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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
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

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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.

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Eye Morphology

Images Ophthalmoscopy

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Hind Leg and Hip

2 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
High palate, Long philtrum, Tapered finger, Abnormal heart valve morphology, Microretrognathia, T... ORPHA:2953
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Arachnodactyly, High palate, Long philtrum, Nephrotic syndrome, Mitral valve prolapse, Microretro... 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
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pyle Disease
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... OMIM:265900
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
Eiken Syndrome
Pseudoepiphyses, Decreased body weight, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyse... OMIM:600002
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Short middle phalanx of the 5th finger, Delayed eruption of teeth, Hypodont... ORPHA:63442
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Hip dysplasia, Infertility, Taur... ORPHA:10
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, High palate, Decreased body weight, Thick lower lip vermilion, Micrognathia, Hypodo... OMIM:618342
Odontochondrodysplasia 1
Short phalanx of finger, Dentinogenesis imperfecta, Genu varum, Metaphyseal cupping, Long philtru... OMIM:184260
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Growth Hormone Insensitivity Syndrome
Hypogonadism, Delayed eruption of teeth, Hypoplasia of penis, Everted lower lip vermilion, Failur... ORPHA:181393
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Abnormality of the philtrum, High palate, Midshaft hypospadias, Delayed ... ORPHA:2863
Carpenter Syndrome 1
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... OMIM:201000
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Mitral val... ORPHA:137834
Aredyld Syndrome
Mandibular prognathia, Advanced eruption of teeth, Cachexia, Craniofacial hyperostosis, Abnormal ... ORPHA:1133
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... ORPHA:2025
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Dental malocclusion, Camptodactyly of finger, Broad femoral neck, High p... OMIM:612350
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Dental malocclusion, Short toe, Mandibular prognathia, High palate, Hall... ORPHA:1327
Acrodysostosis
Irregular menstruation, Short toe, Mandibular prognathia, Cone-shaped epiphysis, Hypogonadism, De... ORPHA:950
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Otopalatodigital Syndrome, Type I
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Selective tooth agene... OMIM:311300
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Delayed eruption of perman... OMIM:618506
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly, Cleft lip, Cleft palate, Increased overb... OMIM:618761
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Long philtrum, Delayed eruption of teeth, Small for gestational age, Micrognathia, Ca... OMIM:214150
Brachydactyly, Type B1
Ventricular septal defect, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Syndactyl... OMIM:113000
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Advanced pneumatization of cranial sinuses, Broad femoral head, Fibular ... ORPHA:85188
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Spina bifida ... ORPHA:1452
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Decreased fertility, Delayed eruption of teeth, Hypodontia, Hypoplasia of penis, Hypospadias, Nep... ORPHA:1816
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Genu valgum, Tooth malposition, Long philtrum, Abnormal cardiac septum morpho... ORPHA:2712
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed erup... ORPHA:166272
Brachydactyly, Type E2
Short metacarpal, Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal OMIM:613382
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... OMIM:257850
Acrootoocular Syndrome
Dental malocclusion, Short toe, Short metacarpal, Delayed eruption of teeth, Grayish enamel, Micr... ORPHA:2980
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Delayed eruption of teeth, Clinodactyly, Camptodactyly, Macroglossia,... OMIM:616354
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Lowry-Maclean Syndrome
Cleft palate, Abnormal heart morphology, Delayed eruption of teeth OMIM:600252
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... ORPHA:2325
Char Syndrome
Mesoaxial foot polydactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, To... ORPHA:46627
Codas Syndrome
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Extrahepatic biliary duct... ORPHA:1458
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Brachydactyly, Short metatarsal, ... OMIM:612463
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Short first metatarsal, Natal tooth, Short 1st metaca... OMIM:601957
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Vesicoureteral reflux, Hydronephrosis, Coxa valg... ORPHA:2484
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2026
Coffin-Siris Syndrome 2
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Sho... OMIM:614607
Acrofacial Dysostosis, Weyers Type
Conical tooth, Small hand, Hypodontia, Advanced eruption of teeth, Clinodactyly of the 5th finger... ORPHA:952
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Decreased fibular diameter, Long toe, Arachnodactyly, Long fingers OMIM:619489
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... OMIM:273050
Temple-Baraitser Syndrome
High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wide mouth, D... ORPHA:420561
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Hyperextensibility of the finger joints, Delayed eruption... OMIM:613849
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Coxa valga, Selective tooth agenesis, Delayed eruption of teeth, Disloca... OMIM:305620
Weismann-Netter Syndrome
Anterior tibial bowing, Lateral femoral bowing, Delayed eruption of permanent teeth, Fibular bowi... OMIM:112350
Laron Syndrome
Short toe, Delayed eruption of teeth, Micrognathia, Microdontia, Hypoplasia of penis, Brachydacty... ORPHA:633
Andersen Cardiodysrhythmic Periodic Paralysis
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Cleft palate,... OMIM:170390
48,Xxxy Syndrome
Mandibular prognathia, Coxa valga, Hypogonadism, Delayed eruption of teeth, Infertility, Taurodon... ORPHA:96263
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
49,Xxxxy Syndrome
Mandibular prognathia, Coxa valga, Hypogonadism, Delayed eruption of teeth, Infertility, Taurodon... ORPHA:96264
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Microdontia, Atrial septal defect, Bilateral triphalangeal thumbs, Short distal pha... OMIM:619356
Emanuel Syndrome
Truncus arteriosus, Delayed eruption of teeth, Micrognathia, Bifid uvula, Cleft palate, Broad jaw... ORPHA:96170
Acrocallosal Syndrome
Tapered finger, Everted upper lip vermilion, Abnormal cardiac septum morphology, Toe syndactyly, ... OMIM:200990
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Everted lowe... OMIM:619736
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Dental malocclusion, Short phalanx of finger, Mandibular prognathia, Hypo... OMIM:101800
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Long philtrum, Short foot, Delayed eruption of teeth, F... ORPHA:915
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, I... OMIM:614450
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Metaphyseal irregularity, Bulging epiphyses, Delayed eruption of teeth, Tibial... OMIM:277440
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Failure to thrive, Abnormal dent... ORPHA:3019
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Widely spaced teeth, Thick lower lip vermilion, Delayed ... OMIM:619797
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Over... OMIM:619148
Coffin-Lowry Syndrome
Tapered finger, Delayed eruption of teeth, Everted lower lip vermilion, Pseudoepiphyses of the me... ORPHA:192
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor... ORPHA:289
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Ivory epiphyses of the distal phalanges of the hand, Narrow palate, Long phi... OMIM:190350
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Persistence of prim... OMIM:147060
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Metaphyseal irregularity, Bulging epiphyses, Delayed eruption of teeth, Tibial... OMIM:264700
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... OMIM:309350
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Failure to thrive, Downturned corners of mouth, Abnormal d... ORPHA:2107
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Cone-shaped epiphysis, Delayed eruption of teeth ORPHA:71267
Emanuel Syndrome
Broad jaw, High palate, Long philtrum, Delayed eruption of primary teeth, Chronic oral candidiasi... OMIM:609029
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Cleft upper lip, Genu valgum, Natal tooth, Delayed eruption of teeth, Cap... OMIM:225500
Acrocraniofacial Dysostosis
Triphalangeal thumb, Genu valgum, Tapered finger, Coxa valga, Short 1st metacarpal, Micrognathia,... ORPHA:949
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Short toe, Low urinary cyclic AMP response to PTH administration, Hypogonadism... OMIM:103580
Cleidocranial Dysplasia 2
Genu valgum, Coxa valga, Delayed eruption of primary teeth, Aplastic clavicle, Delayed ossificati... OMIM:620099
Short-Rib Thoracic Dysplasia 12
Median cleft lip, Holoprosencephaly, Hepatomegaly, Short palm, Splenomegaly, Patent foramen ovale... OMIM:269860
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial effusion, Camptodactyly, Pericardial lymphangiectasia, Spi... OMIM:235510
Pycnodysostosis
Hypoplastic iliac wing, Dental malocclusion, Obtuse angle of mandible, Enamel hypoplasia, High pa... ORPHA:763
3M Syndrome
Decreased fertility, Hypoplastic pubic bone, Long philtrum, Delayed eruption of teeth, Slender lo... ORPHA:2616
Coffin-Siris Syndrome 3
High palate, Long philtrum, Wide mouth, Macroglossia, Short distal phalanx of the 5th finger, Del... OMIM:614608
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bifid tongue, Hypoplastic facial bones, Cleft palate, Narrow greater sciatic notch, ... OMIM:616300
Three M Syndrome 2
Dental malocclusion, High palate, Long philtrum, Short 5th finger, Delayed eruption of teeth, Sma... OMIM:612921
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Eczema, Increased urinary sulfite, Decreased urinary sulfate, Sulfocys... OMIM:272300
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, High palate, Coxa valga, Natal tooth, Absent para... OMIM:269300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Delayed eruption of teeth, Small for gestational age, Micrognathia, Clinodactyly, C... ORPHA:73272
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion,... ORPHA:181
Camurati-Engelmann Disease
Coxa valga, Delayed eruption of teeth, Cachexia, Cortical thickening of long bone diaphyses, Hype... ORPHA:1328
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Micrognathia, Metacarpal osteolysis, Gingival overgrowth, Thin metacar... OMIM:259600
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Rothmund-Thomson Syndrome
Malar rash, Broad ulna, Selective tooth agenesis, Delayed eruption of teeth, Microdontia, Skin ra... ORPHA:2909
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Coxa valga, Short 4th metacarpal, High palate, Abnormal carpal morphology... OMIM:127300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, ... OMIM:608940
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Cachexia, Everted lower lip ... ORPHA:884
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration, Hypogonadism, Delayed e... OMIM:612462
Cardiospondylocarpofacial Syndrome
Synostosis of carpal bones, Mitral valve prolapse, Failure of eruption of permanent teeth, Brachy... ORPHA:3238
Osteoglophonic Dysplasia
Short phalanx of finger, Short metatarsal, Eruption failure, Mandibular prognathia, High palate, ... OMIM:166250
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Eruption failure, 2-3 toe syndactyly, High palate, Long philtrum, Aplasia o... ORPHA:476126
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Long philtrum, Wide mouth, Aplasia/Hypoplasia of the gallbladder, Micrognathia, Hip... ORPHA:96092
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Shox-Related Short Stature
Genu valgum, High palate, Short foot, Micrognathia, Lower limb undergrowth, Ulnar radial head dis... ORPHA:314795
Orofaciodigital Syndrome Type 2
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Bifid tongue, Micrognathia, T... ORPHA:2751
Johanson-Blizzard Syndrome
Hydronephrosis, Abnormality of the pancreas, Abnormal cardiac septum morphology, Delayed eruption... ORPHA:2315
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Natal tooth, Micrognathia, Hepatosplenomegaly, Brachydactyly, Short clavi... OMIM:614592
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Tapered finger, Dental crowding OMIM:618825
Momo Syndrome
Thick upper lip vermilion, Dental malocclusion, Short sternum, High palate, Long philtrum, Delaye... ORPHA:2563
Dysosteosclerosis
Short diaphyses, Short sternum, Broad femoral neck, High palate, Natal tooth, Delayed eruption of... OMIM:224300
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Broad alveolar ridges, Patchy sclerosis of finger phalanx, Facial hyperost... OMIM:218400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Dentinogenesis imperfecta, Short phalanx of finger, Short toe, Periodontitis, Moder... OMIM:619269
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Abnormal metaphysis morphology, Delayed eruption of teeth, Large iliac wing, Microg... ORPHA:2780
Kabuki Syndrome 2
Dental malocclusion, Atrioventricular canal defect, High palate, Lower lip pit, Natal tooth, Decr... OMIM:300867
4H Leukodystrophy
Hypogonadotropic hypogonadism, Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Kleefstra Syndrome 1
Mandibular prognathia, Conotruncal defect, Natal tooth, Macroglossia, Everted lower lip vermilion... OMIM:610253
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Mandibular prognathia, Hydrocephalus, Hepatosplenomegaly, Diaphyseal sclerosis, Mand... OMIM:259710
Pycnodysostosis
Narrow palate, Delayed eruption of primary teeth, Aplastic clavicle, Micrognathia, Hypodontia, Ab... OMIM:265800
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Microphallus, Micrognathia, Enlarged... OMIM:612651
Apert Syndrome
Humeroradial synostosis, Delayed eruption of teeth, Bifid uvula, Postaxial hand polydactyly, Clef... OMIM:101200
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Hydroureter, Bicuspid aortic valve, Everted lowe... OMIM:616367
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, 2-3 toe syndactyly, Decreased body weight, Ventricular septal defect, Small ha... OMIM:619229
Robinow Syndrome, Autosomal Recessive 1
Bifid tongue, Micrognathia, Dislocated radial head, Radial deviation of finger, Absent uvula, Sho... OMIM:268310
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Microdontia, Narrow pelvis bone, Pseudoepiphyses of the metacarpals, Hypoplastic iliac wing, Shor... OMIM:210720
Malan Syndrome
Retrognathia, Mandibular prognathia, Coxa valga, Advanced eruption of teeth, Hyperplasia of the p... OMIM:614753
Smith-Magenis Syndrome
Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Toe syndactyly, Microg... ORPHA:819
Kleefstra Syndrome Due To A Point Mutation
Vesicoureteral reflux, Tapered finger, Natal tooth, Thick lower lip vermilion, Large for gestatio... ORPHA:261652
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Cleft pal... ORPHA:1106
Gapo Syndrome
Mandibular prognathia, Long philtrum, Hypogonadism, Delayed eruption of teeth, Micrognathia, Abno... ORPHA:2067
Raine Syndrome
Enamel hypoplasia, Bowing of the long bones, Mandibular prognathia, High palate, Neonatal death, ... OMIM:259775
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Micrognathia, Bifid uvula, Camptodactyly, Spina bifida occulta, Cleft... OMIM:300373
Lead Poisoning
Tubulointerstitial nephritis, Delayed eruption of teeth, Small for gestational age, Skin rash, De... ORPHA:330015
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Secondary amenorrhea, Advanced eruption of teeth, Hepatic steatosis, Hypertrophic c... ORPHA:2348
Brachydactyly, Type E1
Short metacarpal, Brachydactyly, Multiple impacted teeth, Short metatarsal, Type E brachydactyly,... OMIM:113300
Rothmund-Thomson Syndrome Type 1
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... ORPHA:221008
Pallister-Hall Syndrome
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Holoprosencephaly, Postaxial hand polydact... OMIM:146510
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Genu varum, Delayed eruption of teeth, Tibial bowing, Generalized aminoaciduri... ORPHA:289157
Andersen-Tawil Syndrome
2-3 toe syndactyly, High palate, Small hand, Micrognathia, Oligodontia, Clinodactyly of the 5th t... ORPHA:37553
Dysosteosclerosis
Ventricular septal defect, Delayed eruption of teeth, Coarse metaphyseal trabecularization, Crani... ORPHA:1782
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Tapered distal phala... OMIM:609638
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Crowded maxillary incisors, Narrow palate, Micrognathia, Hip dysplasia, Abnormal palate morpholog... ORPHA:2063
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Dermatan sulfate excre... OMIM:309900
Sotos Syndrome
Genu valgum, Mandibular prognathia, High palate, Narrow palate, Ventricular septal defect, Long m... OMIM:117550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Clinodactyly, Br... OMIM:618727
Acrocraniofacial Dysostosis
Short first metatarsal, Natal tooth, Short 1st metacarpal, Micrognathia, Short philtrum, Metatars... OMIM:201050
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Momo Syndrome
Short sternum, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ... OMIM:157980
Kleefstra Syndrome
Vesicoureteral reflux, Mandibular prognathia, Ventricular septal defect, Delayed eruption of teet... ORPHA:261494
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... OMIM:277170
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Small for gestational age, Hypodontia, Micrognath... OMIM:269880
Mucopolysaccharidosis, Type Vi
Hypoplastic iliac wing, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularity, Delayed er... OMIM:253200
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Oro... ORPHA:97360
Helsmoortel-Van Der Aa Syndrome
Polydactyly, Tapered finger, Microdontia, Everted lower lip vermilion, Broad hallux, Smooth philt... OMIM:615873
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Micrognathia, Hip dislocatio... OMIM:119600
Cole-Carpenter Syndrome
Crumpled long bones, Delayed eruption of teeth, Micrognathia, Communicating hydrocephalus, Abnorm... ORPHA:2050
Osteoglosphonic Dysplasia
Micrognathia, Multiple unerupted teeth, Tooth agenesis, Brachydactyly, Failure to thrive in infancy ORPHA:2645
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Atrioventricular canal defect, Delayed eruption of primary teeth, Abnor... ORPHA:2409
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, High palate, Small for gestational age, Advanced eruption of teeth, Long p... OMIM:262190
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Supernumerary tooth, Cutaneous abscess, Chronic mucocutaneous candidiasis, Persisten... OMIM:619752
Marbach-Rustad Progeroid Syndrome
Eruption failure, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Ventricular septal... OMIM:619322
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Short tibia, Neonatal death, Hypoplastic pubic bone, Natal tooth, Short long ... OMIM:617925
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hip contracture, Long philtrum, Hypoplastic ilia, Delayed eruption ... ORPHA:85201
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Long phi... ORPHA:2215
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Natal tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Hip dislocation, Hypogonadotropi... OMIM:614381
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Natal tooth ORPHA:99811
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Tapered finger, Delayed eruption of teeth, Widely spaced teeth, Microdontia, Mic... OMIM:301072
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Ventricular hypertrophy, Shoulder dislocation, Camptodactyly of finger, ... OMIM:143095
Rothmund-Thomson Syndrome Type 2
Short phalanx of finger, Genu varum, Abnormality of the radial head, High palate, Metaphyseal scl... ORPHA:221016
Cockayne Syndrome Type 2
Enamel hypoplasia, Mandibular prognathia, Delayed eruption of primary teeth, Anodontia, Widely sp... ORPHA:90322
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irregulari... OMIM:307800
Chst3-Related Skeletal Dysplasia
Genu valgum, Long philtrum, Short metacarpal, Delayed eruption of teeth, Irregular epiphyses, Sma... ORPHA:263463
Robinow Syndrome, Autosomal Dominant 1
Bifid tongue, Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Dislocated radial ... OMIM:180700
Codas Syndrome
Short phalanx of finger, Enamel hypoplasia, Atrioventricular canal defect, Genu valgum, Ventricul... OMIM:600373
Premature Aging Syndrome, Penttinen Type
Retrognathia, Short foot, Delayed eruption of teeth, Micrognathia, Slender long bone, Narrow phil... OMIM:601812
Cornelia De Lange Syndrome 1
2-3 toe syndactyly, Delayed eruption of teeth, Micrognathia, Dislocated radial head, Reduced rena... OMIM:122470
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, High palate, Short foot, Hypogonadism, Delayed eruption of teeth, Small fo... OMIM:268400
Sponastrime Dysplasia
Hip subluxation, Microdontia, Flat capital femoral epiphysis, Hip dislocation, Ivory epiphyses of... ORPHA:93357
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, 2-3 toe syndactyly, Bifid tongue, Micrognathia, Hip dislocation, H... ORPHA:818
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... ORPHA:50814
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... OMIM:602111
Autosomal Dominant Hyper-Ige Syndrome
Gingivitis, Delayed eruption of teeth, Skin rash, Eczema, Eosinophilia, Cleft palate, Pruritus, A... ORPHA:2314
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Oral ulcer, Metaphyseal irregularity, Abnormal finger morphology, Delayed ... ORPHA:811
Dyggve-Melchior-Clausen Disease
Hypoplastic facial bones, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Hypopl... OMIM:223800
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypogonadotropic hypogonadism, Hypodontia, Oligodontia, Delayed eruption of teeth ORPHA:447896
Spondyloenchondrodysplasia
Dental malocclusion, Hypoplastic ilia, Delayed eruption of teeth, Hepatitis, Skin rash, Hematuria... ORPHA:1855
Dubowitz Syndrome
Delayed eruption of teeth, Toe syndactyly, Micrognathia, Eczema, Metatarsus adductus, Spina bifid... ORPHA:235
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Micrognathia, Abnormality of dental morphol... ORPHA:369950
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap OMIM:216300
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Widely spaced teeth, Advanced eruption of teeth, Everted lower lip vermilion, Failure to thrive, ... OMIM:617865
Microphthalmia, Lenz Type
Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Delayed erupti... ORPHA:568
Pseudohypoparathyroidism Type 1C
Broad distal phalanx of the thumb, Enamel hypoplasia, Low urinary cyclic AMP response to PTH admi... ORPHA:79444
Zimmermann-Laband Syndrome 1
Cardiomyopathy, Mandibular prognathia, High palate, Long philtrum, Wide mouth, Delayed eruption o... OMIM:135500
Atelosteogenesis, Type I
Short metatarsal, Encephalocele, Short metacarpal, Multinucleated giant chondrocytes in epiphysea... OMIM:108720
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Persistence of primary teeth ORPHA:375
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Micrognathia, Camptodactyly, Hepatoblastoma, Overlapping toe, Abnormal... ORPHA:798
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Delayed eruption of teeth OMIM:617105
Cockayne Syndrome Type 1
Enamel hypoplasia, Mandibular prognathia, Delayed eruption of primary teeth, Anodontia, Elevated ... ORPHA:90321
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Polydactyly, Delayed eruption of teeth, Micrognathia, Camptodactyly, C... OMIM:247200
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, Cl... ORPHA:158687
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Decreased body weight, Delayed eruption of teeth, Bifid uvula, Broad hallux, ... OMIM:300166
Meckel Syndrome, Type 1
Camptodactyly of finger, Asplenia, Abnormal cardiac septum morphology, Micrognathia, Malformation... OMIM:249000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Splenomegaly, Acroosteolysis of distal phalanges... ORPHA:280365
Hennekam Syndrome
Retrognathia, Camptodactyly of finger, Finger syndactyly, Delayed eruption of teeth, Pericardial ... ORPHA:2136
Osteogenesis Imperfecta
Noncommunicating hydrocephalus, Delayed eruption of teeth, Micrognathia, Dislocated radial head, ... ORPHA:666
Trisomy 9P
Non-midline cleft lip, Clinodactyly of the 5th finger, Downturned corners of mouth, Brachydactyly... ORPHA:236
Oculocerebrorenal Syndrome Of Lowe
Gingivitis, Aminoaciduria, Delayed eruption of teeth, Micrognathia, Taurodontia, Hip dislocation,... ORPHA:534
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Ventricular septal defect, Natal tooth, Micrognathia, Hematuria, Pr... OMIM:616901
Hallermann-Streiff Syndrome
Dental malocclusion, Narrow palate, High palate, Natal tooth, Selective tooth agenesis, Small for... OMIM:234100
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Narrow palate, Finger syndactyly, Delayed... ORPHA:87
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Hip subluxation, De... OMIM:182250
Teebi Hypertelorism Syndrome 1
Long philtrum, Natal tooth, Ventricular septal defect, Small hand, Micrognathia, Atrial septal de... OMIM:145420
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Micrognathia, Hypoplastic ischia, Hepatosplenomegaly, Bowing of the legs, Incomplete... ORPHA:313855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Gingivitis, Oral ulcer, Periodontitis, Stage 5 chronic kidney disease, En... ORPHA:79259
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Delayed eruption of permanent teeth, Nephrotic syndrome ORPHA:839
Campomelic Dysplasia
Irregular dentition, Short phalanx of finger, Spinal dysraphism, Hallux valgus, Micrognathia, Hip... OMIM:114290
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Seborrheic derma... OMIM:104570
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of fibula m... ORPHA:3035
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
High palate, Delayed eruption of teeth, Clinodactyly, Short philtrum, Everted lower lip vermilion... OMIM:615866
Elsahy-Waters Syndrome
Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Dela... OMIM:211380
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect, Overweight, Persistence of primary teeth, Dental... OMIM:619769
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Ventricular septal defect, Finger syndactyly, Delayed erupt... ORPHA:1071
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Metaphyseal irregularity, Delayed e... OMIM:300009
Enamel-Renal Syndrome
Impaired renal concentrating ability, Enuresis, Delayed eruption of teeth, Nephrocalcinosis, Hypo... ORPHA:1031
Pseudohypoparathyroidism Type 1A
Broad distal phalanx of the thumb, Enamel hypoplasia, Low urinary cyclic AMP response to PTH admi... ORPHA:79443
Rabson-Mendenhall Syndrome
Cardiomyopathy, Polydactyly, Mandibular prognathia, High palate, Ventricular septal defect, Nephr... ORPHA:769
Trichothiodystrophy 3, Photosensitive
Carious teeth, Failure to thrive, Eclabion, Natal tooth 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
Angular cheilitis, Natal tooth, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia ORPHA:2309
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Dagger-shaped pulp calcificatio... OMIM:204690
Cockayne Syndrome A
Irregular menstruation, Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hypoplasti... OMIM:216400
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Thin upper lip ve... OMIM:607812
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Stickler Syndrome
Micrognathia, Cachexia, Hip dislocation, Tooth agenesis, Slender build, Cleft palate, Glossoptosi... ORPHA:828
Familial Isolated Hypoparathyroidism
Nephropathy, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent foramen ovale, Delayed eruption of teeth, Nephrocalcinosis, Micrognathia, Bifid uvula, Sub... OMIM:300990
Floating-Harbor Syndrome
Congenital posterior urethral valve, Microdontia, Dislocated radial head, Avascular necrosis of t... ORPHA:2044
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Immunodeficiency 49
Natal tooth, Micrognathia, Short philtrum, Eosinophilia, Psoriasiform dermatitis OMIM:617237
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Acne inversa, Short philtrum, Eczema, Cleft palate OMIM:617337
Focal Dermal Hypoplasia
Short phalanx of finger, Bifid ureter, Short 4th metacarpal, Delayed eruption of teeth, Toe synda... OMIM:305600
Incontinentia Pigmenti
Camptodactyly of finger, Finger syndactyly, Delayed eruption of teeth, Hypodontia, Abnormality of... ORPHA:464
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Cleft palat... OMIM:304120
Cockayne Syndrome B
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Delayed eruption of primary t... OMIM:133540
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad hallux, Nephrolithiasis, Talon cusp, Vesicoureteral reflux, Narrow palate, Ventricular sept... ORPHA:353281
Cornelia De Lange Syndrome
Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hip dislocation, Primary amenorrhea, Cle... ORPHA:199
Monosomy 9Q22.3
Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Hydroc... ORPHA:77301
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Coxa valga, Delayed eruption of teeth, Short lingual frenulum, Micrognat... ORPHA:740
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Aplastic clavicle, Aplasia/hypoplasia of the femur, Clinodactyly of the 5t... ORPHA:2769
Pitt-Hopkins Syndrome
Tooth malposition, Tapered finger, Small hand, Wide mouth, Short philtrum, Failure of eruption of... ORPHA:2896
Dubowitz Syndrome
High palate, Delayed eruption of teeth, Micrognathia, Velopharyngeal insufficiency, Submucous cle... OMIM:223370
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Aplastic clavicle, Long philtrum, Natal tooth, Short metacarpal, Micrognathi... ORPHA:50945
De Barsy Syndrome
High palate, Ventricular septal defect, Coxa vara, Delayed eruption of teeth, Adducted thumb, Fai... ORPHA:2962
Doors Syndrome
Short 5th finger, Short lingual frenulum, Spina bifida occulta, Sirenomelia, Cleft palate, Gingiv... ORPHA:79500
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Coxa vara, Capitate-hamate fusion, Short metacarpal, Clinodactyly of the 5th f... OMIM:272460
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short metacarpal, Delayed eruption of teeth, Short humerus, Noncompaction cardiomyopathy, Eczema,... ORPHA:508542
Barber-Say Syndrome
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Delayed eruption of teeth, W... OMIM:209885
Coffin-Siris Syndrome 1
Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Dislocat... OMIM:135900
Kyphomelic Dysplasia
Cleft upper lip, Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowin... OMIM:211350
Familial Multiple Lipomatosis
Bowing of the long bones, Odontogenic keratocysts of the jaw, Premature eruption of permanent tee... ORPHA:199276
Coffin-Siris Syndrome
Short 5th finger, Ventricular septal defect, Wide mouth, Delayed eruption of teeth, Thick lower l... ORPHA:1465
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, High palate, Natal tooth, Bifid uvula, Hydrocephalus, Overlapping toe, Hypospadias... OMIM:123790
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polydactyly, Micrognathia, Broad hallux, Nephrolithiasis, Widened distal phalanges, Talon cusp, V... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polydactyly, Micrognathia, Broad hallux, Nephrolithiasis, Widened distal phalanges, Talon cusp, V... ORPHA:353277
Adnp Syndrome
Urinary incontinence, 2-3 toe syndactyly, Polydactyly, Abnormal finger morphology, Thick lower li... ORPHA:404448
Hallermann-Streiff Syndrome
Small hand, Natal tooth, High, narrow palate, Micrognathia, Clinodactyly of the 5th finger, Super... ORPHA:2108
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Natal tooth OMIM:617802
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tapered finger, Short philtrum, Calcaneovalgus deformity, Delayed eruption... ORPHA:521445
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Hip subluxation, Tapered finger, Cleft soft palate, Delayed eruption... OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Micrognathia, Secundum atrial septal defect, Hypoplastic facial bones,... OMIM:264090
Orofaciodigital Syndrome Xiv
Lobulated tongue, Bifid tongue, Ventricular septal defect, Natal tooth, Micrognathia, Supernumera... OMIM:615948
Wiedemann-Rautenstrauch Syndrome
Dilatation of renal calices, Camptodactyly of finger, 2-3 toe syndactyly, Short humerus, Short fe... ORPHA:3455
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Hydronephrosis, Tooth malposition, Prominence of the zygomatic bone, High palate, R... ORPHA:2785
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia ORPHA:3214
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Hydrocephalus, Abnormal pulmonary val... ORPHA:667
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Genu varum, Abnormality of renal excretion, Coxa vara, Delayed eruption ... ORPHA:289176
Cockayne Syndrome
Abnormal number of teeth, Cachexia, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Ab... ORPHA:191
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Pallister-Hall Syndrome
Atrioventricular canal defect, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation... ORPHA:672
Pachyonychia Congenita 2
Oral leukoplakia, Angular cheilitis, Natal tooth, Folliculitis OMIM:167210
Specc1L-Related Hypertelorism Syndrome
Short toe, Long philtrum, Ventricular septal defect, Finger syndactyly, Advanced eruption of teet... ORPHA:1519
Charge Syndrome
Vesicoureteral reflux, Cleft upper lip, Aqueductal stenosis, Abnormal cardiac septum morphology, ... ORPHA:138
Opitz Gbbb Syndrome
Vesicoureteral reflux, Patent foramen ovale, High palate, Long philtrum, Natal tooth, Ventricular... ORPHA:2745
Gapo Syndrome
Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia, Hepatomegaly, Tubuloint... OMIM:230740
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Supernumerary tooth, Tooth agenesis,... ORPHA:3353
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration, Delayed eruption of tee... ORPHA:94089
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Oligodontia, Natal tooth OMIM:601345
Restrictive Dermopathy 1
Overtubulated long bones, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Submucous... OMIM:275210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Broad hallux, Cle... ORPHA:261537
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
Lacrimoauriculodentodigital Syndrome 1
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... OMIM:149730
Cherubism
Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Alveolar ridge overgrowth, Multipl... OMIM:118400
Mowat-Wilson Syndrome
Asplenia, Decreased body weight, Tapered finger, Abnormal cardiac septum morphology, Delayed erup... ORPHA:2152
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Eosinophilia, Maculopapular ex... OMIM:308300
Mesomelia-Synostoses Syndrome
Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Micrognathia, Ti... OMIM:600383
Intellectual Developmental Disorder, Autosomal Dominant 54
Delayed eruption of primary teeth, Urinary retention, Widely spaced teeth, Small for gestational ... OMIM:617799
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Failure to thrive, Delayed eruption of prima... OMIM:300952
Wrinkly Skin Syndrome
High palate, Long philtrum, Coxa vara, Delayed eruption of teeth, Microdontia, Slender long bone,... OMIM:278250
Dihydropyrimidine Dehydrogenase Deficiency
Retrognathia, High palate, Deep philtrum, Delayed eruption of teeth, Epiphyseal dysplasia, Uracil... ORPHA:1675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Broad hallux, Dup... ORPHA:261552
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Eruption failure, Odontoma, Cholangiocarcinoma, Supernumerary tooth, H... ORPHA:733
Craniosynostosis And Dental Anomalies
Short phalanx of finger, Dental malocclusion, 2-3 toe syndactyly, Mandibular prognathia, Narrow p... OMIM:614188
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, Bifid uvula, Submucous cleft hard palate, Hypoplasia of penis, Failure of eruption ... ORPHA:2250
Autosomal Dominant Kenny-Caffey Syndrome
Calvarial osteosclerosis, Stenosis of the medullary cavity of the long bones, Cortical thickening... ORPHA:93325
Wrinkly Skin Syndrome
High palate, Long philtrum, Slender long bones with narrow diaphyses, Delayed eruption of teeth, ... ORPHA:2834
Genitopatellar Syndrome
Short phalanx of finger, Multicystic kidney dysplasia, Hip contracture, Ventricular septal defect... OMIM:606170
Familial Adenomatous Polyposis 1
Eruption failure, Odontoma, Supernumerary tooth, Hepatoblastoma, Carious teeth OMIM:175100
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Pallister-Killian Syndrome
Short phalanx of finger, Delayed eruption of teeth, Micrognathia, Bifid uvula, Hip dislocation, E... OMIM:601803
Gardner Syndrome
Odontoma, Neoplasm of the pancreas, Supernumerary tooth, Hepatoblastoma, Multiple unerupted teeth... ORPHA:79665
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Pyelonephritis, Duplication of renal pelvis, Ureteral duplication, Abn... ORPHA:2036
Ramon Syndrome
Gingival fibromatosis, Narrow palate, Decreased body weight, Delayed eruption of teeth OMIM:266270
Restrictive Dermopathy
Camptodactyly of finger, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Submucous ... ORPHA:1662
Sotos Syndrome
Decreased fertility, Vesicoureteral reflux, Hydronephrosis, Bilateral camptodactyly, Renal insuff... ORPHA:821
Mowat-Wilson Syndrome
Ventricular septal defect, Widely spaced teeth, Delayed eruption of teeth, Submucous cleft hard p... OMIM:235730
Musculocontractural Ehlers-Danlos Syndrome
High palate, Long philtrum, Tapered finger, Abnormal heart valve morphology, Microretrognathia, T... ORPHA:2953
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Arachnodactyly, High palate, Long philtrum, Nephrotic syndrome, Mitral valve prolapse, Microretro... 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.

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MGI Allele Allele Type Produced
Chst14tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Chst14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Chst14em1(IMPC)Tcp Indel Mice, Tissue
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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