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Gene: Cdk10 MGI:2448549

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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:
cyclin dependent kinase 10
Synonyms:
N/A

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 Cdk10 mutations

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

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

The table below shows human diseases associated to Cdk10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Al Kaissi Syndrome
Pes planus, Sacral dimple, Torticollis, Short stature, Postnatal growth retardation, Small hand, ... OMIM:617694

The table below shows human diseases predicted to be associated to Cdk10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid... OMIM:619598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Short neck, Cardiomegaly, Multiple prenatal fractures, Flexion contract... OMIM:616897
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Renal hypoplasia/aplasia, Abnormal sacrum morphology, L... ORPHA:1988
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubul... ORPHA:228302
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... ORPHA:94068
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit... ORPHA:157
Bronchogenic Cyst
Abnormal peritoneum morphology, Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary... ORPHA:2357
Crome Syndrome
Short stature, Renal tubular epithelial necrosis OMIM:218900
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Joint stiffness, Hy... ORPHA:1860
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ... ORPHA:56304
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... OMIM:156510
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Short stature, Tarsal synostosis, Micrognathia, Flat capital... OMIM:147891
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Achilles tendon contracture, Limb-gir... ORPHA:254361
Epiphyseal Dysplasia, Multiple, 1
Pes planus, Short metacarpal, Severe short stature, Epiphyseal dysplasia, Ovoid vertebral bodies,... OMIM:132400
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... ORPHA:99642
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Short palm, Neonatal death, Patent foramen ovale, Hepatomegaly, A... OMIM:269860
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Renal ... ORPHA:49041
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Hypospadias, Centrally nucleated skeletal muscle fibers, Atelectasis, Glandular... OMIM:300219
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Multicystic kidne... ORPHA:79404
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... ORPHA:536467
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... OMIM:612447
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:253240
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Micrognathia, Morgagni diaphragmatic hernia, Hypoplasia of the thymus, Multiple bladd... OMIM:613177
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... OMIM:271630
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Hypospadias, Rhizomelia, Sandal gap, Patent ductus arteriosus, Recurr... OMIM:607143
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Roifman Syndrome
Hip contracture, Short metacarpal, Hepatomegaly, Short stature, Eosinophilia, Biconvex vertebral ... OMIM:616651
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... OMIM:307800
Asbestos Intoxication
Ground-glass opacification, Atelectasis, Pleural thickening, Mediastinal lymphadenopathy, Cor pul... ORPHA:2302
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio... OMIM:215140
Pelviscapular Dysplasia
Congenital hip dislocation, Short stature, Short femur, Hypoplastic scapulae, Short neck, Hypopla... ORPHA:93333
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra... ORPHA:79345
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... ORPHA:244
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Chronic sinusitis, Bronchiectasis OMIM:615294
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... ORPHA:439822
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Farber Disease
Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulm... ORPHA:333
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Congen... OMIM:166300
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Ethylene Glycol Poisoning
Renal insufficiency, Facial palsy, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Eosinophilia, No... ORPHA:353298
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300554
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Seve... OMIM:231070
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspon... OMIM:601216
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration, Emphysema,... ORPHA:70589
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Micrognathia, Postnatal growt... ORPHA:73230
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Waardenburg Syndrome Type 3
Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atelectasis, Abnormal finger morphology... ORPHA:896
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Patent foramen ovale, Hep... ORPHA:17
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... ORPHA:1159
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300009
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Foot oligodactyly, Scoliosis, Amelia OMIM:601357
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Bilateral renal hypoplasi... ORPHA:508488
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Arthritis, Recurrent lower respiratory tract infections, Anemia OMIM:620321
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Int... ORPHA:70588
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hy... ORPHA:763
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Pes planus, Short femur, Short stature, Talipes, Joint hypermobility, ... OMIM:300990
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Short stature, Osteomalacia, Recurrent fractures, Bone cyst... ORPHA:93160
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Kagami-Ogata Syndrome
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, C... OMIM:608149
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Recurrent fractures, Paten... OMIM:618188
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Talipes equ... OMIM:620306
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Osteopenia, Osteomyelitis, Eosinophi... ORPHA:2314
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Overriding aorta, Ventricular septal ... OMIM:616145
Three M Syndrome 1
Mandibular prognathia, Pes planus, Scapular winging, Short stature, Hypospadias, Short neck, Post... OMIM:273750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hy... OMIM:212720
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Ground-glass o... OMIM:610978
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow... OMIM:608154
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr... OMIM:253220
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short stature, Short femur, Mesoaxial hand polyd... OMIM:277170
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
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t... OMIM:615415
Cohen Syndrome
Pes planus, Short metacarpal, Thoracic scoliosis, Short stature, Lumbar hyperlordosis, Facial hyp... OMIM:216550
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... ORPHA:3320
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomeru... ORPHA:534
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
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Pes planus, Genu recurvatum, Short stature, Talipes... ORPHA:915
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurren... OMIM:241530
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... OMIM:313400
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, S... ORPHA:289176
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary... OMIM:300266
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Ground-glass opacification, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis,... OMIM:620233
22Q11.2 Deletion Syndrome
Micrognathia, Short neck, Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux... ORPHA:567
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platysp... ORPHA:90653
Ciliary Dyskinesia, Primary, 1
Pneumonia, Absent frontal sinuses, Atelectasis, Asplenia, Situs inversus totalis, Bronchiectasis,... OMIM:244400
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypoplasia, Camptodactyly OMIM:246560
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosin, Facial palsy, ... ORPHA:258
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Genu valgum, Growth delay, Micropenis, Hydronephrosis, Jo... OMIM:617798
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Leukocytosis, Hypersensitivity pneumoni... ORPHA:2902
3C Syndrome
Hypoplasia of penis, Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology... ORPHA:7
Marden-Walker Syndrome
Decreased muscle mass, Hypospadias, Arachnodactyly, Dextrocardia, Micrognathia, Postnatal growth ... OMIM:248700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, R... ORPHA:365
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Atrial septal defect, Skeletal muscle atrophy, Torticollis, Pos... ORPHA:251061
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Flex... OMIM:224690
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis ORPHA:922
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hep... OMIM:618278
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
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... ORPHA:1798
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... OMIM:620076
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Respiratory tract infection, Long fingers, Hypoplasia of... OMIM:218000
Maternal Uniparental Disomy Of Chromosome 2
Pes planus, Renal insufficiency, Hypospadias, Miscarriage, Postnatal growth retardation, Preaxial... ORPHA:96179
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger ORPHA:2776
Lymphangioleiomyomatosis
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi... ORPHA:538
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Short stature, Proteinur... ORPHA:1307
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... OMIM:170390
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Hyperphosphaturia, Bowing of the long bones, Elevated circulating aspar... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Rhizomel... OMIM:611209
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... OMIM:264700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Recurrent respiratory infections, Brachydactyly, Distal lower limb amyotro... OMIM:300534
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosi... ORPHA:91500
Dent Disease
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... ORPHA:1652
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Abnorm... ORPHA:192
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst, Myopathy OMIM:109130
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Nephr... OMIM:611590
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the capital fem... ORPHA:1901
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... ORPHA:249
Lowry-Maclean Syndrome
Osteopenia, Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxil... ORPHA:2409
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rac... ORPHA:289157
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Seckel Syndrome 1
Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5th finger, Dislocated radial h... OMIM:210600
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Hypospadias, Tracheomalacia, Mi... OMIM:601390
9Q21.13 Microdeletion Syndrome
Talipes, Craniosynostosis, Postnatal growth retardation, Abnormal heart morphology, Hip dysplasia... ORPHA:531151
Keipert Syndrome
Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ... ORPHA:2662
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... OMIM:274000
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the t... OMIM:264090
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Short stature, Osteomalacia, Bowing of the legs, Hypercalciuria, Nephrolithias... ORPHA:157215
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Congenital malformation of the left heart, Wide penis, Hypoplastic vertebral bodies, ... ORPHA:3455
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Joint hyperflex... ORPHA:776
Zygomycosis
Renal insufficiency, Sinusitis, Pericarditis, Atelectasis, Mediastinal lymphadenopathy, Pneumotho... ORPHA:73263
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Pneumonia, Moderate albuminuri... ORPHA:95455
Sanjad-Sakati Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Short stature, Abnormal dental enamel morp... ORPHA:2323
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... OMIM:277440
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Micrognathia, Postnatal growth retardation, Ulnar bowin... OMIM:619135
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... ORPHA:2636
Digeorge Syndrome
Micrognathia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Short stat... OMIM:188400
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Meier-Gorlin Syndrome 4
Genu recurvatum, Short stature, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Birth ... OMIM:613804
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Talipes equino... ORPHA:85279
Aarskog-Scott Syndrome
Short palm, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Short stature, Joint... OMIM:305400
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Microgna... OMIM:618150
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia OMIM:601809
Van Maldergem Syndrome 2
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... OMIM:615546
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Hypoplasia of the maxilla, Atrial septal defect, Malar flatt... ORPHA:261295
Myhre Syndrome
Abnormal penis morphology, Mandibular prognathia, Brachydactyly, Severe short stature, Hypospadia... ORPHA:2588
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Hypoplasia of the maxilla, Right ... OMIM:614261
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... OMIM:615777
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Stiff neck, Atelectasis, Fulmina... ORPHA:319213
Andersen-Tawil Syndrome
Joint laxity, Abnormality of dental color, Short stature, Micrognathia, Hypoplasia of the maxilla... ORPHA:37553
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... ORPHA:93357
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, ... ORPHA:96334
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebr... OMIM:109120
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Renal phosphate wasting, Hyp... OMIM:193100
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Short stature, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Rena... ORPHA:314679
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemi... ORPHA:89937
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Aminoaciduria, Pulmonary fibrosis, Glyc... OMIM:618913
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Splenom... OMIM:211600
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas... OMIM:134780
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Short stature, Hypospadias, Micrognathia, Aplasia... OMIM:613803
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Osteomyelitis, Atelectasis, Lymphadenitis, Recurrent pneumonia, Sple... OMIM:306400
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion con... ORPHA:2671
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Intrauterine growth retardation, Hepatomeg... ORPHA:1775
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Bowing of the legs, Rickets, Growth delay, Aminoaciduria, Glyco... OMIM:615605
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral musc... OMIM:136760
Ellis Van Creveld Syndrome
Micromelia, Epispadias, Conical incisor, Atrial septal defect, Emphysema, Neonatal short-limb sho... ORPHA:289
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Camptodactyly of finger, Micromelia, Short neck, Osteomalacia, ... ORPHA:2176
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Abn... ORPHA:93262
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Short stature, Proteinuria, Osteomalacia, Recurrent fractures, R... OMIM:613388
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil... ORPHA:245
Mohr Syndrome
Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... OMIM:252100
Mccune-Albright Syndrome
Hyperphosphaturia, Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bone... ORPHA:562
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Long foot OMIM:300676
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Growth delay, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Cohen Syndrome
Finger syndactyly, Short stature, Arachnodactyly, Sandal gap, Micrognathia, Tapered finger, Hypop... ORPHA:193
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Short stature, Ventricular septal defect, Proportionate s... OMIM:277600
Relapsing Polychondritis
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, ... ORPHA:728
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Hypospadias, Diastasis recti, Hypoplasia of the muscul... OMIM:265050
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max... ORPHA:397973
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna... ORPHA:959
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recurrent upper re... ORPHA:51636
Cystinosis
Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Rickets, Renal tubular dysf... ORPHA:213
Meier-Gorlin Syndrome 5
Short stature, Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar apl... OMIM:613805
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... OMIM:182250
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept... OMIM:139210
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Osteoporosis, Rickets, Death in adolescence, Proximal tubulopathy, Death ... OMIM:560000
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem... OMIM:213980
Shprintzen-Goldberg Syndrome
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... ORPHA:2462
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Short stature, Polyuria, Unilateral renal agenesis,... OMIM:617140
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Micropenis, Hypospadias, Tapered fi... OMIM:301040
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... OMIM:620099
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... OMIM:600920
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Short stature, Proteinuria, Ricke... OMIM:616026
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, Broad metacarpals, Short metacarpal, Lumbar hyperlor... OMIM:608328
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Micrognathia, Postnatal growth retardation, Splenomegaly... ORPHA:1655
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Micrognathia, Hypoplasia of the maxilla, Flexion co... OMIM:180849
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Broad hallux, Arachnodactyly, Hypoplasia of the... ORPHA:481152
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyl... ORPHA:1596
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Emphysema, Hepatic steatosis, Joint laxity, Short statu... OMIM:613658
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93950
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Microg... OMIM:263750
Peters-Plus Syndrome
Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypoplasia... OMIM:261540
Wilson Disease
Acute hepatic failure, Osteoarthritis, Pedal edema, Aminoaciduria, Hepatic steatosis, Hemolytic a... OMIM:277900
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia o... OMIM:616367
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Pes planus, Atrial septal defect, Joint laxity, Short stature, Overlapping... OMIM:617402
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Chand Syndrome
Short fifth metatarsal, Atelectasis, Hydroureter, Agenesis of maxillary incisor ORPHA:1401
Al Kaissi Syndrome
Pes planus, Sacral dimple, Torticollis, Short stature, Postnatal growth retardation, Small hand, ... OMIM:617694
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Pes planus, Short stature, Hypoplasia of the maxilla, Carious teeth, P... ORPHA:50814
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Pes planus, Joint laxity, Genu recurvatum, Arachnodactyly, Craniosynostosis, Microgna... OMIM:182212
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... OMIM:227810
Distal Xq28 Microduplication Syndrome
Short stature, Metatarsus adductus, Hypoplasia of the maxilla, Patent ductus arteriosus, Recurren... ORPHA:293939
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Short st... OMIM:309000
Renal Tubular Acidosis Iii
Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcinosis OMIM:267200
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Carious teeth, Abnormal foot morphology, Rickets, Increased su... OMIM:146300
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Mi... OMIM:601812
Hypophosphatemic Bone Disease
Rickets, Short stature, Osteomalacia, Bowing of the legs OMIM:146350
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Short stature, Fifth finger distal phalanx clinodact... OMIM:257850
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... OMIM:241310
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Short stature, Craniosynostosi... ORPHA:794
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Nephrolithiasis, Nephrocalcinosis, Distal renal tub... OMIM:179800
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Ulnar deviation of finger ORPHA:1529
Stickler Syndrome
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form o... ORPHA:828
Ulbright-Hodes Syndrome
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, S... ORPHA:3404
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Bartsocas-Papas Syndrome 1
Micrognathia, Ectopic kidney, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypopla... OMIM:263650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micrognathia, Postnatal ... ORPHA:83617
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... ORPHA:178303
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Hepatoblast... OMIM:269150
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Short stature, Osteomalacia, Hypocitraturia, Rickets, Nephro... ORPHA:18
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... OMIM:619142
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Macrovesicular hepati... OMIM:619127
Floating-Harbor Syndrome
Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atri... ORPHA:2044
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal ... ORPHA:79113
Cystinosis, Nephropathic
Skeletal muscle atrophy, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecul... OMIM:219800
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosynostosis ORPHA:207
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of finger, Aplastic clavicl... ORPHA:2554
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Tapered finger, Hypoplasia of the maxilla, Short neck, Increased femor... OMIM:609460
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,... OMIM:192350
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Pes planus OMIM:618302
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Primary Fanconi Renotubular Syndrome
Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Gorlin-Chaudhry-Moss Syndrome
Short stature, Hypoplasia of the maxilla, Abnormal foot morphology, Patent ductus arteriosus, Abn... ORPHA:2095
Acrofacial Dysostosis, Cincinnati Type
Short stature, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Femoral bowing,... OMIM:616462
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Atrial septal de... OMIM:268300
Nablus Mask-Like Facial Syndrome
Sandal gap, Short hallux, Tapered finger, Hypoplasia of the maxilla, Short neck, Craniosynostosis... OMIM:608156
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro... OMIM:268315
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, Os... OMIM:212750
Cerebrocostomandibular Syndrome
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse... OMIM:117650
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia OMIM:620157
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Postnatal... ORPHA:263508
Autosomal Dominant Cutis Laxa
Osteopenia, Pes planus, Joint laxity, Genu recurvatum, Unilateral renal agenesis, Postnatal growt... ORPHA:90348
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Atrial septal defect, Emphyse... ORPHA:500150
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Mandibular prognathia, Abnormality of the cervical spine, Urete... ORPHA:1299
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect,... OMIM:309520
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn... OMIM:123500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, 2-3 ... OMIM:106260
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Tapered finger OMIM:618367
Frontorhiny
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... ORPHA:391474
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Hypospadias, Abnormal heart morphology OMIM:601499
Axenfeld-Rieger Syndrome
Growth delay, Hypoplasia of the maxilla, Hypospadias ORPHA:782
Marshall Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinus... ORPHA:560
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Severe postnatal growth retardation, Hypoplasia of the maxilla, R... ORPHA:2399
Treacher-Collins Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:861
Rapp-Hodgkin Syndrome
Syndactyly, Short stature, Hypospadias, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneo... OMIM:129400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ... ORPHA:1101
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia of the maxilla, Supernu... OMIM:211380
Cleft Velum
Hypoplasia of the maxilla, Aspiration pneumonia ORPHA:99772
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Scoliosis OMIM:105830
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis OMIM:615108
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Ventricular septal defect, Ectopic... OMIM:164210
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis OMIM:615109
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Toe syndactyly, Hypoplastic sacrum, R... OMIM:604292
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Lympho... OMIM:158350
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Short stature, Rickets OMIM:612089
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Proximal placement of thumb, Micrognathia, Postnatal growth retardat... OMIM:113620
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Osteomalacia, Cardiomegaly, ... ORPHA:51608
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic... OMIM:101400
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla OMIM:167730
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Growth delay, Renal tubular d... ORPHA:411629
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger ORPHA:228396
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Joint hyperflexib... ORPHA:96129
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Recurrent respiratory infections, Duplicated collecting system, Hydroureter, Toe... OMIM:129900
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture... OMIM:259050
Hypercholanemia, Familial 1
Rickets OMIM:607748
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Rickets OMIM:219900
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia, Exocrine pancreatic in... ORPHA:309031
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Pneumonia, Bronchitis, Follicular hyperplas... OMIM:619381
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Postaxial hand polydactyl... OMIM:610829
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth d... ORPHA:920
Craniosynostosis And Dental Anomalies
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Short stature, Sag... OMIM:614188
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Pelvic girdle muscle atrophy ORPHA:3044
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Nephrotic syndrome, Sinusitis ORPHA:238468
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplas... ORPHA:306542
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand OMIM:122880
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Hypospadias OMIM:180500

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 Cdk10

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 Cdk10.

No publications found that use IMPC mice or data for Cdk10.

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
Cdk10tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cdk10tm82740(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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