Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12
Synonyms:
2300003F07Rik,  4833409F13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
head bobbing Serpinb12tm1b(KOMP)Wtsi HOM Early adult 3.50×10-07
short tibia Serpinb12tm1b(KOMP)Wtsi HOM Early adult 2.47×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 3)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 3)
Embryo N/A homozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 3)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 3)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 3)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Serpinb12 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 Serpinb12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Tibial Hemimelia
Absent tibia OMIM:275220
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Smith-Magenis syndrome
Brachydactyly, Stereotypy DECIPHER:8
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spa... ORPHA:251282
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Small hand, Spastic tetraplegia, Stereotypy, Short foot, Hypertonia OMIM:615282
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Hand clenc... ORPHA:240103
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Clinodactyly of the 5th finger, Recurrent hand flapping ORPHA:100973
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Incoordination, Frequent falls ORPHA:79136
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Baker-Gordon Syndrome
Involuntary movements, Abnormal foot morphology, Choreoathetosis, Stereotypy, Ataxia, Hyperkineti... OMIM:618218
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Stereotypy OMIM:618709
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Micrognathia, Hyperkinetic movements ORPHA:397933
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... OMIM:251230
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Jerky head movements, Frequent falls, Dysmetria, Chorea, Abnor... ORPHA:157941
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia OMIM:619150
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Stereotypy OMIM:617393
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Arachnodactyly, Stereotypy, Tremor, Ataxia, Pes cavus, Syndactyly, Hypertonia, Gait at... OMIM:619092
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Progressive gait ataxia, Progressive cerebellar ataxia, Pes cavus, Trunc... ORPHA:247815
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Chromosome 3Q29 Deletion Syndrome
Tapered finger, Long fingers, Stereotypy, Clinodactyly of the 5th finger, Gait ataxia OMIM:609425
Huntington Disease-Like 3
Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, Extrapyramidal dys... ORPHA:157946
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Mental Retardation, Autosomal Recessive 41
Clinodactyly of the 5th finger, Stereotypy OMIM:615637
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Small hand, Tongue thrusting, Tremor, Short foot, Stereoty... ORPHA:3095
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Hyperprolinemia, Type I
Ataxia, Stereotypy OMIM:239500
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Jerky head movements, Choreoathetosis OMIM:245348
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Talipes equinovarus, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia OMIM:618917
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movements, Abnorma... ORPHA:382
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... OMIM:609945
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Spastic dysarthria, Pes planus, Genu recurvatum, Stereotypy, Acetabular dysplasia,... ORPHA:280763
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Stereotypy OMIM:619470
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing OMIM:618760
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Stereotypy OMIM:612069
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Weismann-Netter Syndrome
Lateral femoral bowing, Fibular bowing, Anterior tibial bowing, Squared iliac bones OMIM:112350
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Myoclonus, Rigidity, Stereotypy OMIM:600795
Intellectual Developmental Disorder, Autosomal Recessive 39
Stereotypy OMIM:615541
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal foot morphology, Micrognathia, Cerebral palsy, Stereotypy, Repetitive compulsive behavio... ORPHA:352490
4Q21 Microdeletion Syndrome
Toe syndactyly, Small hand, Stereotypy, Tremor, Short foot, Short palm, Micromelia ORPHA:238750
Pontocerebellar Hypoplasia, Type 11
Talipes equinovarus, Poor coordination, Stereotypy, Ataxia, Spasticity, Limb ataxia OMIM:617695
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Stereotypy OMIM:613670
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Hyperkinetic movements OMIM:619317
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Foxg1 Syndrome
Choreoathetosis, Myoclonus, Stereotypy, Stereotypical hand wringing, Hyperkinetic movements, Spas... ORPHA:561854
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Talipes equinovarus, Tapered finger, Stereotypy, Pes cavus, Hip dysplasia, Spasticity, Gait ataxi... OMIM:617807
Autosomal Recessive Non-Syndromic Intellectual Disability
Chorea, Spasticity, Stereotypy ORPHA:88616
Shukla-Vernon Syndrome
Stereotypy, Long fingers, Tapered finger OMIM:301029
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... OMIM:617925
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... OMIM:263520
Behavioral Variant Of Frontotemporal Dementia
Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Fasciculations, Ste... ORPHA:275864
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Spasticity, Stereotypy OMIM:618718
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Pick Disease Of Brain
Stereotypy OMIM:172700
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Snijders Blok-Campeau Syndrome
Abnormal foot morphology, Speech apraxia, Stereotypy OMIM:618205
Fragile X Syndrome
Abnormal head movements, Pes planus OMIM:300624
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
2Q23.1 Microdeletion Syndrome
Stereotypy, Sandal gap, Ataxia, Hip dysplasia, Short palm, Clinodactyly of the 5th finger ORPHA:228402
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal fingertip morphology, Speech apraxia, Stereotypy ORPHA:529965
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Mental Retardation, Autosomal Dominant 7
Hallux valgus, Micrognathia, Stereotypy, Ataxia, Incoordination, Stereotypical hand wringing OMIM:614104
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, 2-3 toe syndactyly, Adducted thumb, Scissor gait, Dysmetria, Spastic gait, Proxima... OMIM:619121
Christianson Syndrome
Gait ataxia, Truncal ataxia, Adducted thumb, Stereotypy ORPHA:85278
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy OMIM:618906
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Stereotypy, Tremor, Hip dysplasia, Hyperkinetic movements ORPHA:457240
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Micrognathia, Cerebral palsy, Sandal gap, Stereotypy, Hypertonia, Joint contr... OMIM:618914
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Coffin-Siris Syndrome 6
Micrognathia, Stereotypy, Tics, Clinodactyly, Brachydactyly OMIM:617808
3P25.3 Microdeletion Syndrome
Micrognathia, Postaxial polydactyly, Tapered finger, Congenital pseudoarthrosis of the clavicle, ... ORPHA:435638
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Intellectual Developmental Disorder, Autosomal Dominant 34
2-3 toe syndactyly, Short foot, Stereotypy OMIM:616351
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Stereotypy ORPHA:228384
Jeavons Syndrome
Abnormal head movements, Limb myoclonus ORPHA:139431
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... ORPHA:85165
Lamb-Shaffer Syndrome
Micrognathia, Stereotypy, Ataxia, Hip dysplasia, Upper motor neuron dysfunction ORPHA:530983
48,Xxyy Syndrome
Radioulnar synostosis, Talipes, Pes planus, Stereotypy, Tremor, Ataxia, Hip dysplasia, Clinodacty... ORPHA:10
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Poor fine motor coordination, ... ORPHA:79264
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity ORPHA:208447
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... ORPHA:958
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Stereotypy, Repetitive compulsiv... OMIM:300260
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy OMIM:617044
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Stereotypy DECIPHER:45
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Talipes equinovarus, Stereotypy, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3306
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
2-3 toe syndactyly, Micrognathia, Tapered finger, Partial absence of thumb, Pes planus, Stereotyp... ORPHA:476126
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Choreoathetosis, Hand clenching, Tongue thrusting, Stereotypy, Ata... OMIM:619580
2Q37 Microdeletion Syndrome
Toe syndactyly, Small hand, Finger syndactyly, Stereotypy, Short metacarpal, Short foot, Short pa... ORPHA:1001
Cri-Du-Chat Syndrome
Metatarsus adductus, Short metatarsal, Pes planus, Stereotypy, Short metacarpal, Syndactyly, Hype... OMIM:123450
Alazami Syndrome
Stereotypical hand wringing, Slender long bone, Stereotypy ORPHA:319671
Macrocephaly-Developmental Delay Syndrome
Clinodactyly of the 5th finger, Microretrognathia, Stereotypy ORPHA:397612
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... ORPHA:198
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Micrognathia, Pes planus, Arachnodactyly, Stereotypy, Ataxia, Hypertonia, Recurrent hand flapping... OMIM:300986
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... OMIM:114290
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy, Tapered finger OMIM:618825
Smith-Magenis Syndrome
Brachydactyly, Pes planus, Short palm, Stereotypy OMIM:182290
Ogden Syndrome
Torticollis, Abnormal head movements, Hypertonia, Broad hallux, Microretrognathia ORPHA:276432
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Chorea, Spasticity, Stereotypy ORPHA:178469
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... ORPHA:3144
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Stereotypy ORPHA:411986
Developmental And Epileptic Encephalopathy 2
Tapered finger, Myoclonus, Small hand, Stereotypy, Short foot OMIM:300672
Blepharophimosis-Impaired Intellectual Development Syndrome
Talipes equinovarus, Tapered finger, Pes planus, Stereotypy, Hip dysplasia, Short distal phalanx ... OMIM:619293
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Metatarsus adductus, Micrognathia, Torticollis, Small hand, Spastic ataxia, Genu valgum, Stereoty... ORPHA:300570
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... ORPHA:140
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... OMIM:200980
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Chromosome 5P13 Duplication Syndrome
Large hands, Long foot, Long fingers, Stereotypy OMIM:613174
Megalocornea-Intellectual Disability Syndrome
Micrognathia, Genu varum, Tapered finger, Stereotypy, Ataxia, Metatarsus valgus ORPHA:2479
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Stereotypy, Short phalanx of finger, Micrognathia, Opist... ORPHA:508533
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Kohlschutter-Tonz Syndrome-Like
2-3 toe syndactyly, Upper limb spasticity, Myoclonus, Small hand, Lower limb spasticity, Sandal g... OMIM:619229
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Stereotypy ORPHA:313892
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
2-3 toe syndactyly, Choreoathetosis, Chorea, Pes valgus, Stereotypy, Repetitive compulsive behavi... ORPHA:522077
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Hip dislocation, Ataxia, Stereotypy OMIM:619428
Rett Syndrome, Congenital Variant
Athetosis, Talipes equinovarus, Chorea, Tongue thrusting, Pes planus, Stereotypy, Apraxia, Spasti... OMIM:613454
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Stereotypy ORPHA:391307
Childhood Absence Epilepsy
Jerky head movements, Punding, Limb myoclonus ORPHA:64280
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy OMIM:618504
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Stereotypy ORPHA:500159
Radio-Tartaglia Syndrome
Micrognathia, Tapered finger, Pes planus, Stereotypy, Tremor, Ataxia, Pes cavus, Brachydactyly OMIM:619312
Pitt-Hopkins-Like Syndrome 1
Ataxia, Spasticity, Stereotypy OMIM:610042
Ritscher-Schinzel Syndrome 4
Athetosis, Tapered finger, Chorea, Limited knee extension, Stereotypy, Hip dislocation, Ataxia, H... OMIM:619435
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... OMIM:276820
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Stereotypy ORPHA:927
Hydrolethalus Syndrome 1
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... OMIM:236680
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Micrognathia, Cataplexy, Fractures of the long bones, Congenital hip disl... ORPHA:496641
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Stereotypy, Stereotypical body rocking, Ataxia, Recurrent hand flapping, S... OMIM:300912
Potocki-Lupski Syndrome
Micrognathia, Stereotypy OMIM:610883
Proximal 16P11.2 Microdeletion Syndrome
Micrognathia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Hand polydactyly ORPHA:261197
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonus, Cortical myoclonus, Stereotypy, Ataxia, Spasticity ORPHA:168491
Sandifer Syndrome
Torticollis, Abnormal head movements ORPHA:71272
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Rett Syndrome
Limb apraxia, Stereotypical hand wringing, Bradykinesia, Stereotypy ORPHA:778
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Pes planus, Stereotypy, Hand polydactyly, Clinodactyly of the 5th f... ORPHA:819
Helsmoortel-Van Der Aa Syndrome
Small hand, Stereotypy OMIM:615873
Congenital Disorder Of Glycosylation, Type Iia
Proximal placement of thumb, Pes planus, Stereotypy, Hypertonia, Slender long bone, Coxa valga OMIM:212066
Kinsship Syndrome
Micrognathia, Polydactyly, Myoclonus, Fibular hypoplasia, Pes planus, Dislocated radial head, Ste... OMIM:619297
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Stereotypy ORPHA:98784
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Spasticity, Stereotypy OMIM:300486
22Q11.2 Duplication Syndrome
Micrognathia, Stereotypy ORPHA:1727
Phelan-Mcdermid Syndrome
2-3 toe syndactyly, Micrognathia, Large hands, Tongue thrusting, Stereotypy, Clinodactyly of the ... OMIM:606232
Cerebral Creatine Deficiency Syndrome 1
Poor hand-eye coordination, Pes cavus, Spasticity, Stereotypy OMIM:300352
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent hand flapping, Pes planus, Stereotypy ORPHA:449291
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Micrognathia, Broad thumb, Broad phalanx, Pes planus, Short 5th finger, Stere... ORPHA:508498
Niemann-Pick Disease, Type C2
Stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
Cystinosis
Abnormal pyramidal sign, Stereotypy ORPHA:213
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Bainbridge-Ropers Syndrome
Micrognathia, Hand clenching, Arachnodactyly, Pes planus, Stereotypy, Contracture of the proximal... OMIM:615485
Kleefstra Syndrome 1
Brachydactyly, Talipes equinovarus, Stereotypy OMIM:610253
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Talipes equinovarus, Tapered finger, Pes planus, Genu valgum, Stereotypy, Hip dislocation, Hip dy... OMIM:301066
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Stereotypy, Ataxia, Congenital hip dislocation, Contracture of the proximal interphalangeal joint... ORPHA:457279
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Radial... OMIM:218330
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... OMIM:211910
Prader-Willi Syndrome Due To Translocation
Micrognathia, Small hand, Pes planus, Stereotypy, Short foot, Clinodactyly of the 4th finger, Bra... ORPHA:177907
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Knee flexion contracture, 4-5 finger syndactyly, Stereotypy, Hypertoni... ORPHA:468631
Arboleda-Tham Syndrome
Genu varum, Lower limb asymmetry, Hammertoe, Pes planus, Sandal gap, Genu valgum, Stereotypy, Dev... OMIM:616268
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Hypertonia, Spasticity, Stereotypy OMIM:615802
Orofaciodigital Syndrome Type 4
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... ORPHA:2753
Ogden Syndrome
Hypertonia, Microretrognathia, Broad hallux, Stereotypy OMIM:300855
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Metatarsus adductus, Micrognathia, Osteopathia striata, Stereotypy, Repetitive compulsive behavio... ORPHA:513456
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Spasticity, Stereotypy ORPHA:457351
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Stereotypy OMIM:619103
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Talipes, Tapered finger, Small hand, Stereotypy, Spastic tetraparesis, Contra... OMIM:301044
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
2-3 toe syndactyly, Tapered finger, Stereotypy, Tibial torsion, Overlapping toe OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Tapered finger, Poor coordination, Small hand, Stereotypy, Short foot, Brachydactyl... OMIM:309590
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Osteopathia stria... OMIM:300373
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Clinodactyly of the 5th finger, Pes planus, Overlapping toe, Stereotypy OMIM:616682
Wiedemann-Steiner Syndrome
Tapered finger, Rhizomelia, Stereotypy, Aplasia/Hypoplasia of the ribs, Clinodactyly of the 5th f... ORPHA:319182
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Structural foot deformity, Toe syndactyly, Polydactyly, Arachnodactyly, Acromesome... ORPHA:464306
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, Upper limb undergrowth, Micrognathia, Slender long bone ORPHA:369837
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Tapered finger, Stereotypy, Short foot, Short toe ORPHA:464311
Kleefstra Syndrome
Talipes equinovarus, Stereotypy ORPHA:261494
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Long fingers, Dislocated radial head, Congenital hip dislocation, Stereotypy, Clino... OMIM:619512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Isometric tremor, Head titubation, Talipes equinovarus, Cerebral palsy, Torticollis, Spas... OMIM:619475
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hypertonia ORPHA:447997
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Excessive femoral anteversion, Micrognathia, Stereotypy OMIM:619005
Charge Syndrome
Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Absent radius, Down-sloping shoulders,... OMIM:214800
Hypotonia, Ataxia, And Delayed Development Syndrome
Tapered finger, Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia OMIM:617330
7Q11.23 Microduplication Syndrome
Micrognathia, Dysmetria, Long fingers, Pes planus, Stereotypy ORPHA:96121
Transketolase Deficiency
Stereotypy ORPHA:488618
White-Sutton Syndrome
Incoordination, Stereotypy ORPHA:468678
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Stereotypy ORPHA:217253
Wolf-Hirschhorn Syndrome
Metatarsus adductus, Micrognathia, Talipes equinovarus, Split hand, Preaxial hand polydactyly, Hi... OMIM:194190
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Micrognathia, Polydactyly, Radial deviation of thum... OMIM:180849
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Clonus, Abnormality of epiphysis morphology, Abnormality of the metaphysis, Genu va... ORPHA:534
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Tapered finger, Broad toe, Exaggerated startle response, Short 5th finger, Stereoty... OMIM:619522
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Pes planus, Stereotypy OMIM:619575
1P36 Deletion Syndrome
Lower limb asymmetry, Stereotypy, Foot polydactyly, 11 pairs of ribs, Short foot, Hip dysplasia, ... ORPHA:1606
Lowe Oculocerebrorenal Syndrome
Stereotypy, Genu valgum, Hip dislocation, Camptodactyly of finger, Finger swelling OMIM:309000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Polydactyly, Adducted thumb, Avascular necrosis of the capital femoral epiphysis, B... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Polydactyly, Adducted thumb, Avascular necrosis of the capital femoral epiphysis, B... ORPHA:353277
Coffin-Siris Syndrome 12
Micrognathia, Slender finger, Stereotypy, Hip subluxation, Short thumb, Broad thumb, Cutaneous sy... OMIM:619325
Primrose Syndrome
Metatarsus adductus, Knee flexion contracture, Genu valgum, Narrow iliac wing, Stereotypy, Pes ca... OMIM:259050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Avascular necrosis of the capital femoral epiphysis, Broad distal phalanx of finger, Stereotypy, ... ORPHA:353281
Mucopolysaccharidosis Type 2
Hip dysplasia, Stereotypy ORPHA:580
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Adducted thumb, Pes planus, Arachnodactyly, Genu valgum, Stereotypy, Syndactyly, L... ORPHA:261537
Mowat-Wilson Syndrome
Hallux valgus, Adducted thumb, Tapered finger, Pes planus, Genu valgum, Stereotypy, Ataxia, Synda... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Adducted thumb, Pes planus, Arachnodactyly, Genu valgum, Stereotypy, Syndactyly, L... ORPHA:261552
Norrie Disease
Clonus, Hypertonia, Stereotypy ORPHA:649

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 Serpinb12

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 Serpinb12.

No publications found that use IMPC mice or data for Serpinb12.

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MGI Allele Allele Type Produced
Serpinb12tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Serpinb12tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Serpinb12tm41561(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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