banner
Genes Phenotypes Help, News, Blog

Gene: Chst14 MGI:1919386

Log in to follow

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
decreased exploration in new environment Chst14em1(IMPC)Tcp HET Early adult 1.25×10-05
preweaning lethality, incomplete penetrance Chst14em1(IMPC)Tcp HOM   Early adult 0.00
preweaning lethality, complete penetrance Chst14em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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

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.

X-ray

XRay Images Skull Lateral Orientation

11 Images

View images
Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
Gross Pathology and Tissue Collection

Images

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

7 Images

View images
X-ray

XRay Images Hind Leg and Hip

2 Images

View images

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
Microretrognathia, Thin upper lip vermilion, Abnormal heart valve morphology, Recurrent skin infe... ORPHA:2953
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Recurrent skin infections, Cryptorch... 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
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... OMIM:265900
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... OMIM:600002
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morp... ORPHA:63442
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Fla... OMIM:184260
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnorm... ORPHA:10
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi... ORPHA:2863
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia,... OMIM:618342
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Acne, Camptodactyly of finger, Gingival overgro... ORPHA:137834
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... ORPHA:950
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Micrognathia, Carious t... OMIM:214150
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology... ORPHA:1133
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capita... OMIM:612350
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi... ORPHA:166272
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Spi... ORPHA:1327
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... OMIM:618506
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro... OMIM:616354
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
48,Xxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Clinodactyly of the 5th finger, Abnormal dental ename... ORPHA:96263
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate... ORPHA:2712
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Small fo... ORPHA:2980
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Decreased fertility... ORPHA:1816
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly OMIM:613382
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Brachydactyly, Sandal gap, Cryptorchidism, Thick lower lip vermilion, ... OMIM:614607
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... OMIM:619797
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Abnormal heart morphology OMIM:600252
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Char Syndrome
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand polydactyly... ORPHA:46627
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
49,Xxxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Holoprosencephaly, Clinodactyly of the 5th finger, Ab... ORPHA:96264
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi... OMIM:601957
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Obesity, Enamel hypoplasia, Brachy... OMIM:612463
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... ORPHA:420561
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... ORPHA:2484
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers OMIM:619489
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short palm, Finger syndactyly, Camptodactyly of finger, Cleft upper li... ORPHA:915
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Mic... ORPHA:96170
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M... ORPHA:289
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short philtrum, Advan... OMIM:619148
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora... ORPHA:952
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Absent frontal sinuses, Increased density of long bo... OMIM:305620
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Micrognathia, Bowing of the l... OMIM:613849
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... OMIM:112350
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Short toe, Tooth agenesis, Truncal ... ORPHA:633
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Atr... OMIM:619356
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... OMIM:225500
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert... OMIM:619736
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, High palate, Abnormal tricuspid valve morphology, Widely spaced teeth,... ORPHA:192
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Mic... OMIM:609029
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Carious teeth, Subperiosteal bo... OMIM:277440
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased body ... OMIM:614450
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses o... OMIM:309350
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Persistence of primary teeth, Chronic mucocutaneous candidiasis, High pa... OMIM:147060
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Short metacarpal, Ivory epiphyses of the dis... OMIM:190350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Mi... OMIM:616300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplasti... OMIM:235510
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... OMIM:264700
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... OMIM:166250
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, High palate, Hypoplastic iliac... ORPHA:763
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, High palate, Short tibia, Atrioventricular canal defect, Finge... ORPHA:2751
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Patent foram... OMIM:269860
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Cone-shaped epiphysis, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Hypospadias, Abnor... ORPHA:2616
Acrocraniofacial Dysostosis
Micrognathia, Tapered finger, Coxa valga, Cleft palate, Ulnar deviation of finger, Genu valgum, F... ORPHA:949
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Obesity, Hypogonadism, ... OMIM:103580
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Endocrine-Cerebroosteodysplasia
Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Holoprosencephaly, Microphallus, T... OMIM:612651
Coffin-Siris Syndrome 3
Short distal phalanx of the 5th finger, Cleft palate, Abnormal heart morphology, Wide mouth, Macr... OMIM:614608
Microphthalmia With Limb Anomalies
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... OMIM:206920
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial bowing... OMIM:608940
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Micrognathia, High, narrow palate, Long fingers, Cryptorchidism, Abnormality of den... ORPHA:96092
Three M Syndrome 2
Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Prominent calcaneus, S... OMIM:612921
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Sulfocysteinuria, Eczema, Increased urinary sulfite level, Decreased u... OMIM:272300
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,... OMIM:269300
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,... OMIM:610253
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,... ORPHA:181
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Micrognathia, Truncal obesity, Hypogonadism... ORPHA:73272
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Holoprosencephaly, Neonatal death, Micropenis, Distal shortening of l... OMIM:146510
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Dental crowding, Urinary incontinence, Micrognathia, Abnormality of the dentition, Co... ORPHA:476126
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Small for gestational age, Abnormal dental ena... ORPHA:2909
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D... ORPHA:884
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen... OMIM:268310
Cardiospondylocarpofacial Syndrome
Brachydactyly, High, narrow palate, Mitral valve prolapse, Short palm, Failure of eruption of per... ORPHA:3238
Apert Syndrome
Mandibular prognathia, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal... OMIM:101200
Momo Syndrome
Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus... ORPHA:2563
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Obesity, Hypogonadism, Low urinary... OMIM:612462
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... ORPHA:1106
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum OMIM:618825
Shox-Related Short Stature
Micrognathia, Obesity, Genu valgum, Short foot, Tibial bowing, High palate, Forearm undergrowth, ... ORPHA:314795
Robinow Syndrome
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, We... ORPHA:97360
Osteoglosphonic Dysplasia
Rhizomelia, Failure to thrive in infancy, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple ... ORPHA:2645
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... OMIM:218400
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Abnormal metaphysea... OMIM:224300
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the den... ORPHA:2315
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... OMIM:614592
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Facial hyperostosis, Submucous clef... ORPHA:2780
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten d... OMIM:609638
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Abnormality of the dentition, Tapered finger, Large for gestational age, Thick lower... ORPHA:261652
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Pruritus, Moderate albuminuria, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the... OMIM:619269
Sotos Syndrome
Mandibular prognathia, Ventricular septal defect, High, narrow palate, Muscular ventricular septa... OMIM:117550
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re... ORPHA:261494
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Narrow palat... ORPHA:2063
Kabuki Syndrome 2
Natal tooth, Prominent fingertip pads, Micrognathia, Lower lip pit, Dental malocclusion, Hip disl... OMIM:300867
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... OMIM:614753
4H Leukodystrophy
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Hypodontia, Abnormality of the dentition ORPHA:289494
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... OMIM:259710
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Toe syndactyly, Failure to thrive in infancy, ... ORPHA:819
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... OMIM:265800
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognat... OMIM:616367
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Short metacarpal, Premature ovarian insufficiency, Small for gestation... ORPHA:221008
Genitopatellar Syndrome
Short palm, Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Micrognathi... ORPHA:85201
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... OMIM:300373
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... OMIM:210720
Raine Syndrome
Mandibular prognathia, Natal tooth, Bowing of the long bones, Hydroureter, Micromelia, Micrognath... OMIM:259775
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Exaggerated cupid's bow, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Sandal gap, Carious teeth, Overweight, Smal... OMIM:619229
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Atopic dermatitis, ... OMIM:619752
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ... OMIM:157980
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Gliosis, Short 4th toe,... OMIM:615873
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... OMIM:113300
Lowry-Maclean Syndrome
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na... ORPHA:2409
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Advanced eruption of teeth, Hyper... ORPHA:2348
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... OMIM:618727
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De... ORPHA:289157
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Tombstone-shaped ... OMIM:108721
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Skin rash, Abnorma... ORPHA:330015
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dysmenorrhea, Micrognathia, Nephrolithiasis, Ol... ORPHA:2067
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excreti... OMIM:309900
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Rothmund-Thomson Syndrome Type 2
Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, Short metacar... ORPHA:221016
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognathia, Dental ma... OMIM:269880
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal, R... OMIM:108720
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Genu valgum, Irregular epiphyses, Small ... ORPHA:263463
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... OMIM:119600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, H... OMIM:280000
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... ORPHA:2050
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Epiphyseal dysplasia, Hepatomegaly, Carious teeth, Splenomegaly, Hydro... OMIM:253200
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... OMIM:600373
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Proximal placement of thumb, High, narrow palate, Ectopic kidney, Renal... OMIM:122470
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Small for gestational age, Long penis, High palate, Advanced eruption of t... OMIM:262190
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Holoprosencephaly, Atrial septal ... ORPHA:818
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Cryptorchidism, Male hypo... ORPHA:90322
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Comple... OMIM:617925
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Ventricular septal hypertrophy, ... OMIM:619322
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Talipes equinovaru... OMIM:617865
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx... OMIM:143095
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation... OMIM:268400
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont... OMIM:614381
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Tapered finger, Seborrheic dermatitis, Splenomegaly, Mic... OMIM:301072
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... ORPHA:93357
Neuronal Intestinal Pseudoobstruction
Natal tooth, Abnormal cardiac septum morphology ORPHA:99811
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Abnormal dental morphology, Camptodact... ORPHA:568
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f... OMIM:307800
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... ORPHA:235
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Failure to thrive, Micro... OMIM:601812
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Proteinuria, Skin rash, Bowing of the legs, Hyp... ORPHA:1855
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... ORPHA:50814
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Skin rash, Eosinophilia, Eczema, Abnormality of the dentition, Pruritu... ORPHA:2314
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the ... OMIM:300166
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Micrognathia, ... OMIM:145420
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti... ORPHA:369950
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, ... OMIM:247200
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypogonadotropic hypogonadism, Hypodontia ORPHA:447896
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Hepatomegaly, Elevated hepatic transaminase, Sinusitis, Skin rash, Ecz... ORPHA:811
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Anti-Glomerular Basement Membrane Disease
Hematuria, Renal insufficiency, Proteinuria, Persistence of primary teeth ORPHA:375
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi... ORPHA:79444
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Proteinu... ORPHA:90321
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Short ... OMIM:135500
Hallermann-Streiff Syndrome
Natal tooth, Small for gestational age, Selective tooth agenesis, Spina bifida, Micrognathia, Hig... OMIM:234100
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Nephrocalcinosis OMIM:617105
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, ... OMIM:249000
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Short philtrum, High palate,... ORPHA:798
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... ORPHA:534
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... ORPHA:158687
Osteogenesis Imperfecta
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... ORPHA:666
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... ORPHA:2136
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Bilateral cryptorchidism, Eclabion, Failure to thrive OMIM:616395
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, S... OMIM:182250
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutaneous finger synd... OMIM:211380
Trisomy 9P
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly... ORPHA:236
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Dysmenorrhea, Micrognathia, Pancreatitis, Splenomegaly, Osteolytic defects of the p... ORPHA:280365
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cryptorchidism, High iliac wi... OMIM:607812
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Proteinuria, Ventricular septal defect, Micrognathia, Hematuria, Tubulointerstitial ... OMIM:616901
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal stenosis, Splenomegaly, Abnorma... ORPHA:3035
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Sho... ORPHA:2044
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria ORPHA:839
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Overweight, Atrial sept... OMIM:619769
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Clinodactyly, Thick vermilion border, Everted lower lip vermilion, Hig... OMIM:615866
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protrudin... ORPHA:50945
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ... OMIM:104570
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Carious teeth, Irregular menstruation, Oral ulcer, Gingivitis, Stage 5... ORPHA:79259
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowth, Hepatospl... ORPHA:313855
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... OMIM:300990
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Cockayne Syndrome A
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... OMIM:216400
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi... ORPHA:79443
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... ORPHA:1031
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Vesicoureteral reflux, Broad hallux... ORPHA:353281
Dent Disease 1
Bulging epiphyses, Renal insufficiency, Hyperphosphaturia, Bowing of the legs, Delayed epiphyseal... OMIM:300009
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Ventricular septal defect, Abnormality of the dentition, ... ORPHA:769
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia ORPHA:2309
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... OMIM:209885
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... OMIM:204690
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodon... OMIM:305600
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Advanced eruption of teeth, Arachnodactyly... ORPHA:828
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement of thumb, Delay... OMIM:620370
Pitt-Hopkins Syndrome
Tapered finger, Cryptorchidism, Broad fingertip, Short metatarsal, Small hand, Micropenis, Wide m... ORPHA:2896
De Barsy Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Narrow mouth, C... ORPHA:2962
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology ORPHA:2238
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia OMIM:616029
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... ORPHA:464
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... ORPHA:353277
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial... OMIM:304120
Immunodeficiency 49
Natal tooth, Psoriasiform dermatitis, Eosinophilia, Micrognathia, Short philtrum OMIM:617237
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Downturned corners of... ORPHA:199
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Eczema, Cleft palate, Short philtrum, Acne inversa OMIM:617337
Cockayne Syndrome B
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Small for gestational age, Proteinuria,... OMIM:133540
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Hypospadias, Eczema, Micrognathia, Carious teeth, Cryptorc... OMIM:223370
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Hepa... ORPHA:1465
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Bowed humerus, Tarsal synostosis, Capi... OMIM:272460
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Adnp Syndrome
Thin upper lip vermilion, Broad hallux, Sandal gap, Urinary incontinence, Abnormal toe morphology... ORPHA:404448
Coffin-Siris Syndrome 1
Conical tooth, Ectopic kidney, Prominent interphalangeal joints, Short philtrum, High palate, Atr... OMIM:135900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Eczema,... ORPHA:508542
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Hydroce... ORPHA:77301
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Downturned corners of mouth, Genu varum, Long toe, H... OMIM:264090
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Broad hallux,... OMIM:615948
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... ORPHA:2108
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Carious teeth, ... ORPHA:2769
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Abnormal tricuspid val... ORPHA:199276
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Persistence of primary teeth,... ORPHA:740
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... OMIM:619503
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis... ORPHA:79500
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Hypospadias, Hydrocephalus, Gingival overgrowth, Narrow palate, Hig... OMIM:123790
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... ORPHA:521445
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Short toe, Orofacia... ORPHA:1519
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Wide penis, Downturned corners of mouth, Short philtru... ORPHA:3455
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Micrognathia OMIM:617802
Cockayne Syndrome
Urinary incontinence, Gliosis, Hepatomegaly, Abnormal dental morphology, Cryptorchidism, Renal hy... ORPHA:191
Pallister-Hall Syndrome
Large for gestational age, Ectopic kidney, Holoprosencephaly, Atrial septal defect, Atrioventricu... ORPHA:672
Opitz Gbbb Syndrome
Natal tooth, Ventricular septal defect, Hypospadias, Micrognathia, Cleft lip, Cryptorchidism, Ves... ORPHA:2745
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Failure to thrive, Persistence of primary teeth, Micrognathia, Abnormality of the d... ORPHA:2785
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morph... ORPHA:667
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Holoprosencephaly, Vesicoureteral reflux, Clinoda... ORPHA:138
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis OMIM:167210
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Abnormal sacroiliac... ORPHA:289176
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational age, Abnormal thum... ORPHA:500095
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:261537
Gapo Syndrome
Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Lon... OMIM:230740
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sc... ORPHA:94089
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor... ORPHA:3353
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Failure to thrive, Congenital hip dislocation, Cari... OMIM:278250
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Micrognathia, Carious teeth,... OMIM:620186
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Restrictive Dermopathy 1
Natal tooth, Ureteral duplication, Hypospadias, Rocker bottom foot, Micrognathia, Submucous cleft... OMIM:275210
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:2152
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, Uraciluria, High pala... ORPHA:1675
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:261552
Barber-Say Syndrome
Delayed eruption of teeth, Failure to thrive, Wide mouth ORPHA:1231
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... OMIM:149730
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Eczema, Urinary re... OMIM:617799
Incontinentia Pigmenti
Delayed eruption of teeth, Maculopapular exanthema, Eosinophilia, Conical tooth, Oligodontia, Hyp... OMIM:308300
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... ORPHA:93325
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Failure to thrive, Dilated cardiomyopathy, Delayed eruption of prima... OMIM:300952
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocat... OMIM:606170
Wrinkly Skin Syndrome
Delayed eruption of teeth, Failure to thrive, Congenital hip dislocation, Carious teeth, Cryptorc... ORPHA:2834
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Fai... ORPHA:2250
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth,... ORPHA:733
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, H... OMIM:614188
Familial Adenomatous Polyposis 1
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hepatoblastoma OMIM:175100
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Renal cyst, Camptodactyly o... OMIM:601803
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Gardner Syndrome
Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u... ORPHA:79665
Sotos Syndrome
Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hyposp... ORPHA:821
Restrictive Dermopathy
Natal tooth, Ureteral duplication, Hypospadias, Dextrocardia, Camptodactyly of finger, Micrognath... ORPHA:1662
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Abnormality of the dentition, Pyelonephritis, Du... ORPHA:2036
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight OMIM:266270
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Hypospadias, Cryptorchidism, Submucous clef... OMIM:235730
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Abnormal heart valve morphology, Recurrent skin infe... ORPHA:2953
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Recurrent skin infections, Cryptorch... 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter