Gene Summary

Name:
FAM20A, golgi associated secretory pathway pseudokinase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Fam20atm1b(KOMP)Wtsi HOM Early adult 8.71×10-05
short tibia Fam20atm1b(KOMP)Wtsi HOM Early adult 8.19×10-12
abnormal kidney morphology Fam20atm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 50% (2 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images  Section images heterozygote 100% (4 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 75% (3 of 4)
Diaphragm  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images heterozygote 25% (1 of 4)
Gonadal fat pad  Wholemount images  Section images heterozygote 75% (3 of 4)
Ileum  Section images heterozygote 50% (2 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Liver  Wholemount images heterozygote 50% (2 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 75% (3 of 4)
Mesenteric lymph node  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 75% (3 of 4)
Ovary  Wholemount images heterozygote 25% (1 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Pancreas  Wholemount images  Section images heterozygote 75% (3 of 4)
Parotid gland  Section images heterozygote 50% (2 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images heterozygote 25% (1 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Quadriceps  Section images heterozygote 25% (1 of 4)
Skin  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 50% (2 of 4)
Spleen  Wholemount images  Section images heterozygote 75% (3 of 4)
Stomach  Wholemount images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 50% (2 of 4)
Tongue  Wholemount images  Section images heterozygote 75% (3 of 4)
Trachea  Wholemount images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 75% (3 of 4)
Uterus  Wholemount images  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images heterozygote 25% (1 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Duodenum N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 25% (1 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (2 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood 0.0%
bone marrow 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
diaphragm 0.0%
duodenum 3.82% (5 of 131)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
ileum 13.33% (16 of 120)
jejunum 9.23% (12 of 130)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 292)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

60 Images

Histopathology

Images

4 Images

Adult LacZ

LacZ Images Wholemount

41 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Fam20a 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 Fam20a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fam20a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria OMIM:202900
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79405
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Taurodontism
Taurodontia OMIM:272700
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Enamel hypoplasia, Focal segmental glomerulosclerosis, Proteinuria OMIM:618349
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology, Aminoaciduria ORPHA:3199
Epidermolysis Bullosa, Junctional 4, Intermediate
Scarring alopecia of scalp, Dental enamel pits, Carious teeth OMIM:619787
17Q11.2 Microduplication Syndrome
Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Recurrent respiratory infections, Thick vermilion border, Carious teeth ORPHA:363523
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... ORPHA:3352
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars ORPHA:79402
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Taurodontia, Increased renal tubular phosphate reabs... OMIM:211900
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... ORPHA:251393
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia, Recurrent respiratory infections ORPHA:2643
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening OMIM:600991
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Urethral stricture, Increased connective tissue, Carious teeth, Enamel hypoplasia, Scarring alope... OMIM:226670
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Enam... OMIM:234250
Alopecia Antibody Deficiency
Recurrent respiratory infections, Abnormality of dental color ORPHA:1006
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia, Recurrent respiratory infections OMIM:251190
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Recurrent upper respiratory tract infections, Long philtru... ORPHA:99329
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... ORPHA:2325
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Conical mandibular inci... OMIM:601668
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Atkin-Flaitz Syndrome
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... ORPHA:1193
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Coarctation of aorta, Patent du... OMIM:615502
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Trichodental Dysplasia
Odontodysplasia, Conical tooth, Hypodontia OMIM:601453
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Hyp... ORPHA:1031
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Usher Syndrome Type 2
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:231178
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated incisors, Abnormality of... OMIM:272440
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypoplasia of teeth, Medullary nephrocalcinosis, Carious teeth OMIM:613312
Oculocerebrodental Syndrome
Stroke, Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, ... ORPHA:557003
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Familial Isolated Hypoparathyroidism
Cerebral calcification, Nephropathy, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Recurrent lower ... OMIM:253250
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth OMIM:612843
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Multicystic kidney dyspl... OMIM:619980
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
48,Xxyy Syndrome
Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of t... ORPHA:10
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... ORPHA:166108
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Recurrent mandibular subluxations, Ever... OMIM:225410
Pseudohypoparathyroidism, Type Ic
Choroid plexus calcification, Basal ganglia calcification, Delayed eruption of teeth, Enamel hypo... OMIM:612462
Ramon Syndrome
Delayed eruption of teeth, Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology ORPHA:3019
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Incisor macrodontia, Widely-spaced maxillary central incisors, Thin upper li... OMIM:619719
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... OMIM:618363
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Oral mucosal blisters, Enamel hypoplasia, Arthrogryposis multiplex congenita, Urethrovesical occl... OMIM:226730
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis ORPHA:2026
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening, Hemolytic-uremic syndrome OMIM:614727
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors OMIM:610706
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Pseudohypoparathyroidism, Type Ia
Choroid plexus calcification, Basal ganglia calcification, Delayed eruption of teeth, Enamel hypo... OMIM:103580
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Flexion contra... ORPHA:90322
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Gingival overgrowth, Dagger-shaped pulp calcifications, Pol... OMIM:204690
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Hypoplasia of penis, Hypodontia, Hypospadias, Delayed eruption of teeth, Shagree... ORPHA:1816
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Enuresis, Hypospadias, Short philtrum, Micr... OMIM:619293
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Multicystic kidney dysplasia, Carious t... ORPHA:3270
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Malar flattening, Hypospadias, Bilateral cleft lip and palate, Enamel hypoplasia, An... OMIM:618874
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Coarctation of aorta, Horseshoe kidney, Abnormality of dental morphology, Abno... OMIM:163200
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Corneodermatoosseous Syndrome
Hypomature dental enamel OMIM:122440
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Taurodontia, Cerebral calcification, Abnormality of the dentition, Camptodactyly of finger, Abnor... ORPHA:3220
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology ORPHA:59303
Cranioectodermal Dysplasia 4
Taurodontia, Thin vermilion border, Recurrent pneumonia, Stage 5 chronic kidney disease, Smooth p... OMIM:614378
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Odontochondrodysplasia
Retrognathia, Patent ductus arteriosus, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth ORPHA:3010
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp OMIM:605282
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Abnormal... ORPHA:1133
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Scarf Syndrome
Inguinal hernia, Micropenis, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcificatio... ORPHA:3134
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... OMIM:157980
Mucopolysaccharidosis, Type Ivb
Wide mouth, Inguinal hernia, Recurrent upper respiratory tract infections, Grayish enamel, Cariou... OMIM:253010
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Hypodontia, Cleft palate, Hypospadias, Oligodontia, Enamel hypoplasia, Thick ver... OMIM:619184
Temtamy Syndrome
Micrognathia, Long philtrum, Aortic aneurysm, Dental crowding, Hypoplasia of teeth OMIM:218340
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth ORPHA:3214
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Calcification Of Joints And Arteries
Intervertebral disk calcification, Femoral arterial calcification, Tibial arterial calcification,... OMIM:211800
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Proteinuri... OMIM:249620
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Cerebral calcification, Micrognathia, Hypoplasia of the zygomatic bone, Cari... ORPHA:3145
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
48,Xxxy Syndrome
Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of t... ORPHA:96263
Immunodeficiency 9
Stomatitis, Amelogenesis imperfecta, Recurrent aphthous stomatitis OMIM:612782
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79411
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Hypospadias, Enamel hypoplasia, Elb... OMIM:210600
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Pseudoxanthoma Elasticum, Forme Fruste
High palate, Medial calcification of medium-sized arteries, High, narrow palate, Cerebral hemorrh... OMIM:177850
Acrofacial Dysostosis, Catania Type
Hypospadias, Carious teeth OMIM:101805
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... OMIM:226600
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Basal ganglia calcification,... OMIM:164200
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Usher Syndrome
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:886
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administration ORPHA:94089
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Hernia, Mucopolysacchari... ORPHA:582
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Hypophosphatasia, Childhood
Elevated urine pyrophosphate, Premature loss of primary teeth, Phosphoethanolaminuria, Carious teeth OMIM:241510
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Dysosteosclerosis
Cerebral calcification, Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental ena... ORPHA:1782
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Microdontia, Widely spaced teeth, Proteinuria, Hypoplasia of teeth, Multiple bladde... ORPHA:2728
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
49,Xxxxy Syndrome
Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Delayed eruption of teeth, Carious tee... ORPHA:96264
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Unilateral renal agenesis, Enamel hypoplasia, Patent ductus arteriosus, Proximal tu... OMIM:614576
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth, Nephrotic syndrome, Proteinuria ORPHA:839
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognathia, Micrognathia, H... ORPHA:2409
Knobloch Syndrome 2
Micrognathia, Abnormal pulmonary interstitial morphology, Enamel hypoplasia, Patent ductus arteri... OMIM:618458
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Stroke, Hypodontia, Nephrotic range proteinuria, Nep... ORPHA:1830
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Calcification of the small brain vessels, Limb joint contracture, Dense calcifications in the cer... OMIM:114100
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Supernumerary tooth, Micropenis, Hypospadias, Diastema, Microdontia OMIM:619718
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Catifa Syndrome
Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt... OMIM:618761
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Generalized aminoaciduria, Delayed eruption of teeth OMIM:264700
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth ORPHA:2501
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Abnormal vascular morphology, Arterial calcification, Arterial tor... ORPHA:289601
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... ORPHA:363417
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... OMIM:613684
Andersen-Tawil Syndrome
High palate, Renal tubular dysfunction, Persistence of primary teeth, Abnormality of the dentitio... ORPHA:37553
Junctional Epidermolysis Bullosa With Pyloric Atresia
Oral mucosal blisters, Ureterocele, Urethral stricture, Hematuria, Enamel hypoplasia, Hydronephro... ORPHA:79403
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Cereb... OMIM:259775
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Mandibular prognathia, Malar flattening, Abnormal dental enamel morphology ORPHA:2180
Specific Granule Deficiency 2
Amelogenesis imperfecta, Recurrent pneumonia, Conical tooth, Tooth malposition OMIM:617475
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Nephronophthisis, Long philtrum, Delayed eruption of teeth, Polycystic... OMIM:184260
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth OMIM:613849
Mucopolysaccharidosis, Type Iva
Wide mouth, Chondroitin sulfate excretion in urine, Inguinal hernia, Recurrent upper respiratory ... OMIM:253000
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Supernumerary tooth, High, narrow palate, Micrognathia, Delayed e... ORPHA:2980
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Hypodontia, Flexion contracture, Carious teeth OMIM:612079
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten... OMIM:170390
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Midshaft hypospadias, Micrognathia, Camptodactyly of finger, Delayed... ORPHA:2863
Hypophosphatemic Rickets
Renal phosphate wasting, Periapical tooth abscess, Calcification of the aorta, Abnormality of the... ORPHA:437
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattening, Micropenis, ... ORPHA:364028
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Thick vermilion border, Abnor... ORPHA:2107
Codas Syndrome
Abnormality of dental morphology, Hydroureter, Delayed eruption of teeth, Abnormal dental enamel ... ORPHA:1458
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth OMIM:277440
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Abnormality o... ORPHA:3253
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Bone Marrow Failure Syndrome 3
Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis imperfecta OMIM:617052
Scarf Syndrome
Inguinal hernia, Micropenis, Long philtrum, Enamel hypoplasia, Umbilical hernia, Perineal hypospa... OMIM:312830
Cockayne Syndrome Type 1
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Basal ganglia ... ORPHA:90321
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Short philtrum, Abnormality of the uret... ORPHA:819
Xfe Progeroid Syndrome
Corneal scarring, Premature loss of teeth, Enamel hypoplasia, Absence of subcutaneous fat, Protei... OMIM:610965
Rare Circulatory System Disease
Arterial calcification, Abnormal systemic arterial morphology, Arterial tortuosity, Elbow flexion... ORPHA:98028
Growth Hormone Insensitivity Syndrome
Hypoplasia of penis, Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181393
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Flexion contracture, Micrognathia, Loss of tr... OMIM:608612
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Horseshoe kidney, Pericardial lymphangiectasia, Umbilical hernia, Retr... OMIM:235510
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth ORPHA:1811
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Kohlschutter-Tonz Syndrome-Like
Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced teeth, Yellow-brown di... OMIM:619229
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis, Nephronophthisis, Everted lower lip vermilion, Micrognathia... OMIM:614099
Calciphylaxis
Cellulitis, Arterial calcification, Stage 5 chronic kidney disease ORPHA:280062
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion ORPHA:181
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Bifid uvula, Abnormality of the dentition OMIM:615802
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Detrusor sphincter dyssynergia,... ORPHA:466722
Arterial Calcification, Generalized, Of Infancy, 1
Periarticular calcification, Carotid artery calcification, Generalized arterial calcification, Ar... OMIM:208000
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Oculotrichodysplasia
Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t... OMIM:257960
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis,... OMIM:248190
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Nephrocalcinosis OMIM:240300
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Recurrent respiratory infections, Congenital pulmonary airway malformation, Om... OMIM:243150
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypospadias, Microdontia, Enamel hypoplasia, Moyamoya phenomenon, Dilatation of the... OMIM:210720
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Generalized aminoaciduria, Delayed eruption of teeth ORPHA:289157
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ... OMIM:311200
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Basal ganglia calcificati... ORPHA:90324
Ellis Van Creveld Syndrome
Hypodontia, Thin vermilion border, Abnormality of the dentition, Abnormality of the ureter, Hypos... ORPHA:289
Dysostosis, Stanescu Type
Tooth agenesis, Macroglossia, Cerebral calcification, Abnormality of the dentition, Carious teeth... ORPHA:1798
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena... ORPHA:2916
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Nephrocalcinosis OMIM:614473
Hamamy Syndrome
High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm... OMIM:611174
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Moderate albumin... OMIM:619269
Orofacial Cleft 15
Palate fistula, Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate OMIM:616788
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primary teeth, Thin ... ORPHA:438216
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Mandibuloacral Dysplasia
High palate, Dental crowding, Increased adipose tissue around the neck, Lipoatrophy, Micrognathia... ORPHA:2457
Kilquist Syndrome
Wide mouth, Hypoplasia of teeth, Mandibular prognathia OMIM:619080
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Sanjad-Sakati Syndrome
Hypoplasia of penis, Thin vermilion border, Abnormality of the dentition, Micrognathia, Long phil... ORPHA:2323
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Hematuria, Vasculitis, Renal insufficiency, Proteinuria ORPHA:375
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Hypospadias, Microdontia, Delayed eruptio... OMIM:619736
Chronic Mucocutaneous Candidiasis
Cheilitis, Recurrent respiratory infections, Hematuria, Abnormal lip morphology, Abnormal dental ... ORPHA:1334
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Cario... OMIM:613680
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Oligodontia, Supernumerary tooth ORPHA:1264
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Aortic aneurysm OMIM:166200
Hypophosphatasia, Adult
Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth OMIM:146300
Short Syndrome
Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno... ORPHA:3163
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Corneodermatoosseous Syndrome
Gingivitis, Abnormal dental enamel morphology, Carious teeth ORPHA:3194
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta, Pneumonia ORPHA:169090
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, Ab... ORPHA:251004
Cole-Carpenter Syndrome
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2050
Laron Syndrome
Tooth agenesis, Hypoplasia of penis, Micrognathia, Delayed eruption of teeth, Microdontia ORPHA:633
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Hydronephrosis, Thick l... OMIM:619797
Oculodentodigital Dysplasia
Tooth agenesis, Taurodontia, Cleft palate, Cerebral calcification, Micrognathia, Camptodactyly of... ORPHA:2710
Tooth Agenesis, Selective, 4
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Peg-shaped maxillary l... OMIM:150400
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Mala... OMIM:154780
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Micrognathia, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mou... ORPHA:391408
Congenital Disorder Of Glycosylation, Type Iim
High palate, Vesicovaginal fistula, Short philtrum, Enamel hypoplasia, Ureteropelvic junction obs... OMIM:300896
Nail-Patella Syndrome
Nephrotic syndrome, Nephritis, Flexion contracture, Contracture of the distal interphalangeal joi... ORPHA:2614
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft lip and palate, Conical tooth, Carious teeth ORPHA:1997
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Porphyria, Congenital Erythropoietic
Corneal scarring, Erythrodontia, Joint contracture of the hand, Atypical scarring of skin, Pink u... OMIM:263700
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Cleidocranial Dysplasia 1
High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten... OMIM:119600
Eec Syndrome
Tooth agenesis, Taurodontia, Urethral atresia, Cleft palate, Hypospadias, Microdontia, Carious te... ORPHA:1896
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Stomatitis, Cerebral calcification, Recurrent aphthous stomatitis OMIM:212750
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Osteogenesis Imperfecta, Type X
Nephrolithiasis, Dentinogenesis imperfecta, Inguinal hernia, Malar flattening, Micrognathia OMIM:613848
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Immunodeficiency 49
Micrognathia, Short philtrum, Natal tooth, Umbilical hernia, Pulmonary artery stenosis OMIM:617237
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Arteriovenous malformation, Hypoplasia of the zygomatic bone, Downturned corners of... ORPHA:1110
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Tuberous Sclerosis 1
Cerebral calcification, Renal angiomyolipoma, Gingival fibromatosis, Shagreen patch, Renal cyst, ... OMIM:191100
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short philtrum, Hypospadias, Long philtrum, Hypoplasia of the max... ORPHA:439822
Cleidocranial Dysplasia
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor... ORPHA:1452
Cenani-Lenz Syndrome
Hypodontia, Malar flattening, High, narrow palate, Short philtrum, Crossed fused renal ectopia, A... ORPHA:3258
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
3M Syndrome
Everted lower lip vermilion, Hypospadias, Long philtrum, Delayed eruption of teeth, Abnormal cere... ORPHA:2616
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cleft palate, Inguinal hernia, Retrognathia, Microdontia, Hypoplasia of the ... ORPHA:1812
Pallister W Syndrome
Agenesis of central incisor, Joint contracture of the hand, Camptodactyly, Broad uvula, Agenesis ... OMIM:311450
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Joint contracture of the hand, Cleft palate, Oligodontia, Oral cleft, Camptodact... OMIM:601701
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Micrognathia, Microdontia, Enamel hypoplasia, Bilateral camptod... OMIM:619777
Pseudohypoparathyroidism Type 1C
Choroid plexus calcification, Basal ganglia calcification, Cerebral calcification, Delayed erupti... ORPHA:79444
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Seckel Syndrome
Micrognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:808
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Ab... ORPHA:2063
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Hypodontia, Agenesis of permanent teeth, Smooth tongue, Abnormality ... OMIM:257980
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, A... ORPHA:1505
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Everted lower li... OMIM:618342
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Enamel hypomineralization, Renal tubular dysfunction OMIM:307800
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm... ORPHA:96169
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Abnormal renal physiology, Cerebral calcification, Subcortic... ORPHA:191
Oslam Syndrome
Carious teeth ORPHA:2760
Dyskeratosis Congenita
Periodontitis, Taurodontia, Hypodontia, Cerebral calcification, Abnormality of the dentition, Car... ORPHA:1775
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Hypospadias, Thick vermilion ... OMIM:603463
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188