Gene Summary

Name:
Rous sarcoma oncogene
Synonyms:
pp60c-src

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 mean corpuscular hemoglobin Srctm2a(EUCOMM)Wtsi HET Early adult 4.48×10-05

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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% (3 of 443)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.22% (1 of 446)
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
peripheral nervous system 0.23% (1 of 444)
peyer's patch 0.76% (1 of 132)
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle tissue 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
uterus 0.44% (2 of 459)
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

View all 85 images

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
Myelofibrosis, Osteoporosis 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
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 11
Female infertility OMIM:619643
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Abnormal hair quantity, Periapical tooth abscess, Do... ORPHA:3352
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nondisjunction
Decreased fertility OMIM:158250
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Thickened calvaria, ... OMIM:607634
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Midface retrusion, Thick lower lip vermilion, Long hall... OMIM:600002
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, Cataract, Abnormal metaphysis morphology, Increased bone... ORPHA:2780
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... OMIM:265900
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal ... OMIM:259710
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Craniometaphyseal Dysplasia
Osteopetrosis, Abnormal metaphysis morphology, Craniofacial hyperostosis, Telecanthus ORPHA:1522
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Osteoglosphonic Dysplasia
Abnormal bone ossification, Tooth agenesis, Craniosynostosis, Micrognathia, Brachydactyly, Rhizom... ORPHA:2645
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Os... OMIM:259700
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Joint stiffness, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Dolichocephaly, Fragile nails, Microdontia, Frontal ... OMIM:190320
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Osteoglophonic Dysplasia
High palate, Broad phalanx, Craniosynostosis, Shallow orbits, Downslanted palpebral fissures, Rhi... OMIM:166250
Isolated Osteopoikilosis
Abnormality of femur morphology, Discoid lupus rash, Joint stiffness, Sclerosis of foot bone, Inc... ORPHA:166119
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissures, Sandal gap, Bro... OMIM:311300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Mandibular prognathia, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Man... ORPHA:2790
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... ORPHA:2779
Marbach-Rustad Progeroid Syndrome
Eruption failure, Short clavicles, Narrow mouth, Hypodontia, Reduced bone mineral density, Microg... OMIM:619322
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... ORPHA:1802
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Frontal upsweep of hai... OMIM:311450
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Ataxia, Cognitive impairment, Abnormality of the dentition, Delayed eruption... ORPHA:2026
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Fragmented, irregular ... ORPHA:566943
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Gómez-López-Hernández Syndrome
Ataxia, Cognitive impairment, Thin vermilion border, Impaired pain sensation, Brachycephaly, Midf... ORPHA:1532
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Broad jaw, Bowing of the long bones, T... ORPHA:53697
W Syndrome
Radial bowing, Abnormality of the scalp hair, Camptodactyly, Hypoplasia of the ulna, Downslanted ... ORPHA:2804
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Alopecia, Osteoporosis, Carious teeth, Cataract,... OMIM:136300
Orofacial Cleft 15
Ectropion of lower eyelids, Sparse eyebrow, Sparse eyelashes, Upslanted palpebral fissure, Agenes... OMIM:616788
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Obtuse angle of mandible, Wide anterior fontanel, Parietal bossing, Increased bone m... ORPHA:85184
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Sh... ORPHA:2501
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Abn... ORPHA:2658
Trisomy 9P
Hypoplastic toenails, Clinodactyly of the 5th finger, Abnormal pupil morphology, Impacted tooth, ... ORPHA:236
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Frontal bossing, Shallow orbits, Micrognathia OMIM:617306
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dislocated radial head, Dental malocclusion, Flat capital femoral epiphysis, Joint c... OMIM:612350
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Brachyturricephaly, Osteoporosis, Dela... OMIM:613849
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft palate, Abnormality of canine, Tented upper lip vermilion, Agenesis of central incisor, Sho... ORPHA:364577
Ck Syndrome
High palate, Slender build, Malar flattening, Upslanted palpebral fissure, Retrognathia, Microgna... OMIM:300831
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Frontal bossing, Failure to thrive OMIM:615085
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Thick eyebrow, Tooth malposition, Malar flat... ORPHA:2769
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... OMIM:619489
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Broad jaw, Thickened calvaria, Brachycephaly ORPHA:178377
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Spars... OMIM:190350
Mohr Syndrome
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... OMIM:252100
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Supernumerary tooth, Sparse hair, Oste... OMIM:190351
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Temple-Baraitser Syndrome
High palate, Wide mouth, Short phalanx of the thumb, Delayed eruption of teeth, Long eyelashes, T... ORPHA:420561
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Cataract, Hemiatrophy of upper limb, Increased bone mi... ORPHA:163649
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Microcornea, Downs... OMIM:257850
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Cataract, Rocker bottom foot, Flexion contracture, Micr... OMIM:214150
Pseudopseudohypoparathyroidism
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Cataract, Obesity, Sho... OMIM:612463
Desmosterolosis
Failure to thrive, Narrow mouth, Increased bone mineral density, Cleft palate, Osteopetrosis, Ret... ORPHA:35107
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Dolichocephaly, Upper limb undergrowth, Pathologic f... ORPHA:166277
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple... OMIM:273050
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Cone-shaped epiphysis, Short philtrum, Delayed eruption of teeth, Oste... ORPHA:71267
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Premature Aging Syndrome, Penttinen Type
Sparse hair, Thin vermilion border, Thin calvarium, Osteopenia, Micrognathia, Brachydactyly, Dela... OMIM:601812
Frank-Ter Haar Syndrome
Joint stiffness, Wide mouth, Clinodactyly of the 5th finger, Gingival overgrowth, Premature loss ... ORPHA:137834
Acrodysostosis
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... ORPHA:950
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hypopigmentation of the skin, Hypopigmentation of hair, Epicanthus, Cafe-au-lait spot OMIM:618541
Elsahy-Waters Syndrome
High palate, Impacted tooth, Megalocornea, Delayed eruption of teeth, Downslanted palpebral fissu... OMIM:211380
Grant Syndrome
Abnormal palate morphology, Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hype... ORPHA:2097
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of femur morphology, Plagiocephaly, Tooth agenesis, Narrow palate, Micrognathia, Abno... ORPHA:2063
48,Xxyy Syndrome
Ataxia, Taurodontia, Cleft palate, Open bite, Depression, Anxiety, Delayed eruption of teeth, Car... ORPHA:10
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Momo Syndrome
High palate, Short sternum, Hyperconvex nail, Femoral bowing, Delayed eruption of teeth, Large fo... ORPHA:2563
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... OMIM:184260
Non-Distal Trisomy 10Q
High palate, Cognitive impairment, Everted lower lip vermilion, Micrognathia, Frontal bossing, Br... ORPHA:1695
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Microcornea, Mandibular prognathia, Midface retrusion, Short distal phalanx of finge... ORPHA:1327
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Tapered finger, ... ORPHA:970
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Failure to thrive, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndact... ORPHA:476126
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Posterior plagiocephaly, Slender finger, Sparse hair, Short fourth metatarsal, Sparse... OMIM:619841
Ramon Syndrome
Failure to thrive, Generalized hirsutism, Narrow palate, Abnormality of retinal pigmentation, Del... ORPHA:3019
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... OMIM:618342
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Gorham-Stout Disease
Abnormality of femur morphology, Mandibular pain, Abnormality of finger, Osteomyelitis, Abnormal ... ORPHA:73
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... ORPHA:1423
Clark-Baraitser Syndrome
High palate, Wide mouth, Brachycephaly, Hyperactivity, Dolichocephaly, Short philtrum, Anxiety, L... OMIM:617752
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Flared metaphysis, Oligodontia,... OMIM:601668
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Gomez-Lopez-Hernandez Syndrome
High palate, Ataxia, Self-injurious behavior, Hyperactivity, Malar flattening, Cognitive impairme... OMIM:601853
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Abn... ORPHA:53
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Cognitive impairment, Short philtrum, Delayed eruption of teeth, Mandibular progn... ORPHA:2325
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Microgna... OMIM:265800
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, Hypoplasia of ... OMIM:259600
Rothmund-Thomson Syndrome
Sparse hair, Sparse eyebrow, Osteopenia, Abnormality of the dentition, Delayed eruption of teeth,... ORPHA:2909
Craniometadiaphyseal Dysplasia
High palate, Sclerosis of skull base, Wide anterior fontanel, Malar flattening, Osteopenia, Flare... OMIM:269300
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Abnormality of hair texture, Otitis media, Craniosynostosis, Osteopetrosis, ... ORPHA:667
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Eczematoid dermatitis, Persistence of primary teeth, Skin rash,... OMIM:147060
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Osteopetrosis, Autosomal Recessive 5
Gingival overgrowth, Stillbirth, Increased bone mineral density, Decreased osteoclast count, Oste... OMIM:259720
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Upslanted palpebral fissure, Sparse body hair, C... ORPHA:1133
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Dental malocclusion, Osteosclerosis of th... ORPHA:210110
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Dental malocclusion, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Malar flattening, Micrognathia, Flared metaphysis, Microme... OMIM:215045
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Anxiety, Diastema, Microdontia, B... OMIM:619718
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Progressiv... OMIM:224300
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... ORPHA:1306
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
4H Leukodystrophy
Ataxia, Hypodontia, Dysmetria, Mental deterioration, Abnormality of the dentition, Dysdiadochokin... ORPHA:289494
48,Xxxy Syndrome
Taurodontia, Irritability, Cleft palate, Abnormal social behavior, Open bite, Anxiety, Abnormal a... ORPHA:96263
Muenke Syndrome
High palate, Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped middle phalanges ... OMIM:602849
Cranioectodermal Dysplasia
Sparse hair, Craniosynostosis, Abnormality of the dentition, Microdontia, Rhizomelia, Abnormal to... ORPHA:1515
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Brachydactyly, Sy... ORPHA:3238
Proteus Syndrome
Ptosis, Calvarial hyperostosis, Dolichocephaly, Limbal dermoid, Thin bony cortex, Depigmentation/... OMIM:176920
Gapo Syndrome
Nail dysplasia, Eruption failure, Wide anterior fontanel, High, narrow palate, Sparse hair, Spars... OMIM:230740
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Metaphyseal widening OMIM:618476
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Mandibular prognathia, Cra... OMIM:122860
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-shaped distal ... OMIM:218400
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
Familial Expansile Osteolysis
Premature loss of teeth, Fragile teeth, Pathologic fracture, Thin bony cortex, Osteolysis, Bowing... OMIM:174810
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Clinodactyly of the 5th finger, Low anterior hairline, Small for gestational a... ORPHA:73272
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec... OMIM:182250
Weismann-Netter Syndrome
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee... OMIM:112350
Hall-Riggs Syndrome
Wide mouth, Joint stiffness, Failure to thrive, Coarse hair, Brachydactyly, Delayed eruption of t... ORPHA:2107
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Decreased body weight, Increased bone mineral density, Arachnodactyly, Th... OMIM:614856
Hutchinson-Gilford Progeria Syndrome
High palate, Corneal ulceration, Limitation of movement at ankles, Impacted tooth, Shallow orbits... ORPHA:740
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Self-injurious behavior, Aggressive behavior, Limb tremor, Brachycephaly OMIM:300699
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Rothmund-Thomson Syndrome, Type 2
High palate, Sparse hair, Sparse eyebrow, Alopecia, Congenital hip dislocation, Delayed eruption ... OMIM:268400
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... ORPHA:2228
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Diastrophic Dysplasia
Joint stiffness, Increased bone mineral density, Cleft palate, Micrognathia, Hip dysplasia, Campt... ORPHA:628
Brachydactyly, Type E1
Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ... OMIM:113300
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Tripha... OMIM:604757
Pseudohypoparathyroidism, Type Ia
Short toe, Subcutaneous ossification, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Ena... OMIM:103580
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Peroxisomal Acyl-Coa Oxidase Deficiency
No social interaction, Frontal bossing, Brachycephaly, Dystonia, Irritability OMIM:264470
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Hip contracture, Wide anterior fontanel, Cleft palate, Malar fla... OMIM:601561
Hypochondroplasia
Malar flattening, Flared metaphysis, Brachydactyly, Genu varum, Limited elbow extension, Frontal ... OMIM:146000
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Sparse hair, Coarse hair, Delayed eruption of teeth, Microdontia, Cariou... ORPHA:50814
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Micrognathia, Brachycephaly, Trigonocephaly OMIM:275595
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Epicant... OMIM:618761
Dysosteosclerosis
Abnormal dental enamel morphology, Recurrent fractures, Increased bone mineral density, Delayed e... ORPHA:1782
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Slender long bone, ... OMIM:619795
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Recurrent skin infections OMIM:612840
Achondrogenesis Type 2
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, H... ORPHA:93296
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Pain insensitivity, Long philtrum, Delayed eruption of teeth, Frontal bo... OMIM:618825
Hallermann-Streiff Syndrome
High palate, Sparse hair, Sparse eyebrow, Thin calvarium, Downslanted palpebral fissures, Catarac... OMIM:234100
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad... OMIM:271530
Dysostosis, Stanescu Type
Tooth agenesis, Increased bone mineral density, Massively thickened long bone cortices, Macroglos... ORPHA:1798
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Gingival overgrowth, Hirsu... ORPHA:313855
2Q32Q33 Microdeletion Syndrome
High palate, Conspicuously happy disposition, Narrow mouth, Cleft palate, Thin vermilion border, ... ORPHA:251019
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced eruption of teeth,... ORPHA:949
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... ORPHA:2204
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Eczema, Mottled pigmentation, Deviation of finger, Abnormality o... ORPHA:1525
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly, No social interaction, Aggressive behavior OMIM:309530
Rutherfurd Syndrome
Opacification of the corneal stroma, Delayed eruption of primary teeth, Corneal dystrophy, Failur... OMIM:180900
49,Xxxxy Syndrome
Overfriendliness, Taurodontia, Irritability, Cleft palate, Open bite, Delayed eruption of teeth, ... ORPHA:96264
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Finger joint hypermobility, Generalized hypoplasia o... ORPHA:49042
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia, Delayed eruption of t... ORPHA:166272
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Microcornea, Sagittal cranio... OMIM:201000
Xq28 (MECP2) duplication
Failure to thrive, Narrow mouth, Inability to walk, Malar flattening, Depression, Anxiety, Gait a... DECIPHER:45
Zimmermann-Laband Syndrome
High palate, Wide mouth, Cleft palate, Facial hypertrichosis, Downslanted palpebral fissures, Gen... ORPHA:3473
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... OMIM:228560
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Self-injurious behavior, Cleft palate, Micrognathia, Short philtrum... ORPHA:819
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... ORPHA:2222
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5th finger, Coxa vara, Abnormality o... OMIM:272460
Adenylosuccinase Deficiency
Wide mouth, Happy demeanor, Inability to walk, Poor eye contact, Hyperactivity, Opisthotonus, Sel... OMIM:103050
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Megalocornea, Delayed eruption of teeth, Downslanted ... ORPHA:915
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... ORPHA:2025
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Calvarial hyperostosis, Delayed ... OMIM:101800
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
X-Linked Hypohidrotic Ectodermal Dysplasia
Short distal phalanx of finger, Sparse hair, Everted lower lip vermilion, Sparse body hair, Aplas... ORPHA:181
Diastrophic Dysplasia
Hip contracture, Talipes equinovarus, Cleft palate, Small for gestational age, Costal cartilage c... OMIM:222600
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Microcornea, Radioulnar sy... ORPHA:2712
Short Syndrome
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Megalocornea, Delayed e... OMIM:269880
Coffin-Lowry Syndrome
High palate, Wide mouth, Broad finger, Delayed eruption of teeth, Tapered finger, Advanced erupti... ORPHA:192
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Rothmund-Thomson Syndrome Type 2
High palate, Sparse hair, Cleft palate, Metaphyseal sclerosis, Osteopenia, Abnormality of the den... ORPHA:221016
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Hypertrichosis, Talipes equinovarus, Short palpebral fissure, Macro... OMIM:616354
Hemifacial Atrophy, Progressive
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... OMIM:141300
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Micrognathia, Downslanted p... OMIM:201050
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Tetrasomy 12P
Thick upper lip vermilion, Sparse hair, Abnormal soft palate morphology, Everted lower lip vermil... ORPHA:884
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Adenylosuccinate Lyase Deficiency
Long philtrum, Flat occiput, Thin upper lip vermilion, Brachycephaly, Smooth philtrum ORPHA:46
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, Delayed erupti... ORPHA:2863
Gapo Syndrome
Abnormal palate morphology, Hypopigmented skin patches, Sparse eyebrow, Everted lower lip vermili... ORPHA:2067
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Osteopetrosis With Renal Tubular Acidosis
High palate, Recurrent fractures, Plagiocephaly, Narrow mouth, Persistence of primary teeth, Toot... ORPHA:2785
Craniofrontonasal Dysplasia
High palate, Abnormality of hair texture, Craniosynostosis, Abnormality of the dentition, Down-sl... ORPHA:1520
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Hallermann-Streiff Syndrome
Abnormality of the tongue, Abnormality of hair texture, Sparse hair, Sparse eyebrow, Alopecia, Ab... ORPHA:2108
Rothmund-Thomson Syndrome Type 1
Sparse hair, Metaphyseal sclerosis, Osteopenia, Abnormality of the dentition, Sparse or absent ey... ORPHA:221008
Pitt-Hopkins Syndrome
Abnormal palate morphology, Wide mouth, Failure to thrive, Tooth malposition, Supernumerary nippl... ORPHA:2896
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl... OMIM:601345
Coffin-Siris Syndrome 2
High palate, Wide mouth, Cleft palate, Short philtrum, Delayed eruption of teeth, Long eyelashes,... OMIM:614607
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Sparse hair, Cleft palate, Osteopenia, Coarse hair, Delayed eruption of ... OMIM:607812
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
2Q23.1 Microdeletion Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Malar flattening, Everted lower lip vermilion, Ma... ORPHA:228402
Smith-Magenis Syndrome
Head-banging, Velopharyngeal insufficiency, Hyperactivity, Malar flattening, Self-mutilation, Abn... OMIM:182290
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia, Ataxia OMIM:615905
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Brachycephaly, Thick lower lip verm... OMIM:309545
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Cataract, Obesity, Sho... OMIM:612462
Acrofacial Dysostosis, Palagonia Type
Pili torti, Low anterior hairline, Supernumerary tooth, High, narrow palate, Malar flattening, Sp... ORPHA:1787
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Trichorhinophalangeal Syndrome Type 1 And 3
Short distal phalanx of finger, High palate, Clinodactyly of the 5th finger, Supernumerary tooth,... ORPHA:77258
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/... OMIM:113000
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Hyperextensibility of the finger joints, Frontal upsweep of hair... OMIM:619797
Raine Syndrome
High palate, Wide mouth, Cleft palate, Brachyturricephaly, Micromelia, Microdontia, Downslanted p... OMIM:259775
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi... ORPHA:94089
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... OMIM:300602
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... OMIM:264475
Osteopoikilosis And Dacryocystitis
Dacryocystitis, Osteopoikilosis OMIM:166705
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Brachycephaly ORPHA:404493
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, High, narrow palate, Abnormal social behavior, Micrognathia, Anxiety, Attention... ORPHA:444002
Acrofacial Dysostosis, Weyers Type
Hypoplastic toenails, Clinodactyly of the 5th finger, Hypodontia, Toenail dysplasia, Small hand, ... ORPHA:952
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... ORPHA:75508
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Char Syndrome
No permanent dentition, Ptosis, Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Trian... ORPHA:46627
Hereditary Geniospasm
Abnormality of lower lip, Abnormal social behavior ORPHA:53372
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Pain insensitivity, Narrow palate, Macrodontia of permanent maxillary central inci... ORPHA:364028
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Ataxia, Plagiocephaly, Hyperactivity, Anxiety, Downturned corners of mouth, Fronta... OMIM:618430
Codas Syndrome
Congenital hip dislocation, Brachydactyly, Joint hyperflexibility, Delayed eruption of teeth, Epi... ORPHA:1458
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Oculodentodigital Dysplasia
Sparse hair, Cleft palate, Microcornea, Carious teeth, Cataract, Slow-growing hair, Mandibular pr... ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
High palate, Narrow mouth, Decreased body weight, Poor eye contact, Ataxia, Malar flattening, Ina... OMIM:300260
Filippi Syndrome
Hypertrichosis, Decreased body weight, Hypodontia, Sparse hair, Thin vermilion border, Cutaneous ... OMIM:272440
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Brachycephaly, Retrognathia ORPHA:2528
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Midface retrusion,... OMIM:119600
Chime Syndrome
Sparse hair, Cleft palate, Abnormality of the dentition, Short philtrum, Microdontia, Abnormal ep... ORPHA:3474
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Recurrent pneumonia, Abnormal trabecular bone morphology, Femur fracture OMIM:612301
Coffin-Siris Syndrome 10
Epicanthus, Wide mouth, Persistence of primary teeth, Clinodactyly OMIM:618506
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Premature os... ORPHA:93284
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Broad-based gait, Decreased body weight, Hyperactivity, Cleft palate, Bifid uvul... OMIM:300958
Bloom Syndrome
Hypertrichosis, Clinodactyly of the 5th finger, Malar flattening, Small for gestational age, Doli... OMIM:210900
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Acrootoocular Syndrome
Cutaneous syndactyly, Delayed eruption of teeth, Downslanted palpebral fissures, Sandal gap, High... ORPHA:2980
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Wide mouth, High palate, Ataxia, Hyperactivity, Plagiocephaly, Macroglossia, Do... ORPHA:369891
Muenke Syndrome
Carpal synostosis, Plagiocephaly, Hypermelanotic macule, High, narrow palate, Malar flattening, C... ORPHA:53271
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... OMIM:300431
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Cornelia De Lange Syndrome 2
High palate, Brachycephaly, Cognitive impairment, Micrognathia, Downturned corners of mouth, Thin... OMIM:300590
Greenberg Dysplasia
Calvarial skull defect, Anterior rib punctate calcifications, Abnormal bone ossification, Abnorma... ORPHA:1426
Pierpont Syndrome
Failure to thrive, Decreased body weight, Prominent median palatal raphe, Long upper lip, Everted... OMIM:602342
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Narrow mouth, Hyperactivity, Small for gestational age, Micrognathia, Short philtrum,... OMIM:615834
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Plagiocephaly, Cleft palate, Talon cusp, Brachydactyly, Syndactyly, Microdonti... OMIM:605282
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Supernumerary tooth, Sparse hair, Abnormality of the dentiti... ORPHA:1264
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Self-injurious behavior, Malar flattening, Aggressive behavior... OMIM:600430
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:241530
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Slender long bone, Abnormal cort... ORPHA:1486
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... ORPHA:363417
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Chromosome 5P13 Duplication Syndrome
High palate, Brachycephaly, Sparse hair, Short palpebral fissure, Craniosynostosis, Small for ges... OMIM:613174
Sponastrime Dysplasia
Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip subluxation, Small epiphy... ORPHA:93357
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Skin rash, Craniosynostosis, Cleft palate, Osteopenia, Eczema... ORPHA:2314
Pierpont Syndrome
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... ORPHA:487825
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate,... OMIM:619736
Desanto-Shinawi Syndrome
Brachycephaly, Anxiety, Downturned corners of mouth, Attention deficit hyperactivity disorder, Ag... OMIM:616708
Peters-Plus Syndrome
Cleft palate, Craniosynostosis, Facial hypertrichosis, Square pelvis bone, Rhizomelia, Hypoplasia... OMIM:261540
Apert Syndrome
Cleft palate, Craniosynostosis, Cutaneous syndactyly, Brachyturricephaly, Shallow orbits, Delayed... OMIM:101200
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Dysmetria, Gait ataxia, Dental crowding, Spastic gait, Brachycephaly OMIM:615031
Coffin-Siris Syndrome 3
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... OMIM:614608
Craniosynostosis, Herrmann-Opitz Type
Malar flattening, Craniosynostosis, Cleft palate, Micrognathia, Cognitive impairment, Brachycepha... ORPHA:2145
3M Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Everted lower lip vermilion, Dolichocephaly, Conge... ORPHA:2616
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Ataxia, Inability to walk, Progressive neurologic deterioration, Chorea, Brach... ORPHA:70472
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Dental malocclusion, Nail dysplasia, Abnormality of hair texture,... OMIM:601957
Incontinentia Pigmenti
Keratitis, Alopecia, Delayed eruption of teeth, Abnormal hand morphology, Uveitis, Osteolysis, Ca... ORPHA:464
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dental crowding, Brachycephaly, Gait ataxia, Dysmetria ORPHA:320385
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Hyperconvex nail, Long philtrum, De... OMIM:157980
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... ORPHA:1310
Cole-Carpenter Syndrome
Recurrent fractures, Micrognathia, Joint hyperflexibility, Delayed eruption of teeth, Downslanted... ORPHA:2050
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Cornelia De Lange Syndrome 5
High palate, Happy demeanor, Cleft palate, Retrognathia, Micrognathia, Thin vermilion border, Lon... OMIM:300882
Laron Syndrome
Short toe, Tooth agenesis, Micrognathia, Osteoarthritis, Brachydactyly, Delayed eruption of teeth... ORPHA:633
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Impaired social interactions, Brachycephaly, Aggressive behavior OMIM:616083
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Majeed Syndrome
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin,... ORPHA:77297
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Brachycephaly, Poor eye contact, Micrognathia, Thin upper lip vermilion, Smooth philtrum OMIM:615419
Craniosynostosis And Dental Anomalies
High palate, Delayed eruption of teeth, Fingernail dysplasia, Broad hallux, Downslanted palpebral... OMIM:614188
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Narrow mouth, Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cereb... ORPHA:314647
X-Linked Non-Syndromic Intellectual Disability
2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Small for gestational age,... ORPHA:777
Lowry-Maclean Syndrome
Corneal opacity, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, Osteopenia, M... ORPHA:2409
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Limitation of joint mobility, Hirsutism, Joint contracture... OMIM:224400
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxil... ORPHA:2776
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Chand Syndrome
Agenesis of maxillary incisor, Short fifth metatarsal, Nail dysplasia, Ankyloblepharon, Cleft pal... ORPHA:1401
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Everted lower lip vermilion, Small hand, Long philtrum, Advanced eruption of teeth, D... OMIM:615873
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased body weight, Small for gestational age, Hypoplasia of the maxilla, Mandibular prognathi... ORPHA:93950
Stickler Syndrome
Cleft palate, Advanced eruption of teeth, Genu valgum, Abnormal epiphysis morphology, Uveitis, Hy... ORPHA:828
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density, Diaphyseal dysplasia OMIM:231095
Otopalatodigital Syndrome Type 2
Cleft palate, Downslanted palpebral fissures, Cataract, Bowing of the long bones, Carpal synostos... ORPHA:90652
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... OMIM:154780
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Hypophosphatemic ric... ORPHA:289176
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide mouth, Sparse eyebrow, Short philtrum, Microdontia, Tapered finger, Long eyelashes, Aplastic... OMIM:619293
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Narrow mouth, Short metacarpal, Cone-shaped epiphysis, Long ph... OMIM:102370
Teebi Hypertelorism Syndrome 1
Upslanted palpebral fissure, Coronal craniosynostosis, Micrognathia, Small hand, Long philtrum, D... OMIM:145420
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Malar flattening... ORPHA:50945
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Ulnar deviation of the hand, Flexion contracture, Narrow greater sciatic ... OMIM:263210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Plagiocephaly, Osteopenia, Short philtrum, Cachexia, Tapered finger, Downslanted... OMIM:616801
Aminopterin Syndrome Sine Aminopterin
High palate, Decreased body weight, Joint contracture of the hand, Cleft palate, Arachnodactyly, ... OMIM:600325
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Hypodontia, Dysmetria, Impaired vibration sensation in the lower limbs, Intention tremor,... ORPHA:447896
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Atopic dermatitis, Congenital hip dislocation, Limited elbow extension, Inci... OMIM:619719
Chst3-Related Skeletal Dysplasia
Flexion contracture, Sparse eyebrow, Brachydactyly, Irregular epiphyses, Delayed eruption of teet... ORPHA:263463
Taurodontism
Taurodontia OMIM:272700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Summitt Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Brachyd... ORPHA:3210
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... OMIM:170390
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cleft palate, Advanced eruption of teeth, Tapered finger, Ulnar deviation of finger, Fingernail d... ORPHA:2215
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Brachycephaly, Chorea, Athetosis OMIM:309541
Angelman Syndrome
Broad-based gait, Wide mouth, Hyperactivity, Macroglossia, Widely spaced teeth, Flat occiput, Pro... OMIM:105830
Beck-Fahrner Syndrome
High palate, Brachycephaly, Depression, Anxiety, Long philtrum, Attention deficit hyperactivity d... OMIM:618798
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downturned corners of mouth, Deep philtrum, Brachycephaly, Inappropriate laughter OMIM:618859
Pachydermoperiostosis
Eczematoid dermatitis, Osteomyelitis, Abnormal hair quantity, Small hand, Abnormal hair pattern, ... ORPHA:2796
Intellectual Developmental Disorder, Autosomal Dominant 1
Wide mouth, Ataxia, Microdontia, Open mouth, Mandibular prognathia, Impaired social interactions,... OMIM:156200
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thick eyebrow, Prominent fingertip pads, Brittle hair, Thin ver... OMIM:617412
Potocki-Shaffer Syndrome
Parietal foramina, Micrognathia, Short philtrum, Downturned corners of mouth, Epicanthus, Brachyc... ORPHA:52022
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Micromelia, Microcornea, L... ORPHA:800
Growth Hormone Insensitivity Syndrome
Failure to thrive, Everted lower lip vermilion, Delayed eruption of teeth, Truncal obesity, Fine ... ORPHA:181393
Hamamy Syndrome
High palate, Wide mouth, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Down-sloping ... OMIM:611174
Frank-Ter Haar Syndrome
High palate, Wide mouth, Osteopenia, Megalocornea, Downslanted palpebral fissures, Bowing of the ... OMIM:249420
Lead Poisoning
Small for gestational age, Depression, Cognitive impairment, Delayed eruption of teeth, Memory im... ORPHA:330015
Brachydactyly, Type E2
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal OMIM:613382
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Thick... ORPHA:502
Intellectual Disability, Birk-Barel Type