation, Small hand, Osteoporosis, Increased susceptibility to... ORPHA:739
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Multicystic kidney dysplasia, Congenital muscular torticollis,... ORPHA:2538
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Small for gestational age, Absent thumb, Absent rad... OMIM:227645
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Obesity ORPHA:411515
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Absent frontal... OMIM:301040
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Enuresis nocturna, Clinodactyly of the 2nd finger, Galactos... ORPHA:251061
L1 Syndrome
Skeletal muscle atrophy, Adducted thumb ORPHA:275543
Carpenter Syndrome 2
Short neck, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum, Cutaneou... OMIM:614976
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Capita... ORPHA:289
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, C... ORPHA:251004
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Epispadias, Rib fusion, Vertebral arch anomaly, Cutaneo... OMIM:148050
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria ORPHA:1933
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria, Ataxia, Obesity, Joint hypermobility OMIM:620191
Wilson Disease
Back pain, Increased body weight, Weight loss, Proximal muscle weakness in lower limbs, Arthritis... ORPHA:905
Vacterl With Hydrocephalus
Absence of the sacrum, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Micrognathia, Hypo... ORPHA:3412
Webb-Dattani Syndrome
Neurogenic bladder, Hip dislocation, Obesity, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Ataxia, C... ORPHA:42
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Cachexia, Micrognathia, Pectus excavatum, Myopathy, Joint hyperflexibili... ORPHA:109
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... OMIM:619727
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, 11 pairs of ribs, Aplasia/Hypoplasia of the ph... ORPHA:79500
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture ORPHA:457205
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Rickets, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thrive OMIM:611590
Aspergillosis
Osteomyelitis, Abnormality of the kidney, Abnormal rib morphology, Abnormal long bone morphology,... ORPHA:1163
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Hyporeflexia of low... ORPHA:98771
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Abnormality of the lower limb, Rickets, Renal phosphate wasting, Hypophosphatemic r... OMIM:193100
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... OMIM:277600
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Abnormal lower motor n... ORPHA:276244
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Kyphoscoliosis, Absent Achilles reflex, Pollakisuria, Urinary retention,... ORPHA:447760
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Renal hypoplasia, H... OMIM:620005
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Short neck, Micrognathia, Overlapping fingers, Failu... OMIM:608779
Trisomy 18
Microretrognathia, Camptodactyly of finger, Abnormality of the upper urinary tract, Congenital di... ORPHA:3380
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hydronephrosis, Micrognathia OMIM:607598
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E... ORPHA:2554
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Short neck, Proximal placement of thumb, Congenital diaphragmati... ORPHA:199
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Progressive cerebellar ataxia ORPHA:98757
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Sacral dimple, Brachydactyly, Recurrent urinary tract infections, Tethered cord... OMIM:617157
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Joint stiffness ORPHA:2400
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Osteoporosis, Obesity OMIM:610628
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal clavicle morphology, Ataxia, Joint stiffness, Avascular necro... ORPHA:581
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Abnormal foot morphology, Bone cyst, Abnormal upper motor neuron morphology... OMIM:221770
Spastic Paraplegia 39, Autosomal Recessive
Atrophy of the spinal cord, Distal amyotrophy, Distal lower limb muscle weakness, Ataxia OMIM:612020
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Recurrent urinary tract infections, Broad hallux, Hypospadias, Avascular necrosis o... ORPHA:353281
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Anterior rib cupping, Horizontal inferior border of scapula, Abnorma... OMIM:102700
Fryns Syndrome
Microretrognathia, Ureteral duplication, Hypospadias, Rocker bottom foot, Proximal placement of t... OMIM:229850
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... ORPHA:368
Renal Tubular Acidosis Iii
Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcinosis OMIM:267200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Tibialis muscle weakness, Distal sensory impairment, Upper limb muscle w... ORPHA:320375
Ataxia-Telangiectasia
Skeletal muscle atrophy, Failure to thrive, Ataxia ORPHA:100
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Short metatarsal, Spin... OMIM:608328
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Micrognathia, Gait ataxia, Elevated urine acetoacetic acid level... OMIM:620089
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Pes planus, Skeletal muscle atrophy, Hypospadias OMIM:619759
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Glutaric aciduria, Rhabdomyolysis, Lact... ORPHA:26791
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Vertebral fusion, Tet... OMIM:194190
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Mi... ORPHA:818
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Broad ribs, Mi... ORPHA:798
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Micrognathia, Flexion contracture, Hypoplastic ilia... OMIM:180849
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Aromatase Deficiency
Eunuchoid habitus, Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Obesity, Genu valgu... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Overlapping toe, Hypospadias, Small for gestational age, Tapered finger,... OMIM:309590
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Ataxia, Distal sensory impairment, Facial diplegia, Facial paralysis, Fa... OMIM:613559
Monosomy 9P
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Congenital... ORPHA:261112
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Nephrolithiasis, Nephrocalcinosis, Distal renal tub... OMIM:179800
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Urinary incontinence, Absent Achilles reflex, Distal sensory impairment, Pare... OMIM:263570
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Pes planus, Hypospadias, Kyphoscoliosis, Tapered finger, Short neck, Micrognathia, Renal hypoplas... OMIM:309580
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Hypospadias, Camptodactyly of finger, Delayed closure of the anterior fontanell... OMIM:607872
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity OMIM:610475
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormality of the vertebral spinous processes, Somatic sensory dysfunction, Ataxia, ... ORPHA:909
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Neurogenic bladder, Progressive cerebellar ataxia, Progressive gait atax... ORPHA:513436
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Dysmetria, Athetosis, Generalized amyotrophy, Limb hypertonia OMIM:617710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Cervical cord compression, Vesicoureter... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Cervical cord compression, Vesicoureter... ORPHA:353277
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Vesicoureteral refl... OMIM:157800
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Obesity OMIM:301013
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Retinitis Pigmentosa 74
Abnormal renal morphology, Polydactyly, Obesity OMIM:616562
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Brachydactyly OMIM:608624
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Myopathy, Weakness of facial musculature, Pes ... ORPHA:98673
Adiposis Dolorosa
Arthritis, Paresthesia, Obesity ORPHA:36397
Kallmann Syndrome
Pes planus, Hypoplasia of penis, Renal agenesis, Ataxia, Recurrent fractures, Obesity, Reduced bo... ORPHA:478
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Micrognathia, Fatty replacement of skeletal muscle, Flex... OMIM:255995
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Tubulointerstitia... OMIM:232500
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Methylmalonic aciduria, Dysmetria OMIM:615578
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Micrognathia, Scoliosis, Arthrogryposis mu... OMIM:617193
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Pes planus, Dilatation of renal calices, Obesity, Truncal obesity, Pes valgus, Short palm, Promin... ORPHA:466950
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Failure to thrive, Osteoporosis, Athetosis OMIM:257200
Alstrom Syndrome
Pes planus, Renal insufficiency, Kyphosis, Tubulointerstitial nephritis, Truncal obesity, Hyperos... OMIM:203800
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy, Distal sensory impairment OMIM:300614
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... OMIM:601701
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Small for gestational age, Methylmalonic aciduria, Facial diplegia, Amin... OMIM:612073
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Fing... ORPHA:79474
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chorea, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Gait ataxia, D... OMIM:606002
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Hyperphosphaturia, Calcification of the auricular cartilage, Failure to ... ORPHA:51608
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ... ORPHA:857
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Osteoporosis, Increased body weight, Nephrolithiasis, Proximal ... ORPHA:189427
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Osteopenia, Kyphosis, Osteoporosis, Truncal obesity OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Progressive cerebellar... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Progressive cerebellar... ORPHA:276241
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Large for gestational age, Rickets, Nephrocalcinosis, Aminoacidur... OMIM:616026
White-Sutton Syndrome
Duplicated collecting system, Joint laxity, Facial hypotonia, Congenital diaphragmatic hernia, Sh... ORPHA:468678
22Q11.2 Deletion Syndrome
Arachnodactyly, Hypospadias, Spina bifida, Short neck, Micrognathia, Abnormal thorax morphology, ... ORPHA:567
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Ren... ORPHA:18
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Pes planus, Micrognathia, Abnormal foot morphology, Obesity, Enuresis, Macroglossia, Clinodactyly... ORPHA:369950
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of the 5th... OMIM:194050
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Proteinuria, Delayed cranial suture closure, Decreased fibular diameter, ... OMIM:619127
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Hemiv... OMIM:118450
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Lacticaciduria, Methylmalonic aciduria OMIM:245400
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:614153
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Macrocephaly/Autism Syndrome
Joint laxity, Penile freckling, Large for gestational age, Obesity, Overgrowth OMIM:605309
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Obesity, Macroglossia, Vesicoureteral reflux, Failure t... ORPHA:96147
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Abnormal joint morphology ORPHA:2942
Bardet-Biedl Syndrome 20
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Obesity, Prea... OMIM:619471
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Prominent metopic ridge OMIM:618862
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Urinary incontinence, Impaired distal vibration sensation, Urinary reten... OMIM:616586
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged-red muscle fibers, ... OMIM:157640
Wilson Disease
Hyperphosphaturia, Proteinuria, Osteomalacia, Joint hypermobility, Hypoesthesia, Osteoarthritis, ... OMIM:277900
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Recon Progeroid Syndrome
Joint laxity, Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Long thumb OMIM:620370
Localized Scleroderma
Skeletal muscle atrophy, Abnormality of the kidney, Flexion contracture, Myopathy, Arthritis, Scl... ORPHA:90289
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Micrognathia, Pectus carinatum, Choreoathetosis, Micropenis OMIM:614969
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:612089
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Limb ataxia, Dysmetria, Truncal ataxia ORPHA:276198
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... ORPHA:2907
White-Kernohan Syndrome
Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Hip dysplasia, Metopic synostosis, Hydronep... OMIM:619426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Donohue Syndrome
Skeletal muscle atrophy, Long penis, Large hands, Severe failure to thrive, Long foot OMIM:246200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Skeletal muscle atrophy, Pes planus, Kyphoscoliosis, Atlantoaxial instability, Bladde... OMIM:614557
Witteveen-Kolk Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Male urethral meatus stenosis, Micr... OMIM:613406
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Generalized Pustular Psoriasis
Renal insufficiency, Overweight, Obesity, Pedal edema, Arthritis ORPHA:247353
Becker Muscular Dystrophy
Pes planus, Abnormal urinary color, Skeletal muscle atrophy, Abnormality of the lower limb, Myogl... ORPHA:98895
Xq21 Microdeletion Syndrome
Ataxia, Obesity, Gait ataxia, Upper limb muscle weakness, Ankle clonus, Dysdiadochokinesis, Renal... ORPHA:1435
Dextrocardia
Congenital hip dislocation, Abnormal foot morphology, Abnormal renal morphology, Abnormal rib mor... ORPHA:1666
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Thoracic Outlet Syndrome
Abnormal rib morphology, Paresthesia ORPHA:97330
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypo... ORPHA:899
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Urinary incontinence OMIM:105300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Monosomy 22Q13.3
Renal dysplasia, Sacral dimple, Impaired pain sensation, Vesicoureteral reflux, Obesity, Large ha... ORPHA:48652
Angelman Syndrome
Pes valgus, Ataxia, Obesity, Scoliosis ORPHA:72
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 15
Small hand, Obesity, Ataxia OMIM:614947
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short neck, Micrognathia, Clinodactyly of the 5th finger, Prominent fingertip pads, Joint laxity,... OMIM:612474
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Focal segmental glomerulosclerosis, Myopathy, ... OMIM:616239
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Bdv Syndrome
Micropenis, Obesity, Micrognathia OMIM:619326
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Obesity OMIM:616267
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Chromosome 3Q29 Duplication Syndrome
Pes planus, Obesity OMIM:611936
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Stiff neck, Genu rec... ORPHA:79139
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Flexion contracture, Skeletal muscle hypertrophy, Myopathy, Paresthesia ORPHA:682
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Cog8-Cdg
Skeletal muscle atrophy, Failure to thrive, Ataxia ORPHA:95428
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Short n... OMIM:601803
Peters-Plus Syndrome
Ureteral duplication, Proximal placement of thumb, Short neck, Limited elbow movement, Micrognath... OMIM:261540
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Pes planus, Obesity, Pelvic kidney, Pes valgus, Short palm, Dilatation of renal calices, Brachyda... ORPHA:466943
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Joint laxity, Torticollis, Osteomyelitis, Hypospadias, Ataxia, Overweight, Kyphosis, O... OMIM:619475
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Obesity, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid drop... ORPHA:98907
Dysbetalipoproteinemia
Tendon xanthomatosis, Renal steatosis, Obesity, Gout ORPHA:412
Rabin-Pappas Syndrome
Failure to thrive in infancy, Micrognathia, Obesity, Overgrowth, Tracheomalacia OMIM:620155
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Rickets, Hypercalciuria, Generalized ami... OMIM:227810
Ring Chromosome Y Syndrome
Hypospadias, Obesity, Urogenital sinus anomaly, Perineal hypospadias ORPHA:261529
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Rickets, Renal cyst ORPHA:79303
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Recurrent urinary tract infections, Small for gestational age, Pectus e... OMIM:613658
Kennedy Disease
Skeletal muscle atrophy ORPHA:481
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis ORPHA:803
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... ORPHA:35689
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Renal cyst, Glycosuria... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Abdominal obesity, Osteoporosis, Increased body weight OMIM:615954
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Osteoporosis, Increased bod... ORPHA:79240
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Chorea, Lacticaciduria, Methylmalon... ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Spinal rigidity, Flexion contracture, Calf muscle hypertrophy, Scoliosis... OMIM:253800
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes... ORPHA:98908
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Prominent metopic ridge, Gait ataxia OMIM:103050
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Femoral bowing, Flared lower limb metaphysis, Decreased body weight, Acetabular dys... OMIM:616462
Adnp Syndrome
Joint laxity, Recurrent urinary tract infections, Broad hallux, Sandal gap, Urinary incontinence,... ORPHA:404448
Rett Syndrome
Skeletal muscle atrophy, Failure to thrive, Scoliosis ORPHA:778
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced... ORPHA:667
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Distal amyotrophy, Pes cavus OMIM:614298
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Obesity, Osteoporosis, Reduced bone mineral density ORPHA:2235
Cushing Disease
Increased urinary cortisol level, Osteoporosis, Increased body weight, Pedal edema, Proximal amyo... ORPHA:96253
Angelman Syndrome Due To A Point Mutation
Ataxia, Obesity ORPHA:411511
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness, Pes cavus, Progressive choreoathetosis OMIM:200150
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Micrognathia, Contracture of the distal interpha... ORPHA:83617
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Limited elbow movement, Limited shoulde... ORPHA:39812
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Multicystic kidney dysplasia, Hydromyelia, Muscular dystrophy, Micropenis, Hydr... OMIM:615287
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Recurrent fractures, Osteoporosis, Stage 5 chronic ki... OMIM:222700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Exercise-induced rhabdomyolysis, Small for gestational age, Obesity ORPHA:26793
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Failure to thrive, Short neck OMIM:615802
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Aplasia/Hypoplasia of the maxilla, Unilateral ren... ORPHA:141099
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature ORPHA:85323
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Failure to thrive, Hypospadias OMIM:619272
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Celiac Disease, Susceptibility To, 1
Ataxia, Rickets, Osteoporosis, Weight loss, Failure to thrive OMIM:212750
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Flexion contracture, Ab... ORPHA:2908
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lower limb hypertonia, Obesity, Limb hypertonia OMIM:617296
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy OMIM:616896
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity, Micrognathia OMIM:612469
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormal urine alpha-ketoglutarate concentration, Ataxia ORPHA:31
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria OMIM:268315
Primary Fanconi Renotubular Syndrome
Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Skeletal muscle atrophy ORPHA:156
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Leptin Receptor Deficiency
Obesity OMIM:614963
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Osteoporosis, Increased body weight, Re... ORPHA:264580
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Poliomyelitis
Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Abnormal skeletal muscle morp... ORPHA:2912
Beckwith-Wiedemann Syndrome
Ureteral duplication, Tall stature, Prominent metopic ridge, Diastasis recti, Congenital diaphrag... ORPHA:116
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Renal hypoplasia, Genu valgum, Abdominal obesity, Micropenis OMIM:619321
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Failure to thrive OMIM:617339
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux, Skeletal muscle atrophy, Failure to thrive, Scoliosis OMIM:615895
Tay-Sachs Disease
Skeletal muscle atrophy, Lower limb muscle weakness, Quadriceps muscle atrophy, Limited elbow ext... ORPHA:845
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Charge Syndrome
Facial palsy, Talipes, Abnormal tibia morphology, Hemivertebrae, Vesicoureteral reflux, Bifid fem... ORPHA:138
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Obesity, Pedal edema ORPHA:563
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Narrow foot OMIM:614300
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Sandhoff Disease
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Impaired temperature sensation, Macroglossia OMIM:268800
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Decreased urinary potassium, Rhabdomyolysis, Obesity, Weight lo... ORPHA:79102
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Autoamputation of digits, Pain insensitivity, Ataxia, Osteomyelitis lead... OMIM:256810
Triosephosphate Isomerase Deficiency
Kyphosis, Failure to thrive, Myopathy, Skeletal muscle atrophy OMIM:615512
Joubert Syndrome 8
Ataxia, Obesity OMIM:612291
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired pain sensation, Obesity, Enuresis, Scoliosis, Brachydactyly ORPHA:293987
Charge Syndrome
Hypoplasia of the ulna, Renal agenesis, Down-sloping shoulders, Facial palsy, Micrognathia, Absen... OMIM:214800
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Failure to thrive, Joint stiffness OMIM:615934
Meningioma
Back pain, Ataxia, Facial palsy, Urinary incontinence, Obesity, Upper limb muscle weakness, Lower... ORPHA:2495
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Gl... ORPHA:411629
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Failure to thrive, Mitten de... ORPHA:89842
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Obesity ORPHA:3157
Sézary Syndrome
Skeletal muscle atrophy, Palmoplantar keratoderma ORPHA:3162
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Skeletal muscle atrophy, Somatic sensory dysfunction, Swelling of proximal interph... ORPHA:3260
Adult-Onset Still Disease
Cartilage destruction, Joint swelling, Arthritis ORPHA:829
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Recurrent urinary tract infections, Failure to thrive ORPHA:90045
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hemivertebrae, Femoral bowing, Micropenis, Arachnodactyly, Hypospadias, Ulnar bowing, Humeroradia... OMIM:201750
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Skeletal muscle atrophy, Failure to thrive, Hypoplastic scapulae, Camptodactyly of... OMIM:256040
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Gaisböck Syndrome
Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriuria ORPHA:90041
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Somatic sensory dysfunction, Stiff neck, Facial palsy, Myelitis ORPHA:297
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Ketonuria, Hyperglycinuria, Organic aciduria, Failure to thrive OMIM:210210
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Pes cavus ORPHA:168563
Obesity Due To Congenital Leptin Deficiency
Obesity ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Obesity ORPHA:179494
Pagod Syndrome
Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Congenital diaphragmati... ORPHA:991
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture OMIM:619183
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Rickets OMIM:219900
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Block vertebrae, Renal agenesis, Hypoplasia of facial musculature, ... OMIM:164210
Reactive Arthritis
Recurrent urinary tract infections, Osteomyelitis, Joint stiffness, Cartilage destruction, Weight... ORPHA:29207
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Osteochondrosis ORPHA:2396
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Osteoporosis, Increased body weight, Pedal edema, Weight loss, ... ORPHA:99889
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity ORPHA:69663
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Skeletal muscle atrophy, Ataxia, Urinary incontinence OMIM:146500
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Hypospadias, Ataxia, Ragged-red muscle f... OMIM:252010
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Osteomalacia, Weight loss ORPHA:309031
Leprechaunism
Skeletal muscle atrophy, Long foot, Long penis, Hypercalciuria, Nephrocalcinosis, Large hands, De... ORPHA:508
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Congenital Analbuminemia
Small for gestational age, Obesity, Pedal edema ORPHA:86816
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Rhabdomyosarcoma, Cachexia, Short neck, Pollakisuria ORPHA:647
Sheehan Syndrome
Hyposthenuria, Obesity ORPHA:91355
1P21.3 Microdeletion Syndrome
Obesity, Joint hypermobility, Micrognathia ORPHA:293948
Bloom Syndrome
Recurrent urinary tract infections, Small for gestational age, Micrognathia, Abdominal obesity, N... ORPHA:125
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Pathologic fracture, Moderate albuminuria, Obesity OMIM:614231
Leprosy
Skeletal muscle atrophy, Autoamputation of digits, Impaired temperature sensation, Dysesthesia, D... ORPHA:548
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Patent urachus OMIM:618252
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Osteomyelitis, Weight loss OMIM:614162
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Micropenis, Atax... ORPHA:64
Craniopharyngioma
Obesity, Increased susceptibility to fractures ORPHA:54595
Narcolepsy 7
Obesity OMIM:614250
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Fac... ORPHA:273
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Weight loss, Arthritis, Joint swelling OMIM:619381
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... OMIM:609049
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Obesity ORPHA:70591
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Micrognathia, Microphallus, Absent penis, Micropenis ORPHA:284339
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

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 Hoxc10

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 Hoxc10.

No publications found that use IMPC mice or data for Hoxc10.

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
Hoxc10tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hoxc10tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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