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Gene: Src MGI:98397

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Gene Summary

Name:
Rous sarcoma oncogene
Synonyms:
pp60c-src

Order Alleles

IMPC Data Collections

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
abnormal femur morphology Srctm2a(EUCOMM)Wtsi HET Early adult 8.57×10-05
decreased mean corpuscular hemoglobin Srctm2a(EUCOMM)Wtsi HET Early adult 4.67×10-05
increased circulating amylase level Srctm2a(EUCOMM)Wtsi HET Early adult 4.23×10-06

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
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 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.

Legacy Phenotype Associated Images
Srctm2a(EUCOMM)Wtsi
head, HET, Male, WTSI
Srctm2a(EUCOMM)Wtsi
head, HET, Male, WTSI
Srctm2a(EUCOMM)Wtsi
head, HET, Male, WTSI
Srctm2a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Srctm2a(EUCOMM)Wtsi
head, HET, Female, WTSI

View all 85 images

Srctm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Srctm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Colorectal Cancer
OMIM:114500

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Abnormality of the nail, Obliteration of the calvarial diploe, Taurodontia, F... ORPHA:3352
Nondisjunction
Decreased fertility OMIM:158250
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Torus palatinus, Osteopetrosis, Generalized osteosclerosis, Thickened calvaria, ... OMIM:607634
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Dela... OMIM:600002
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Large fontanelles, Increased bone mineral density, Spina bifida occulta, Abnorm... ORPHA:2780
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Carious teeth, Delayed eru... OMIM:265800
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Pyle Disease
Genu valgum, Limited elbow extension, Delayed eruption of teeth, Carious teeth, Mandibular progna... OMIM:265900
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Chronic rhinitis due to narrow nasal airway, Mandibular prognathia, R... OMIM:259710
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Craniometaphyseal Dysplasia
Abnormality of the metaphysis, Osteopetrosis, Craniofacial hyperostosis, Telecanthus ORPHA:1522
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure to thrive in infancy, Tooth age... ORPHA:2645
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Frontal bossing, Femur fracture, Osteopetrosis, Increased bone m... OMIM:259700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Frontal bossing, Dolichocephaly, Increased bone mineral de... OMIM:190320
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Narrow mout... OMIM:311300
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus, Generalized osteosclerosis, Ab... ORPHA:2790
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Marbach-Rustad Progeroid Syndrome
Wormian bones, Delayed eruption of primary teeth, Narrow mouth, Femur fracture, Midface retrusion... OMIM:619322
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Frontal bossing, Camptodactyly, Agenesis of maxillary... OMIM:311450
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Ataxia, Gingival ... ORPHA:2026
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Tibiofibular diast... ORPHA:566943
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Gómez-López-Hernández Syndrome
Thin vermilion border, Midface retrusion, Ataxia, Brachycephaly, Impaired pain sensation, Cogniti... ORPHA:1532
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Large fontanelles, Mandibular prognathia, Abnormality of the m... ORPHA:2658
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Thin calvarium, Micrognathia, High palate, Curly hair, Inc... ORPHA:85184
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Generali... OMIM:613849
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Aplasia of the distal phalanx of the 5th finger, Corneal opacity, Exaggerated cupid'... ORPHA:364577
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Large fontanelles, Ma... ORPHA:1452
Mohr Syndrome
Wormian bones, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongu... OMIM:252100
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... ORPHA:90650
W Syndrome
Radial bowing, Camptodactyly, Agenesis of maxillary central incisor, Hypoplasia of the ulna, Uppe... ORPHA:2804
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Orofacial Cleft 15
Agenesis of lateral incisor, Sparse eyebrow, Midface retrusion, Upslanted palpebral fissure, Bila... OMIM:616788
Pycnodysostosis
Wormian bones, Narrow palate, Persistent open anterior fontanelle, Ridged nail, Short distal phal... ORPHA:763
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Carious teeth, Subperiosteal bone resorption, Delayed erupt... OMIM:277440
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Delayed eruption of teeth, Short phalanx of fing... OMIM:612350
Trisomy 9P
Abnormal pupil morphology, Hypoplastic toenails, Impacted tooth, Downturned corners of mouth, Den... ORPHA:236
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... ORPHA:2501
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Wormian bones, Sparse hair, Thin calvarium, Mid... OMIM:601812
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... OMIM:136300
Ck Syndrome
Slender build, Joint hypermobility, Almond-shaped palpebral fissure, Dental crowding, Upslanted p... OMIM:300831
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Shallow orbits, Micrognathia, Osteopetrosis, Frontal bossing OMIM:617306
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Narrow mouth, Hypoplasia of teeth, Dent... OMIM:257850
Osteopetrosis, Autosomal Recessive 8
Frontal bossing, Osteopetrosis, Failure to thrive OMIM:615085
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Mandibular prognathia, ... ORPHA:2769
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, To... ORPHA:166277
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Narrow palate, Leukonychia, Ivory epiphyses of the distal phalan... OMIM:190350
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Large fontanelles, Frontal bossing, J... ORPHA:2097
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Wormian bones, Osteolysis, Abnormality of epiphysis morphology, Abnormal cor... ORPHA:970
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Anterior plagiocephaly, Incre... ORPHA:163649
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Increased bone mineral density, Broad jaw, Brachycephaly ORPHA:178377
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger, Sparse hair, Dental crowdin... OMIM:190351
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Eruption f... OMIM:273050
Pseudopseudohypoparathyroidism
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short metatarsal, Cataract, Short met... OMIM:612463
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Wormian bones, Wide anterior fontanel, Dental crowding, Broad long bo... OMIM:269300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resorption, M... OMIM:264700
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Cone-shaped epiphysis, Dentinogenesis im... ORPHA:71267
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Bipolar affective disorder, Thin vermilion border, Craniosynostosis, Wide anterior... OMIM:601853
Temple-Baraitser Syndrome
Broad thumb, Open mouth, Short phalanx of the thumb, Short distal phalanx of finger, High palate,... ORPHA:420561
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Frank-Ter Haar Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Short philtrum, Acne, Mandibular ... ORPHA:137834
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Tremor, T... ORPHA:10
Momo Syndrome
Eyelid coloboma, Downslanted palpebral fissures, High palate, Femoral bowing, Obesity, Long philt... ORPHA:2563
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Hip dysplasia, Narrow palate, Abnormal palate morphology, Tooth agenesis, Plagiocephaly, Abnormal... ORPHA:2063
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Midface retrusion, Decreased calvarial o... ORPHA:313855
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Desmosterolosis
Narrow mouth, Frontal bossing, Micromelia, Epicanthus, Osteopetrosis, Increased bone mineral dens... ORPHA:35107
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Long philtrum, Delayed eruption of teeth, Short phalanx of fin... OMIM:184260
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Bloom Syndrome
Hand polydactyly, Agenesis of maxillary lateral incisor, Bronchiectasis, Spotty hypopigmentation,... OMIM:210900
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Hirsutism, Corneal... OMIM:259600
Non-Distal Trisomy 10Q
Frontal bossing, Everted lower lip vermilion, Brachycephaly, Cognitive impairment, High palate, M... ORPHA:1695
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Osteopetrosis, Flared metaphysis, Gingival overgrowth, Micrognathia OMIM:259720
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Poor eye contact, Ataxia, Hyperactivity, High palate, Retrognathia OMIM:300983
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Hallermann-Streiff Syndrome
Joint hypermobility, Thin vermilion border, Wormian bones, Narrow palate, Narrow mouth, Natal too... OMIM:234100
Rothmund-Thomson Syndrome
Skin rash, Carious teeth, Abnormal dental enamel morphology, Sparse eyebrow, Hypoplasia of teeth,... ORPHA:2909
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Carious teeth, Amelogenesis imperfecta, Microretrognathia, Pierre-Robin sequence, Hi... OMIM:618363
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Aplasia of the 1st metacarpal, Congenital ptosis, Slanting of the palpebral fissur... ORPHA:476126
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Upslanted palpebral fissure, Down-sloping shoulders, Recurrent fractures, Brac... ORPHA:91133
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... OMIM:601668
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Frontal bossing, Abnormality of epiphysis morphology, Recurrent fract... ORPHA:53
Dysosteosclerosis
Oligodontia, Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to... OMIM:224300
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Upslanted palpebral f... ORPHA:1133
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Skin rash, Craniosynostosis, Frontal bossing, Eczematoid dermatitis, Recurre... OMIM:147060
Gapo Syndrome
Joint hypermobility, Keratoconus, Sparse eyebrow, Sparse hair, Thick lower lip vermilion, Breast ... OMIM:230740
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Joint hypermobility, Thin vermilion border, Long philtrum, ... OMIM:614856
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Flared... OMIM:215045
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... ORPHA:210110
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Mottled pigmentation, Large fontanelles, Abnormal cortical bone ... ORPHA:1525
Muenke Syndrome
Broad thumb, Thimble-shaped middle phalanges of hand, Downslanted palpebral fissures, High palate... OMIM:602849
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Micrognathia, Trigonocephaly, Prominent metopic ridge OMIM:275595
4H Leukodystrophy
Dysdiadochokinesis, Delayed eruption of teeth, Tremor, Dystonia, Drooling, Progressive gait ataxi... ORPHA:289494
48,Xxxy Syndrome
Abnormal aggressive, impulsive or violent behavior, Open bite, Carious teeth, Abnormal dental ena... ORPHA:96263
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, High, narr... ORPHA:3238
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Low anterior hairline, Abnormality of the mouth, Low pos... ORPHA:73272
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Coxa vara, Avascular nec... ORPHA:93308
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Craniosynostosis, Short distal phalanx of finger, Abnormality ... ORPHA:1515
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Flexion contracture, Recurrent fractures, ... ORPHA:1306
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis OMIM:618476
Familial Expansile Osteolysis
Osteolysis, Bowing of the long bones, Fragile teeth, Pathologic fracture, Thin bony cortex, Prema... OMIM:174810
Melnick-Needles Syndrome
Delayed eruption of teeth, Tooth malposition, Frontal bossing, Craniofacial hyperostosis, Joint h... ORPHA:2484
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Craniosynostosis, Abnormality of epiphysis morphology, Bowing of the l... ORPHA:667
Dysostosis, Stanescu Type
Wormian bones, Carious teeth, Massively thickened long bone cortices, Abnormal dental enamel morp... ORPHA:1798
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Thin vermilion border, Carious teeth, Hypoplasia of teeth, Larg... ORPHA:50814
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Midface retrusion, Limb undergr... OMIM:118651
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Abnorm... ORPHA:2107
Rothmund-Thomson Syndrome, Type 2
Sparse eyebrow, Congenital hip dislocation, Hypoplasia of teeth, Premature graying of hair, Mandi... OMIM:268400
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Dental malocclusion, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Hypochondroplasia
Limited elbow extension, Frontal bossing, Malar flattening, Short long bone, Flared metaphysis, G... OMIM:146000
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared metaphysis, Delay... OMIM:601561
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Thin vermilion border, Narrow mouth, Dental crowding, Absent eyebrow, Wei... ORPHA:740
Teebi Hypertelorism Syndrome
Highly arched eyebrow, Long philtrum, Craniosynostosis, Frontal bossing, Dental crowding, Upslant... OMIM:145420
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Club-shaped distal femur, Patchy sclerosis of finger phalanx, Metaphyseal ... OMIM:218400
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Weismann-Netter Syndrome
Squared iliac bones, Delayed eruption of permanent teeth, Fibular bowing, Calvarial hyperostosis,... OMIM:112350
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Frontal bossing, No social interaction, Irritability, Brachycephaly OMIM:264470
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resorption, Frontal bossing, Ric... ORPHA:289157
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Developmental cataract, Tooth malposition, Camptodactyl... OMIM:618761
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Frontal bossing, Re... OMIM:600081
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Wormian bones, Abnormality of the philtrum, Tooth agenesis, Broad alve... ORPHA:2863
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Self-injurious behavior, Brachycephaly, Aggressive behavior OMIM:300699
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc... OMIM:271530
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
2Q32Q33 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Oligodontia, Aggressive behavior, Narrow mouth, Dental crow... ORPHA:251019
Leukocyte Adhesion Deficiency, Type Iii
Recurrent skin infections, Osteopetrosis OMIM:612840
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Multiple impacted teet... OMIM:113300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Adenylosuccinate Lyase Deficiency
Long philtrum, Flat occiput, Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Prominent ... ORPHA:46
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Abnormality of epiphysis morphology, Midface retrusion, J... ORPHA:628
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... ORPHA:1782
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Midface retrusion, Metaphyseal dysplasia, Fa... OMIM:614727
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Short distal phalanx of finger, Spina bifida oc... ORPHA:949
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Weight loss, Ataxia, Bradykinesia, Progressi... ORPHA:248111
Brachydactyly, Type B1
Broad thumb, Wide anterior fontanel, Anonychia, Short middle phalanx of finger, Aplasia/Hypoplasi... OMIM:113000
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short philtrum, Aggressive behavior, Open mouth, Everted lower lip vermilion, Smooth philtrum, De... OMIM:618342
Adenylosuccinase Deficiency
Self-mutilation, Long philtrum, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressiv... OMIM:103050
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Frontometaphyseal Dysplasia 1
Hirsutism, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Downslan... OMIM:305620
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Odontochondrodysplasia
Delayed eruption of teeth, Frontal bossing, Square pelvis bone, Joint hyperflexibility, Bowing of... ORPHA:166272
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Opacification of the c... OMIM:180900
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Tremor, S... ORPHA:96264
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormal cortical bone morphology, Increas... ORPHA:2204
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Short finger, Thick... OMIM:103580
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Synophrys, Persistenc... OMIM:228560
Aarskog-Scott Syndrome
Oral cleft, Megalocornea, Downslanted palpebral fissures, Hypoplasia of the maxilla, Long philtru... ORPHA:915
Mental Retardation, Autosomal Dominant 29
Narrow palate, Dental crowding, Thin upper lip vermilion, Brachycephaly, High palate, Attention d... OMIM:616078
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Delayed eruption of teeth, Abnormality of the dentition, Thick ... ORPHA:2222
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Zimmermann-Laband Syndrome
Joint hypermobility, Generalized hyperpigmentation, High palate, Downslanted palpebral fissures, ... ORPHA:3473
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Chorea, Weight loss, Action tremor, Bradykinesia, Irritab... OMIM:606438
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Narrow mouth, Drooling, Depression, Anxiety, Failure to thrive, B... DECIPHER:45
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Large fontanelles, Mandibula... OMIM:259775
Singleton-Merten Syndrome 1
Osteoporosis, Genu valgum, Carious teeth, Hip subluxation, Expanded metacarpals with widened medu... OMIM:182250
Rothmund-Thomson Syndrome Type 2
Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synostosis involving b... ORPHA:221016
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Enlarged epiphyses, Midface... OMIM:269880
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Sparse hair, Frontal bossing, Everted lower lip vermilion, Short dista... ORPHA:181
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hallermann-Streiff Syndrome
Narrow mouth, Natal tooth, High, narrow palate, Micrognathia, Abnormality of the tongue, Uveitis,... ORPHA:2108
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Coffin-Lowry Syndrome
Narrow palate, Open mouth, Short distal phalanx of finger, Downslanted palpebral fissures, High p... ORPHA:192
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida ... OMIM:201000
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxity, Clinodac... OMIM:170390
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Small for... OMIM:101800
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Tarsal synostosis, Block vertebrae, Limited elbow extension, Abnormality of re... OMIM:272460
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Short philtrum, Impaired pain sensation, Open mouth, Taurodont... ORPHA:819
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Oxycephaly, Short 1st metacarpal, Natal tooth, Metatarsus adduc... OMIM:201050
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Abnormality of the nail, Hypoplastic sweat glands, Natal tooth, Hypodontia, Sparse s... OMIM:601345
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Narrow palate, Hypoplastic frontal sinuses, Persistent open ant... OMIM:119600
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Rothmund-Thomson Syndrome Type 1
Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Alopecia totalis, Smal... ORPHA:221008
Gapo Syndrome
Long philtrum, Delayed eruption of teeth, Keratoconus, Frontal bossing, Palpebral edema, Midface ... ORPHA:2067
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Talipes equinovarus, Dental crowding, Cam... OMIM:616354
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Blepharophimosis, Poliosis, Patchy alopecia, Short ma... OMIM:141300
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Trichorhinophalangeal Syndrome Type 1 And 3
Camptodactyly of finger, Long philtrum, Short metatarsal, Sparse hair, Frontal bossing, Micrognat... ORPHA:77258
Diastrophic Dysplasia
Costal cartilage calcification, Talipes equinovarus, Hitchhiker thumb, Short finger, Irregular ep... OMIM:222600
Smith-Magenis Syndrome
Self-mutilation, Impaired pain sensation, Midface retrusion, Mandibular prognathia, Abnormality o... OMIM:182290
Oculofaciocardiodental Syndrome
Oligodontia, Flexion contracture of the 2nd toe, Iris coloboma, Solitary median maxillary central... ORPHA:2712
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Oligodontia, Low anterior hairline, Abnormal eyelid morphology, Sparse hair... ORPHA:1787
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Proteus Syndrome
Open mouth, Dolichocephaly, Ptosis, Mandibular hyperostosis, Thin bony cortex, Downslanted palpeb... OMIM:176920
Craniofrontonasal Dysplasia
Craniosynostosis, Broad hallux phalanx, Widow's peak, Ridged fingernail, Sandal gap, Oral cleft, ... ORPHA:1520
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Ataxia, Hypodontia OMIM:615905
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Clark-Baraitser syndrome
Genu valgum, Joint laxity, Frontal bossing, Maxillary lateral incisor microdontia, Prominent medi... OMIM:300602
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Cataract, Short met... OMIM:612462
Elsahy-Waters Syndrome
Mandibular prognathia, Megalocornea, Downslanted palpebral fissures, High palate, Broad philtrum,... OMIM:211380
Insulin-Like Growth Factor I Deficiency
Micrognathia, Decreased body weight, Hyperactivity OMIM:608747
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Blepharophimosis, Finger synda... OMIM:264475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Craniolenticulosutural Dysplasia
Carious teeth, Delayed closure of the anterior fontanelle, Joint laxity, Hypoplasia of teeth, Coa... OMIM:607812
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
2Q23.1 Microdeletion Syndrome
Open mouth, Self-injurious behavior, Everted lower lip vermilion, Tented upper lip vermilion, Ata... ORPHA:228402
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Wide mouth, Thick upper lip vermilion, Brachycephaly, Thick lower lip verm... OMIM:309545
Chromosome 3Q29 Deletion Syndrome
Short philtrum, Gait ataxia, Aggressive behavior, Thin upper lip vermilion, Small for gestational... OMIM:609425
Greenberg Dysplasia
Abnormal bone ossification, Calvarial skull defect, Rhizomelia, Anterior rib punctate calcificati... ORPHA:1426
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Postaxial hand polydactyly, Small nail, Hypoplastic toenails, Abnormality of... ORPHA:952
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Pitt-Hopkins Syndrome
Esophagitis, Short philtrum, Failure of eruption of permanent teeth, Short metatarsal, Tooth malp... ORPHA:2896
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Chime Syndrome
Corneal opacity, Aplastic clavicle, Osteolysis, Abnormality of dental morphology, Upslanted palpe... ORPHA:3474
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly, Ataxia ORPHA:404493
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocation, Abnorma... ORPHA:1458
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Retrognathia, Brachycephaly, Narrow mouth ORPHA:2528
Frank-Ter Haar Syndrome
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Megalocornea, Cortica... OMIM:249420
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Frontal bossing, Hy... OMIM:241530
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Abnormal cartilage morpho... ORPHA:93284
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Peters-Plus Syndrome
Thin vermilion border, Craniosynostosis, Short metatarsal, Joint laxity, Agenesis of maxillary la... OMIM:261540
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hyperactivity, Decreased body weight, Brachycephaly, Cleft upper lip, Cleft ... OMIM:300958
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Abnormality iris morphology, Mandibular prognat... ORPHA:2710
X-Linked Intellectual Disability Due To Gria3 Mutations
Self-mutilation, Slender build, Short philtrum, Narrow palate, Aggressive behavior, Open mouth, P... ORPHA:364028
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Large fontanelles, Everted lower lip vermili... ORPHA:181393
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Char Syndrome
Short philtrum, Hand polydactyly, Toe syndactyly, Symphalangism of the 5th finger, Supernumerary ... ORPHA:46627
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Downturned corners of mouth, Open mouth, Midface retrusion, Frontal bossing,... OMIM:618430
Atkin-Flaitz Syndrome
Genu valgum, Joint laxity, Frontal bossing, Maxillary lateral incisor microdontia, Prominent medi... OMIM:300431
Acrootoocular Syndrome
Grayish enamel, Sandal gap, Small for gestational age, Hyperpigmented nevi, Downslanted palpebral... ORPHA:2980
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Wormian bones, Frontal bossing, Mid... ORPHA:2050
Sponastrime Dysplasia
Congenital aphakia, Hip subluxation, Joint laxity, Metaphyseal irregularity, Hypoplasia of the na... ORPHA:93357
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Tarsal synostosis, Cone-shaped epiphysis, Short ... ORPHA:53271
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Oligodontia, Short finger, Short metacarpal, Supernumerary toot... OMIM:191482
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Chromosome 2Q37 Deletion Syndrome
Aggressive behavior, Midface retrusion, Pain insensitivity, Self-injurious behavior, Brachycephal... OMIM:600430
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hi... OMIM:605282
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Skin rash, Craniosynostosis, Abnormal hair morphology, Joint hyperflex... ORPHA:2314
Pierpont Syndrome
Thin vermilion border, Unilateral narrow palpebral fissure, Narrow palpebral fissure, Broad philt... OMIM:602342
Lowry-Maclean Syndrome
Osteoporosis, Delayed eruption of primary teeth, Craniosynostosis, Talon cusp, Downturned corners... ORPHA:2409
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Low anterior hairline, Downturned corners of mouth, Hirsutism, Long eyelas... OMIM:300590
Sotos Syndrome 1
Genu valgum, Narrow palate, Joint laxity, Small nail, Frontal bossing, Mandibular prognathia, Hig... OMIM:117550
Chromosome 5P13 Duplication Syndrome
Short philtrum, Craniosynostosis, Sparse hair, Blepharophimosis, Frontal bossing, Upslanted palpe... OMIM:613174
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Coffin-Siris Syndrome 10
Clinodactyly, Epicanthus, Wide mouth, Persistence of primary teeth OMIM:618506
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Depression, Difficulty walking, Excessive salivati... ORPHA:255
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Pierpont Syndrome
Thin vermilion border, Joint laxity, Broad philtrum, Widely spaced teeth, Short finger, Narrow pa... ORPHA:487825
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of retinal pigmentation, Sparse hair, Short 5th metacarpal, Abnormality ... ORPHA:1264
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Frontal bossing, Midface retrusion, Joint hyperflexibility, Mandibular prognathia, 2-3 toe syndac... ORPHA:2324
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachycephaly, Cleft palate, Cognitive impairment, Micrognathia, Malar flatteni... ORPHA:2145
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Delayed closure of the ante... OMIM:614008
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Coffin-Siris Syndrome 3
Macroglossia, Sparse hair, Aplasia/Hypoplasia of the distal phalanges of the hand, Hirsutism, Lon... OMIM:614608
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Mandibular prognathia, Natal tooth, Thick verm... OMIM:601957
3M Syndrome
Rocker bottom foot, Abnormal dental enamel morphology, Long philtrum, Delayed eruption of teeth, ... ORPHA:2616
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Midface retrusion, Abnormality of the dentition, Short distal phalanx of finger, Hypo... ORPHA:2776
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Wormian bones, Increased body weight, Increased body mas... OMIM:614450
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gait ataxia, Dental crowding, Spastic gait, Brachycephaly, Dysmetria OMIM:615031
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Long philtrum, Narrow mouth, Aggressive behavior, Mesiodens, Abnormal social behavior, Ataxia, Un... ORPHA:314647
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Large fontanelles, Flared iliac wing, Hypoplastic f... ORPHA:90652
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Delayed closure of the anterior fontanelle, Wormian bones... OMIM:604922
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Macroglossia, Aggressive behavior, Downturned corners of mouth, Open mouth, Mid... ORPHA:369891
Osteopoikilosis And Dacryocystitis
Osteopoikilosis, Dacryocystitis OMIM:166705
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Desanto-Shinawi Syndrome
Aggressive behavior, Downturned corners of mouth, Midface retrusion, Thin upper lip vermilion, An... OMIM:616708
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Truncal obesity, Short toe, Microdontia, Micrognathia,... ORPHA:633
X-Linked Non-Syndromic Intellectual Disability
Shortening of all distal phalanges of the fingers, Long philtrum, Clinodactyly of the 2nd toe, De... ORPHA:777
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Elb... OMIM:601559
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Frontal bossing, Short sternum, Epicanthus... OMIM:157980
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Gait ataxia, Brachycephaly, Dysmetria, Dental crowding ORPHA:320385
Cornelia De Lange Syndrome 5
Long philtrum, Thin vermilion border, Downturned corners of mouth, Truncal obesity, Brachycephaly... OMIM:300882
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Small for gestational age, Brachycephaly, Hypoplasi... ORPHA:93950
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Bowing of the long bones, Recurrent fractures, ... OMIM:617952
Incontinentia Pigmenti
Abnormality of skin pigmentation, Absent hand, Abnormal dental enamel morphology, Skin rash, Irre... ORPHA:464
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Joint laxity, Everted lower lip vermilion, Narrow palp... OMIM:615873
Blomstrand Lethal Chondrodysplasia
Long philtrum, Abnormality of epiphysis morphology, Synostosis of joints, Rhizomelia, Bowing of t... ORPHA:50945
Apert Syndrome
Narrow palate, Large fontanelles, Mandibular prognathia, Downslanted palpebral fissures, Shallow ... OMIM:101200
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Abnormal hair morphology, Metaphyseal cupping of metacarp... OMIM:250460
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Sparse eyebrow, Joint laxity, Narrow palpebral fissure, Short distal phalanx o... OMIM:619293
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Aplasia/hypoplasia involving bones of the extremities, Delayed ossification of car... ORPHA:93346
Coffin-Siris Syndrome 8
Aggressive behavior, Self-injurious behavior, Thin upper lip vermilion, Failure to thrive, Hypera... OMIM:618362
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Oligodontia, Frontal bossing, Micrognathia, Narrow palpebral fissure, Decr... OMIM:600325
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemi... ORPHA:289176
Stickler Syndrome
Open bite, Abnormal dental enamel morphology, Micrognathia, Osteoarthritis, Hypoplasia of the max... ORPHA:828
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Craniosynostosis, Finger syndactyly, ... ORPHA:3210
Menkes Disease
Osteoporosis, Wormian bones, Joint laxity, Sparse hair, Brachycephaly, Metaphyseal widening, Meta... OMIM:309400
Xq25 Microduplication Syndrome
Mandibular prognathia, Thick vermilion border, Anxiety, Hyperactivity, Malar flattening ORPHA:521258
Acromicric Dysplasia
Long philtrum, Short phalanx of finger, Narrow mouth, Deep philtrum, Cone-shaped epiphysis, Long ... OMIM:102370
Xq25 Duplication Syndrome
Mandibular prognathia, Thick vermilion border, Anxiety, Hyperactivity, Malar flattening OMIM:300979
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Carpal bone hypoplasia, Long ... OMIM:603546
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Narrow mouth, Drooling, Depression, Midface retrusion, Pain insensitivity, Hig... OMIM:300260
Majeed Syndrome
Pustule, Metaphyseal irregularity, Flexion contracture, Synovitis, Weight loss, Increased bone mi... ORPHA:77297
Melnick-Needles Syndrome
Coarse hair, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phalan... OMIM:309350
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Poor eye contact, Smooth philtrum, Wide mouth, Thin upper lip vermilion, Brachycephaly, Micrognathia OMIM:615419
Multiple Pterygium-Malignant Hyperthermia Syndrome
Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners of mouth, Ridged fingernail,... ORPHA:2215
Schwartz-Jampel Syndrome
Pursed lips, Wormian bones, Arthrogryposis multiplex congenita, Narrow mouth, Odontogenic neoplas... ORPHA:800
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Angelman Syndrome
Macroglossia, Drooling, Progressive gait ataxia, Mandibular prognathia, Flat occiput, Wide mouth,... OMIM:105830
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology, Recurrent pneumonia OMIM:612301
Chst3-Related Skeletal Dysplasia
Genu valgum, Highly arched eyebrow, Long philtrum, Sparse eyebrow, Delayed eruption of teeth, Rhi... ORPHA:263463
Mental Retardation, Autosomal Dominant 26
Short philtrum, Narrow mouth, Wide mouth, Thick vermilion border, Small for gestational age, Brac... OMIM:615834
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Kabuki Syndrome 2
Joint laxity, Natal tooth, Hirsutism, High palate, Prominent fingertip pads, Micrognathia, Recurr... OMIM:300867
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Midface retrusion, Camptodactyly, Broad long bones, Bowing of the long bones, Hirsu... OMIM:224400
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Downturned corners of mouth, Parietal foramina, Epicanthus, Sparse... OMIM:601224
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Short philtrum, Open mouth, Frontal bossing, Epicanthus, Smooth philtrum, Failure to thrive in in... OMIM:616801
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Recurrent ... OMIM:225410
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Postural tremor, Dystonia, Drooling, Positive Romberg sig... ORPHA:447896
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Wide anterior fontanel, Flexion contracture, Epicanthus, Smooth ph... OMIM:263210
Chand Syndrome
Short fifth metatarsal, Commissural lip pit, Agenesis of permanent teeth, Curly hair, Agenesis of... ORPHA:1401
Taurodontism
Taurodontia OMIM:272700
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Cutis Laxa, Autosomal Recessive, Type Iib
Joint hypermobility, Congenital hip dislocation, Large fontanelles, Frontal bossing, Midface retr... OMIM:612940
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Dubowitz Syndrome
Abnormality of skin pigmentation, Craniosynostosis, Broad thumb, Sandal gap, Metatarsus adductus,... ORPHA:235
Potocki-Shaffer Syndrome
Short philtrum, Downturned corners of mouth, Parietal foramina, Epicanthus, Brachycephaly, Decrea... ORPHA:52022
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Thin calvarium, Limb undergrowth, Brachycephaly, Brachyda... OMIM:122900
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Midface retrusion, Agenesis of incisor, Bilateral c... OMIM:610829
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Small epiphyses, Delayed epiphyseal ossification... OMIM:611717
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, San... OMIM:251450
Pachydermoperiostosis
Osteoporosis, Seborrheic dermatitis, Osteolysis, Abnormal fingernail morphology, Abnormality of e... ORPHA:2796
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deep philtrum, Inappropriate laughter, Brachycephaly, Downturned corners of mouth OMIM:618859
Mental Retardation, Autosomal Dominant 45