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Gene: Chst14 MGI:1919386

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Gene Summary

Name:
carbohydrate sulfotransferase 14
Synonyms:
D4ST-1,  D4st1,  2600016L03Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Chst14em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Chst14em1(IMPC)Tcp HET Early adult 1.30×10-05
preweaning lethality, incomplete penetrance Chst14em1(IMPC)Tcp HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Eye Morphology

Images Ophthalmoscopy

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Histopathology

Images

1 Images

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Human diseases caused by Chst14 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 Chst14 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, High palate, Nephrolithiasis, Narrow mouth, Tapered finger, Func... ORPHA:2953
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Adducted thumb, High palate, Narrow mouth, Nephrotic syndrome, Arachnod... OMIM:601776

The table below shows human diseases predicted to be associated to Chst14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Pyle Disease
Genu valgum, Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypo... OMIM:265900
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... ORPHA:2972
Eiken Syndrome
Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short middle phalanx of the 5th finger, Abnormal epiphysis morphology,... ORPHA:63442
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Odontochondrodysplasia 1
Nephronophthisis, Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Cone-shaped ep... OMIM:184260
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Hypogonadism, Cone-shaped epiphysis, Coxa valga, Gen... ORPHA:950
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Multiple non-erupting secondary teeth, R... OMIM:620277
48,Xxyy Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulder morphology, Broad ja... ORPHA:10
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Hepatomegaly, Thick lower lip vermilion, Short philtrum, Dental crowding, ... OMIM:618342
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High... ORPHA:2863
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var... OMIM:201000
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eruption ... ORPHA:137834
Aredyld Syndrome
Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph... ORPHA:1133
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Flared metaphy... OMIM:612350
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi... ORPHA:166272
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Open bite, High palate, Narrow mouth, Spina bifida, Camptod... ORPHA:1327
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve... OMIM:618506
Catifa Syndrome
Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly, Cleft palate, Lo... OMIM:618761
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Second metatarsal posteriorly placed, Delayed eruption... OMIM:214150
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Splenomegal... OMIM:616354
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Broad thu... OMIM:113000
Cleidocranial Dysplasia
Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormali... ORPHA:1452
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Delayed eruption of teeth, Hypoplasia of penis, Nephrolithiasis, Hypodontia, Decreas... ORPHA:1816
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Genu valgum, Solitary median maxillary central incisor, Hammertoe, Cl... ORPHA:2712
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Short finger, Dental malocclusion, Dela... ORPHA:2980
Brachydactyly, Type E2
Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly OMIM:613382
Lowry-Maclean Syndrome
Abnormal heart morphology, Cleft palate, Delayed eruption of teeth OMIM:600252
48,Xxxy Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Hypoplasia of pen... ORPHA:96263
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Codas Syndrome
Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Abno... ORPHA:1458
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Enamel hypoplasia, Obesity, Brachy... OMIM:612463
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve... OMIM:601957
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, High palate, Sh... OMIM:614607
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t... ORPHA:420561
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long fingers, Long toe OMIM:619489
Char Syndrome
Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger... ORPHA:46627
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Craniofacial hyp... ORPHA:2484
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Delayed eru... OMIM:257850
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Narrow mouth, High palate, Bo... OMIM:613849
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Frontometaphyseal Dysplasia 1
Dislocated radial head, Arachnodactyly, Increased density of long bone diaphyses, Mitral valve pr... OMIM:305620
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi... ORPHA:952
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Hypogonadism, Long philtr... ORPHA:96170
49,Xxxxy Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Hypoplasia of penis, Delayed eruption of tee... ORPHA:96264
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Microdontia, Tooth agenesis, Micrognathia, Short ... ORPHA:633
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Lateral femoral bowing, Squared iliac bones, Delayed erup... OMIM:112350
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral triphalangeal thumbs, Micrognat... OMIM:619356
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Widely spaced teeth, Thick lower lip vermilion, Delayed eruption of teeth, Hyperextensibility of ... OMIM:619797
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe... OMIM:619736
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Short metatarsal, Delayed eruption of teeth, Hydrocephalus, Cone-shape... OMIM:101800
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Fai... ORPHA:2107
Coffin-Lowry Syndrome
Everted lower lip vermilion, Short metacarpal, Abnormal mitral valve morphology, Wide mouth, Shor... ORPHA:192
Aarskog-Scott Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Ab... ORPHA:915
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Penoscrotal transp... OMIM:619148
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, Femoral bowing, Tibia... OMIM:277440
Ellis Van Creveld Syndrome
Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Hypospadias, Abno... ORPHA:289
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv... OMIM:200990
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body weight, Congenital hip dislocation, Macroglossia, Incre... OMIM:614450
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Ureteral stenosis, Short humer... OMIM:309350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Fibular bowing, Generalized aminoaciduria, Delayed eruption of teeth, Delayed epiphyseal ossifica... OMIM:264700
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Trichorhinophalangeal Syndrome, Type I
Narrow palate, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the ... OMIM:190350
Pycnodysostosis
Hypoplastic iliac wing, Mesomelia, Delayed eruption of primary teeth, Short finger, Rhizomelia, A... ORPHA:763
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Ellis-Van Creveld Syndrome
Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic... OMIM:225500
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Emanuel Syndrome
Chronic oral candidiasis, Unilateral renal agenesis, Broad jaw, Hydrocephalus, Dental crowding, T... OMIM:609029
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Rhizomelia, Hyp... OMIM:166250
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short long bone, Splenomegaly, Cystic renal dysplasia, Short finger, Hydrocephalus, ... OMIM:269860
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Ectopic kidney, Hypoplastic iliac wing, Narrow palate, Oligodontia, Camptodactyly, ... OMIM:235510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Hypoplastic pelvis, Hypoplas... OMIM:616300
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Short... ORPHA:949
Pseudohypoparathyroidism, Type Ia
Short finger, Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed er... OMIM:103580
Cleidocranial Dysplasia 2
Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossif... OMIM:620099
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Coffin-Siris Syndrome 3
High palate, Abnormal heart morphology, Wide mouth, Cleft palate, Thick vermilion border, Short d... OMIM:614608
Three M Syndrome 2
Delayed eruption of teeth, Slender long bone, High palate, Prominent calcaneus, Clinodactyly, Thi... OMIM:612921
Sulfite Oxidase Deficiency, Isolated
Decreased urinary sulfate, Delayed eruption of teeth, Eczematoid dermatitis, Sulfocysteinuria, In... OMIM:272300
Craniometadiaphyseal Dysplasia
Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, High palate, Microdontia,... OMIM:269300
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metacarpal cortices, Broad metatarsal, Mitral valve prolapse, Osteolysis involving tarsal bo... OMIM:259600
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,... ORPHA:181
Camurati-Engelmann Disease
Abnormal femur morphology, Cachexia, Splenomegaly, Hypogonadism, Craniofacial osteosclerosis, Cox... ORPHA:1328
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Delayed eruption of teeth, Failure to thrive, Micrognathia, Clino... ORPHA:73272
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Denta... OMIM:268310
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hypo... OMIM:612651
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Clinodactyly of the 5th finger, Dental crowding, Eruption failure, 2-3 toe ... ORPHA:476126
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
Momo Syndrome
Large for gestational age, Thick lower lip vermilion, Delayed eruption of teeth, Femoral bowing, ... ORPHA:2563
Tetrasomy 12P
Delayed eruption of teeth, Abnormal soft palate morphology, Cachexia, Everted lower lip vermilion... ORPHA:884
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed eruption of teet... OMIM:612462
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Abnormality of dental eruption, High, narrow palate, Clinodactyly of the 5th finger... ORPHA:96092
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Short palm, Failure of erupti... ORPHA:3238
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Thick lower lip vermilion, Gliosis, Vesicoureteral reflux, Abnormality... ORPHA:261652
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Generalized aminoaciduria, Delayed eruption of teeth, Delayed epiphyseal ossificati... ORPHA:289157
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Micrognathia, Natal tooth, Hepatosp... OMIM:614592
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, High palate, Forearm undergrowth, Micr... ORPHA:314795
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum, Tapered finger OMIM:618825
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of the phalang... OMIM:619269
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... ORPHA:93356
Kleefstra Syndrome 1
Hypospadias, Talipes equinovarus, Mandibular prognathia, Everted lower lip vermilion, Persistence... OMIM:610253
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Supernumerary tooth, Metaphyseal striations, Delayed eruption of teeth, M... ORPHA:2909
Johanson-Blizzard Syndrome
Dextrocardia, Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Oligodontia, Abnormali... ORPHA:2315
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, N... OMIM:609638
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... OMIM:614753
4H Leukodystrophy
Hypodontia, Hypogonadotropic hypogonadism, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Apert Syndrome
Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Hydrocephalus, Postaxial hand polydactyly, C... OMIM:101200
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Spina bifida occulta, Delayed ... ORPHA:2780
Dysosteosclerosis
Diaphyseal undertubulation, Abnormal metaphyseal trabeculation, Delayed eruption of teeth, Absent... OMIM:224300
Kabuki Syndrome 2
Atrioventricular canal defect, Dental malocclusion, Short 5th finger, Prominent fingertip pads, H... OMIM:300867
Smith-Magenis Syndrome
Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Abnormality of the ureter,... ORPHA:819
Craniometaphyseal Dysplasia, Autosomal Recessive
Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal femur, Facial... OMIM:218400
Robinow Syndrome
Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, Pulmonic stenosi... ORPHA:97360
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxill... OMIM:616367
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Diaphyseal sclerosis, Hydrocephalus, Mandibular prognathia, Persistence of primary t... OMIM:259710
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hypoplasia of the premaxilla, Long philt... ORPHA:1106
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of the distal phalan... OMIM:265800
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Widely spaced teeth, Sandal gap, Delayed eruption of teeth, Yellow-brown... OMIM:619229
Raine Syndrome
Hydroureter, Hydrocephalus, Gingival overgrowth, Mandibular prognathia, High palate, Narrow mouth... OMIM:259775
Kleefstra Syndrome
Hypoplasia of penis, Everted lower lip vermilion, Bicuspid aortic valve, Advanced eruption of tee... ORPHA:261494
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,... OMIM:210720
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hydrocep... OMIM:309900
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Arachnodactyly, Paranasal sinus hypoplasia, Bifid uv... OMIM:300373
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, Muscular ventricular septal defect, High, narrow palat... OMIM:117550
Lead Poisoning
Delayed eruption of teeth, Decreased male libido, Skin rash, Infertility, Oligozoospermia, Reduce... ORPHA:330015
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, Chronic mucocutaneous candidiasis, High palate, Atopic dermatitis, Persisten... OMIM:619752
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Obesity, Large ... OMIM:157980
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Genu valgum, Fibular bowing, Renal phosphate wasting, Cupped metaphyses... OMIM:307800
Gapo Syndrome
Abnormal metaphysis morphology, Abnormal palate morphology, Delayed eruption of teeth, Mandibular... ORPHA:2067
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Multipl... OMIM:113300
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hypopla... OMIM:618727
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardio... ORPHA:2348
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s... ORPHA:37553
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Premature ovarian insufficiency, Pate... ORPHA:221008
Osteoglosphonic Dysplasia
Rhizomelia, Tooth agenesis, Multiple unerupted teeth, Micrognathia, Brachydactyly, Failure to thr... ORPHA:2645
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, ... OMIM:615873
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Talipes equinovarus, Finger syndactyly, Broad alveolar ridges, Exagge... ORPHA:2215
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e... ORPHA:2050
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal de... ORPHA:1782
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,... ORPHA:2063
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Dermatitis Herpetiformis
Delayed eruption of teeth, Eczematoid dermatitis, Dental enamel pits, Erosion of oral mucosa, Pru... ORPHA:1656
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Cervical myelopathy, Genu valgum, Delayed eruption of teeth, Hydrocephalus, Hypopla... OMIM:253200
Genitopatellar Syndrome
Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short palm, Micrognathia, Hydron... ORPHA:85201
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Marbach-Rustad Progeroid Syndrome
Femur fracture, Ventricular septal hypertrophy, Short clavicles, Eruption failure, Narrow mouth, ... OMIM:619322
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Short Syndrome
Radial deviation of finger, Delayed eruption of teeth, Slender long bone, Enlarged epiphyses, Dow... OMIM:269880
Chst3-Related Skeletal Dysplasia
Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Delayed eruption of teeth, Short m... ORPHA:263463
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon... OMIM:180700
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Atrioventricular canal defect, Hypospadias, Hydrocephalus, Abn... ORPHA:2409
Neuronal Intestinal Pseudoobstruction
Natal tooth, Abnormal cardiac septum morphology ORPHA:99811
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, Long penis, Mandibular prognathia, High palate, Small for gestational... OMIM:262190
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Oligodontia, Natal tooth, Hypodontia, Hypogonadotropic hypogonadism, H... OMIM:614381
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Failure to thrive, ... OMIM:617865
Sponastrime Dysplasia
Short long bone, Short dental root, Microdontia, Mesomelia, Metaphyseal irregularity, Flattened h... ORPHA:93357
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Clinodactyly, Transposition of the great ... OMIM:280000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Multiple carpal ossification centers, Dislocated radial head, Ventricular hypertrophy, Tibial bow... OMIM:143095
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Cornelia De Lange Syndrome 1
Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Long philtrum, Hypoplasia of... OMIM:122470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Widely spaced teeth, Delayed eruption of teeth, Seborrheic dermatitis, Gliosis, Gin... OMIM:301072
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Hepatomegaly, Mandibular prognathia, Enamel hypoplasia, Anodonti... ORPHA:90322
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Proximal placement of thumb, Hypoplasia of penis, Tooth agenesis,... ORPHA:818
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Annular pancreas, Delayed eruption of teeth, Mandibular prognathia, High pal... OMIM:268400
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involving bones of... ORPHA:221016
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Retrognathia, Delayed eruption of teeth, Slender long bone, Narrow philtru... OMIM:601812
Codas Syndrome
Atrioventricular canal defect, Genu valgum, Proximal placement of thumb, Delayed eruption of teet... OMIM:600373
Spondyloenchondrodysplasia
Hematuria, Delayed eruption of teeth, Skin rash, Hypoplastic ilia, Limb undergrowth, Proteinuria,... ORPHA:1855
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Delayed eruption of teeth, Skin rash, Abnormality of the dentition, Gingivitis, Eczematoid dermat... ORPHA:2314
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont... ORPHA:50814
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Delayed eruption ... ORPHA:369950
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Oligodontia, Hypogonadotropic hypogonadism, Delayed eruption of teeth ORPHA:447896
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Dubowitz Syndrome
Sandal gap, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Hypospadias, Aplasia/Hypoplasi... ORPHA:235
Microphthalmia, Lenz Type
Orofacial cleft, Abnormal shoulder morphology, Hydroureter, Hypospadias, Clinodactyly of the 5th ... ORPHA:568
Shwachman-Diamond Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Delayed eruption of teeth,... ORPHA:811
Microphthalmia, Syndromic 2
Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Long ph... OMIM:300166
Zimmermann-Laband Syndrome 1
Hepatomegaly, Hyperextensibility of the finger joints, Spina bifida occulta, Long penis, Short ph... OMIM:135500
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Persistence of primary teeth, Renal insufficiency ORPHA:375
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:90321
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Low urinary cyclic AMP response to PTH administration, Short metatarsal, De... ORPHA:79444
Schinzel-Giedion Syndrome
Retrognathia, Broad alveolar ridges, Tibial bowing, Abnormal heart morphology, Wide mouth, Short ... ORPHA:798
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, Clef... ORPHA:158687
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Delayed eruption of teeth OMIM:617105
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Clinodactyly of the 5th finger, Delayed eruption of teeth, Pelvic kidney, Camptodact... OMIM:247200
Teebi Hypertelorism Syndrome 1
Dental crowding, Micrognathia, Natal tooth, Long philtrum, Atrial septal defect, Ventricular sept... OMIM:145420
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Dislocated radial head, Femoral bowing, ... ORPHA:666
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Nephrocalcinosis, Multip... ORPHA:534
Apert Syndrome
Narrow palate, Delayed eruption of teeth, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Mandibu... ORPHA:87
Steatocystoma Multiplex
Natal tooth OMIM:184500
Campomelic Dysplasia
Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Short long bone, Tibial bowing, A... OMIM:114290
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Ectopic kidney, Short philtrum, Delayed eruption of teeth, Fin... ORPHA:2136
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Slender long bone... OMIM:234100
Singleton-Merten Syndrome 1
Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Aortic v... OMIM:182250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Osteolytic defects of the phalanges of th... ORPHA:280365
Meckel Syndrome, Type 1
Occipital encephalocele, Radial deviation of finger, Anencephaly, Wide mouth, Splenomegaly, Synda... OMIM:249000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Microgn... ORPHA:3035
Trisomy 9P
Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Downturned c... ORPHA:236
Fgfr2-Related Bent Bone Dysplasia
Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypoplastic ischia, Micrognathia, Na... ORPHA:313855
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Micrognathia, Natal tooth, Proteinuria, Ventricular septal defect, Tubulointerstitial ... OMIM:616901
Elsahy-Waters Syndrome
Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Penoscrotal hypospadias, Hyp... OMIM:211380
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Thick vermil... OMIM:615866
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Enlarged kidney, Increased hepatic glycogen c... ORPHA:79259
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Atrial septal defect, O... OMIM:619769
Pseudohypoparathyroidism Type 1B
Low urinary cyclic AMP response to PTH administration, Diaphyseal sclerosis, Delayed eruption of ... ORPHA:94089
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Conical tooth, Ab... ORPHA:1071
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Metaphyseal cupping, Short metacarpal, Abnormal epiphysis morpholo... ORPHA:50945
Stickler Syndrome
Cachexia, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula, Mitral valve prolapse, Abnor... ORPHA:828
Cockayne Syndrome A
Normal pressure hydrocephalus, Square pelvis bone, Hepatomegaly, Irregular menstruation, Renal in... OMIM:216400
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Delayed erupti... OMIM:300990
Dent Disease 1
Low-molecular-weight proteinuria, Metaphyseal irregularity, Fibular bowing, Renal phosphate wasti... OMIM:300009
Enamel-Renal Syndrome
Amelogenesis imperfecta, Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability... ORPHA:1031
Rabson-Mendenhall Syndrome
Polydactyly, Advanced eruption of teeth, Long penis, Dental crowding, Gingival overgrowth, Mandib... ORPHA:769
Trichothiodystrophy 3, Photosensitive
Eclabion, Carious teeth, Natal tooth, Failure to thrive OMIM:616395
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Pachyonychia Congenita
Advanced eruption of teeth, Angular cheilitis, Failure to thrive, Natal tooth, Oral leukoplakia ORPHA:2309
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Narrow iliac wing, High palate, Carious teeth, Hypoplasia of teeth, Bi... OMIM:607812
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Low urinary cyclic AMP response to PTH administration, Short metatarsal, De... ORPHA:79443
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, G... OMIM:204690
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Tibial b... OMIM:211350
Floating-Harbor Syndrome
Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Nephrocalcinosis, Wide mouth, ... ORPHA:2044
Recon Progeroid Syndrome
Thin vermilion border, Proximal placement of thumb, Dental crowding, Arachnodactyly, Smooth philt... OMIM:620370
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria ORPHA:839
Incontinentia Pigmenti
Orofacial cleft, Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal den... ORPHA:464
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad distal phalanx of finger, Dental crowding, Aortic valve stenosis, Pulmonic stenosis, Broad ... ORPHA:353281
Immunodeficiency 49
Short philtrum, Micrognathia, Natal tooth, Eosinophilia, Psoriasiform dermatitis OMIM:617237
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Nephropathy, Delayed eruption of teeth ORPHA:2238
Cornelia De Lange Syndrome
Proximal placement of thumb, Hypoplasia of penis, Oligodactyly, Long philtrum, Hip dislocation, H... ORPHA:199
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Focal Dermal Hypoplasia
Ureteral duplication, Short metacarpal, Myelomeningocele, Split foot, Midclavicular hypoplasia, S... OMIM:305600
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Eczematoid dermatitis, Cleft palate, Natal tooth, Acne inversa OMIM:617337
De Barsy Syndrome
Adducted thumb, Delayed eruption of teeth, Narrow mouth, High palate, Congenital hip dislocation,... ORPHA:2962
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Bowed humerus, Short meta... OMIM:272460
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Gingival overgrowth, Short metacarpal, R... ORPHA:508542
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t... OMIM:209885
Pitt-Hopkins Syndrome
Abnormal palate morphology, Short metatarsal, Short philtrum, Tooth malposition, Failure to thriv... ORPHA:2896
Cockayne Syndrome B
Normal pressure hydrocephalus, Square pelvis bone, Hepatomegaly, Severe failure to thrive, Renal ... OMIM:133540
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Hypospadias, Hy... OMIM:304120
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Pulmonic stenosis, Aor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Pulmonic stenosis, Aor... ORPHA:353277
Monosomy 9Q22.3
Polydactyly, Orofacial cleft, Large for gestational age, Delayed eruption of teeth, Hydrocephalus... ORPHA:77301
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Abnormal tricuspid valve morphology, Bowing of the long bo... ORPHA:199276
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Dental crowding, Ventricular hypertrophy, Female hypogonadism, Aortic valve stenosi... ORPHA:740
Dubowitz Syndrome
Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Eczematoid d... OMIM:223370
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Clinodactyly of the 5th fing... ORPHA:2769
Adnp Syndrome
Polydactyly, Advanced eruption of teeth, Urinary incontinence, Thick lower lip vermilion, Sandal ... ORPHA:404448
Coffin-Siris Syndrome 1
Retrognathia, Ectopic kidney, Sandal gap, Dislocated radial head, Prominent fingertip pads, Micro... OMIM:135900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Cholestasis, Internally rotated shoulders, Agenesis of permanent teeth, Wide mou... OMIM:619503
Coffin-Siris Syndrome
Thick lower lip vermilion, Hypospadias, Delayed eruption of teeth, Clinodactyly, Abnormal heart m... ORPHA:1465
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho... ORPHA:79500
Wiedemann-Rautenstrauch Syndrome
Hypoplastic facial bones, Short humerus, Long philtrum, Long toe, Clinodactyly, Genu varum, Hypos... OMIM:264090
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti... OMIM:600383
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Hypospadias, Hydrocephalus, Gingival overgrowth, High palate, Narrow mouth, Bifid ... OMIM:123790
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Short philtrum, Mandibular prognathia, Nephrolithiasis, Calcaneovalgus deformity, Long fingers, T... ORPHA:521445
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Pulmonic stenosis, Congenital malformation of the left heart, Short humerus, Long t... ORPHA:3455
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Orofaciodigital Syndrome Xiv
Epispadias, Occipital encephalocele, Supernumerary tooth, Preaxial polydactyly, Postaxial hand po... OMIM:615948
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Natal tooth OMIM:617802
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Delayed eruption of teeth, Distal femoral bowing, Tibial bowing, Coxa va... ORPHA:289176
Cockayne Syndrome
Urinary incontinence, Elevated circulating hepatic transaminase concentration, Cachexia, Splenome... ORPHA:191
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Clinodactyly of the 5th finger, Glossoptosis, Abnormali... ORPHA:2108
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia ORPHA:3214
Pachyonychia Congenita 2
Natal tooth, Folliculitis, Angular cheilitis, Oral leukoplakia OMIM:167210
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Hepatomegaly, Thick lower lip vermilion, Renal tubular acidosis, Tooth malposition,... ORPHA:2785
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Abnormal thumb morphology, Abnormal right ventricle m... ORPHA:500095
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Hepatomegaly, Delayed eruption of teeth, Hydrocephalus, Bowing of... ORPHA:667
Opitz Gbbb Syndrome
Hypospadias, Hypodontia, Patent foramen ovale, Vesicoureteral reflux, High palate, Ankyloglossia,... ORPHA:2745
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge... ORPHA:1519
Pallister-Hall Syndrome
Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Polydactyly affect... ORPHA:672
Charge Syndrome
Bifid femur, Abnormal cardiac septum morphology, Polydactyly, Abnormal tibia morphology, Abnormal... ORPHA:138
Gapo Syndrome
High, narrow palate, Hepatomegaly, Thick lower lip vermilion, Tubulointerstitial fibrosis, Erupti... OMIM:230740
Trichodermodysplasia-Dental Alterations Syndrome
Supernumerary tooth, Abnormal hip bone morphology, Delayed eruption of teeth, Tooth agenesis, Abn... ORPHA:3353
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Oligodontia, Natal tooth OMIM:601345
Restrictive Dermopathy 1
Rocker bottom foot, Stillbirth, Ureteral duplication, Hypospadias, Short clavicles, Temporomandib... OMIM:275210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, ... ORPHA:261537
Dihydropyrimidine Dehydrogenase Deficiency
Retrognathia, Uraciluria, Delayed eruption of teeth, High palate, Micromelia, Epiphyseal dysplasi... ORPHA:1675
Mowat-Wilson Syndrome
Urinary incontinence, Dental crowding, Everted lower lip vermilion, Aortic valve stenosis, Pulmon... ORPHA:2152
Cherubism
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... OMIM:118400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Branchial cyst, Ankyloglossia, Prolonged neonatal jaundice, Carious teeth, ... OMIM:620186
Lacrimoauriculodentodigital Syndrome 1
Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy... OMIM:149730
Barber-Say Syndrome
Failure to thrive, Wide mouth, Delayed eruption of teeth ORPHA:1231
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Delayed eruption of teeth, Slender long bone, High palate, Mi... OMIM:278250
Intellectual Developmental Disorder, Autosomal Dominant 54
Widely spaced teeth, Dental crowding, Eczematoid dermatitis, Urinary retention, Small for gestati... OMIM:617799
Incontinentia Pigmenti
Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Eosinophilia, Maculopapular ex... OMIM:308300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Abnormal jaw mor... ORPHA:261552
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Failure to thrive, Delayed eruption of prima... OMIM:300952
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Delayed eruption of teeth, Dental crowding, Mandibular progna... OMIM:614188
Familial Adenomatous Polyposis
Supernumerary tooth, Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliar... ORPHA:733
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Hypoplasia of penis, Cleft palate, Bifid uvula, Failure of eruption of permane... ORPHA:2250
Wrinkly Skin Syndrome
Delayed eruption of teeth, High palate, Atrial septal dilatation, Congenital hip dislocation, Cox... ORPHA:2834
Genitopatellar Syndrome
Multicystic kidney dysplasia, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Hypopla... OMIM:606170
Autosomal Dominant Kenny-Caffey Syndrome
Calvarial osteosclerosis, Thin long bone diaphyses, Persistence of primary teeth, Cortical thicke... ORPHA:93325
Pallister-Killian Syndrome
Everted lower lip vermilion, Aortic valve stenosis, Bifid uvula, Wide mouth, Long philtrum, Alveo... OMIM:601803
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Familial Adenomatous Polyposis 1
Supernumerary tooth, Eruption failure, Odontoma, Carious teeth, Hepatoblastoma OMIM:175100
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Skin rash, Chronic mucocutaneous candidiasis, High palate, Eczematoid d... OMIM:147060
Gardner Syndrome
Supernumerary tooth, Neoplasm of the pancreas, Odontoma, Abnormality of the dentition, Multiple u... ORPHA:79665
Restrictive Dermopathy
Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hypospadias, Temporomand... ORPHA:1662
Sotos Syndrome
Ureteral duplication, Prolonged neonatal jaundice, Abnormal heart morphology, Congenital posterio... ORPHA:821
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Delayed eruption of teeth, Abnormality of the dentition, Duplication of ren... ORPHA:2036
Ramon Syndrome
Narrow palate, Decreased body weight, Delayed eruption of teeth, Gingival fibromatosis OMIM:266270
Mowat-Wilson Syndrome
Widely spaced teeth, Hypospadias, Tooth malposition, Delayed eruption of teeth, Pulmonic stenosis... OMIM:235730
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, High palate, Nephrolithiasis, Narrow mouth, Tapered finger, Func... ORPHA:2953
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Adducted thumb, High palate, Narrow mouth, Nephrotic syndrome, Arachnod... OMIM:601776

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 Chst14

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 Chst14.

No publications found that use IMPC mice or data for Chst14.

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
Chst14tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Chst14em1(IMPC)Tcp Indel Mice, Tissue
Chst14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Chst14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chst14em6(IMPC)Tcp Intra-exon deletion Mice

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