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Gene: Src MGI:98397

Gene Summary

Name:

Rous sarcoma oncogene

Synonyms:

pp60c-src

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased mean corpuscular hemoglobin		Src^{tm2a(EUCOMM)Wtsi}	HET		Early adult	4.48×10^-05

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	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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

Src^{tm2a(EUCOMM)Wtsi}
head, HET, Male, WTSI

Src^{tm2a(EUCOMM)Wtsi}
forearm, HET, Male, WTSI

Src^{tm2a(EUCOMM)Wtsi}
head, HET, Female, WTSI

View all 85 images

Src^{tm2a(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.

Human diseases associated with Src (2 diseases)
Human diseases predicted to be associated with Src (1224 diseases)

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	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Frontal bossing, Increased bone mineral density, Dental enamel pits, Peri...	ORPHA:3352
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Nondisjunction	Decreased fertility	OMIM:158250
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Osteopetrosis, Autosomal Dominant 1	Thickened calvaria, Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morp...	OMIM:607634
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Pyle Disease	Thickened calvaria, Metaphyseal dysplasia, Mandibular prognathia, Delayed eruption of teeth, Pers...	OMIM:265900
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc...	ORPHA:2780
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Frontal bossing, Increased bone mineral density, Cataract, Micrognathia, Microcornea, Iris transi...	OMIM:617306
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
Spermatogenic Failure 17	Male infertility	OMIM:617214
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis, Telecanthus	ORPHA:1522
Osteoglosphonic Dysplasia	Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, Multiple unerupted teet...	ORPHA:2645
Osteopetrosis, Autosomal Recessive 1	Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis,...	OMIM:259700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic toenails, Short metatar...	OMIM:166250
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Trichodentoosseous Syndrome	Frontal bossing, Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely sp...	OMIM:190320
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Autism, Susceptibility To, 20	Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder	OMIM:618830
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m...	ORPHA:3416
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Narrow mouth, Reduced bone miner...	OMIM:619322
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A...	ORPHA:2779
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Gingival overgrowth, Gingival fi...	ORPHA:2026
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Gómez-López-Hernández Syndrome	Turricephaly, Ataxia, Impaired pain sensation, Brachycephaly, Thin vermilion border, Cognitive im...	ORPHA:1532
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
W Syndrome	Hypoplasia of the ulna, Telecanthus, Radial bowing, Acne, Broad uvula, Metatarsus adductus, Submu...	ORPHA:2804
Otopalatodigital Syndrome Type 1	Thickened calvaria, Bowing of the long bones, Increased bone mineral density, Sandal gap, Anodont...	ORPHA:90650
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Ck Syndrome	Epicanthus, Dental crowding, Micrognathia, Almond-shaped palpebral fissure, Abnormal digit morpho...	OMIM:300831
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Alopecia, Joint stiffness, Carious teeth, Osteoporosis,...	OMIM:136300
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Flat occiput, Ataxia, Abnormal dental enamel morphology, Op...	ORPHA:10
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Trisomy 9P	Hypoplastic fingernail, Dental crowding, Hypoplastic toenails, Abnormal pupil morphology, Non-mid...	ORPHA:236
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Thin bony cortex, Epicanthus, Recu...	OMIM:277440
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Curly hai...	ORPHA:85184
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Tremor, High palate, Short philtrum, Abnormal repetitive mannerism...	OMIM:618342
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Frontal bossing, Delayed eruption of teeth, Camptodac...	OMIM:612350
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o...	OMIM:613849
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Tented upper lip vermilion, Increased skull ossification, Metaphyseal widening, Crani...	OMIM:618476
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	ORPHA:364577
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Abnormal bone ossification...	ORPHA:163649
Temple-Baraitser Syndrome	Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,...	ORPHA:420561
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis, Brachycephaly, Thickened calvaria	ORPHA:178377
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Failure to thrive, Osteopetrosis	OMIM:615085
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Flexion contracture, Knee flexion contracture, Osteoporosis, Joint contracture of t...	OMIM:214150
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Desmosterolosis	Frontal bossing, Epicanthus, Increased bone mineral density, Micromelia, Micrognathia, Metatarsus...	ORPHA:35107
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Cataract, Short metatarsal, Osteoporosis, Obesity, E...	OMIM:612463
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Camptodactyly of finger, Joint stiffness,...	ORPHA:137834
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyl...	ORPHA:166277
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Epicanthus, Osteopetrosis, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Abnormal fibula morphology, ...	ORPHA:2063
Grant Syndrome	Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Brachycephaly, Joint hyperfle...	ORPHA:2097
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Brachycephaly, Cutaneous finger synd...	OMIM:211380
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Microcornea, Persistent ...	OMIM:257850
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Ost...	OMIM:184260
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, Ab...	ORPHA:950
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Hooded eyelid, Micrognathia, Synophrys, Low anter...	OMIM:619841
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Gait disturbance, Attention deficit hyperacti...	OMIM:618761
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb,...	ORPHA:476126
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Pain insensitivity, Dental crowding, Aggressive behav...	OMIM:618825
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Synophrys, Brachycephaly, Microcornea, Downturned corners of mouth, High p...	ORPHA:1327
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Non-Distal Duplication 10Q	Frontal bossing, Micrognathia, Brachycephaly, Everted lower lip vermilion, High palate, Cognitive...	ORPHA:1695
Momo Syndrome	Large for gestational age, Brachycephaly, Femoral bowing, Eyelid coloboma, High palate, Abnormal ...	ORPHA:2563
4H Leukodystrophy	Delayed eruption of teeth, Dystonia, Ataxia, Abnormality of the dentition, Tremor, Dysmetria, Pro...	ORPHA:289494
Pycnodysostosis	Ridged nail, Frontal bossing, Increased bone mineral density, Aplastic clavicle, Micrognathia, Ab...	OMIM:265800
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology...	ORPHA:3019
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Albers-Schönberg Osteopetrosis	Frontal bossing, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular ost...	ORPHA:53
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Sparse hair, Juv...	ORPHA:2909
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Frontal bossing, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of pri...	OMIM:147060
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Re...	OMIM:264700
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema...	ORPHA:667
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Smooth philtrum, Abnormal dental enamel morphol...	ORPHA:1133
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Gingival o...	OMIM:259720
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Alopec...	OMIM:600785
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Shyness, Ope...	ORPHA:96264
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Turricephaly, Ataxia, Craniosynostosis, Brachycephaly, Depression, Self-injurious ...	OMIM:601853
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased...	OMIM:614592
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
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Deep philtrum, Brachycephaly, Downturned corners of mouth, Inappropriate laughter, Recurrent hand...	OMIM:618859
Gapo Syndrome	Keratoconus, Frontal bossing, Epicanthus, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebro...	OMIM:230740
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness,...	ORPHA:2635
Cardiospondylocarpofacial Syndrome	High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos...	ORPHA:3238
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Proteus Syndrome	Limbal dermoid, Open mouth, Mandibular hyperostosis, Depigmentation/hyperpigmentation of skin, Do...	OMIM:176920
Muenke Syndrome	Clinodactyly, Low anterior hairline, Brachycephaly, High palate, Short middle phalanx of toe, Thi...	OMIM:602849
Cranioectodermal Dysplasia	Sparse hair, Clinodactyly of the 5th finger, Microdontia, Abnormal toenail morphology, Finger syn...	ORPHA:1515
2Q23.1 Microdeletion Syndrome	Hyperactivity, Tented upper lip vermilion, Macrodontia, Ataxia, Polyphagia, Brachycephaly, Self-i...	ORPHA:228402
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Telecanthus, Flared metaphysis, Delayed eruption of...	OMIM:218400
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Hig...	OMIM:182250
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Abnormal p...	ORPHA:208441
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Frontal bossing, Pain insensitivity, Tented upper lip vermilion, Aggressiv...	OMIM:615828
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Craniolenticulosutural Dysplasia	Brittle hair, Hypoplasia of the maxilla, Abnormality of skin pigmentation, Coarse hair, High pala...	ORPHA:50814
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Recurrent fractures, Osteopetrosis	OMIM:611490
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, Premature graying o...	OMIM:268400
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Slow-growing hair, Abnormal dental enamel morphology, Thic...	ORPHA:2107
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Frontal bossing, ...	ORPHA:2484
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe...	OMIM:618363
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteo...	ORPHA:763
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Micrognathia, Osteoporosis, Low anterior ha...	ORPHA:73272
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Malar flattening, Micromelia, Epiphyseal stippling, Short long bone, Short 3rd...	OMIM:118651
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Thin upper lip vermilion, Micrognathia, High, narrow palate, Obesity, Atten...	ORPHA:444002
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Snijders Blok-Campeau Syndrome	Frontal bossing, Broad-based gait, Unsteady gait, Taurodontia, High palate, Widely spaced teeth, ...	OMIM:618205
Xq28 (MECP2) duplication	Inability to walk, Brachycephaly, Dysphagia, Depression, Gait ataxia, Narrow mouth, Malar flatten...	DECIPHER:45
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to...	ORPHA:2228
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Cataract, Short toe, Short metatarsal, Osteoporosis,...	OMIM:103580
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Hereditary Geniospasm	Abnormal lower lip morphology, Abnormal social behavior, Intention tremor	ORPHA:53372
Leukocyte Adhesion Deficiency, Type Iii	Recurrent skin infections, Osteopetrosis	OMIM:612840
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Abnormal pelvic gi...	OMIM:272460
Smith-Magenis Syndrome	Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Failure to thrive in infancy,...	ORPHA:819
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Micromelia, Hypop...	ORPHA:93296
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Advanced eruption of teeth, Abnormal toenail m...	ORPHA:949
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Megalocornea, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hirs...	ORPHA:313855
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis	OMIM:600252
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c...	OMIM:613684
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Clark-Baraitser Syndrome	Thin upper lip vermilion, Hyperactivity, Exaggerated cupid's bow, Aggressive behavior, Dolichocep...	OMIM:617752
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Flat occiput, Osteomalacia, Irregular, rachitic-like ...	ORPHA:289157
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Premature loss of primary teeth, Brachycephaly, Widely spaced teeth, Attention d...	OMIM:617364
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Micromelia, Coxa valga, Con...	ORPHA:166272
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa...	OMIM:180900
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach...	OMIM:201000
Zimmermann-Laband Syndrome	Micrognathia, Overtubulated long bones, High palate, Absent fingernail, Bifid uvula, Supernumerar...	ORPHA:3473
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Epicanthus, Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Microgna...	OMIM:616901
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
2Q32Q33 Microdeletion Syndrome	Dental crowding, Micrognathia, Aggressive behavior, Brachycephaly, Cleft palate, Oligodontia, Thi...	ORPHA:251019
Cranio-Osteoarthropathy	Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation o...	ORPHA:1525
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Aggressive behavior, Brachycephaly, Limb tremor, Self-injurious behavior, Slender build	OMIM:300699
Diastrophic Dysplasia	Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ...	OMIM:222600
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv...	ORPHA:2025
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin...	ORPHA:2222
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Megalocor...	ORPHA:915
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Hyperconvex fingernails, High palate, Widely spaced teeth, Advanced er...	ORPHA:192
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Wide ...	OMIM:607812
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, High palate, Microdontia, Sparse hair, Juvenile cataract, Short ...	ORPHA:221016
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pitt-Hopkins Syndrome	Supernumerary nipple, Tapered finger, Broad fingertip, Small hand, Short metatarsal, Hypopigmente...	ORPHA:2896
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Recurrent fractures, Bowing o...	OMIM:600081
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum	ORPHA:46
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Microdontia, Sparse hair, Juvenile cataract, Short phalanx of fi...	ORPHA:221008
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, T...	OMIM:619797
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy...	OMIM:141300
Craniofrontonasal Dysplasia	Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Finger syndactyly, B...	ORPHA:1520
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Oculofaciocardiodental Syndrome	Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Highly arch...	ORPHA:2712
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Frontal bossing, Everted upper lip vermilion, Everted lower lip vermil...	ORPHA:181
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip...	OMIM:250460
Tetrasomy 12P	Delayed eruption of teeth, Frontal bossing, Telecanthus, Thin upper lip vermilion, Cachexia, Spar...	ORPHA:884
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Gapo Syndrome	Keratoconus, Frontal bossing, Mandibular prognathia, Delayed eruption of teeth, Sparse eyelashes,...	ORPHA:2067
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly, Dysphagia, Irritability, Dystonia	OMIM:264470
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Thick vermilion border, Absent fifth toenail,...	OMIM:614607
Bloom Syndrome	Syndactyly, Small for gestational age, Bronchiectasis, Agenesis of maxillary lateral incisor, Spo...	OMIM:210900
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Flat occiput, Protruding tongue, ...	OMIM:105830
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Uveitis, Reduced bone mineral density, Glossopt...	ORPHA:2108
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Exaggerated cupid's bow, Rocker bottom foot, Trigonocephaly, Wide mouth, Delayed erup...	OMIM:618506
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm...	OMIM:309545
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Shallow orbits, Short palm, Sparse hair, ...	OMIM:601812
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,...	OMIM:614613
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hyperactivity, Impaired pain sensation, Abnor...	OMIM:182290
Trichorhinophalangeal Syndrome Type 1	Frontal bossing, Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avasc...	ORPHA:77258
Osteopoikilosis And Dacryocystitis	Dacryocystitis, Osteopoikilosis	OMIM:166705
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Abnormal eyelid morphology, Micrognathia, High, narrow palat...	ORPHA:1787
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Micrognathia, Persistence of primary teeth, Abnormality of the dentition, Th...	ORPHA:2785
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Microcornea, Clinodactyly of the 5th finger, S...	ORPHA:2710
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Aggressive behavior, Brachycephaly, Downturned corners of mouth, Agitat...	OMIM:616708
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast...	OMIM:601345
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, High palate, Microdontia, Neonata...	OMIM:259775
Beck-Fahrner Syndrome	Brachycephaly, Depression, High palate, Attention deficit hyperactivity disorder, Long philtrum, ...	OMIM:618798
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea, Br...	ORPHA:70472
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Clark-Baraitser syndrome	Joint laxity, Frontal bossing, Exaggerated median tongue furrow, Tapered finger, Thick lower lip ...	OMIM:300602
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Ataxia, Brachycephaly	ORPHA:404493
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Short attention span, Exaggerated startle response, Inability to walk, Cho...	OMIM:617864
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Agenesis of molar, Supernumerary tooth, Microdontia, Anterior plagiocephaly, Bicoronal ...	OMIM:619718
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Restlessness, Hyperactivity, Ataxia, Aggressive behavior, Brachycephaly, D...	ORPHA:369891
Codas Syndrome	Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Cataract, Epican...	ORPHA:1458
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, High palate, Brachycephaly, Narrow mouth	ORPHA:2528
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Conical tooth, Abnormality of the dentition, Hypoplastic toenails...	ORPHA:952
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Small for gestational age, Micrognathia, Deep philtrum, Brachycephaly, Wide mouth,...	OMIM:615834
8Q12 Microduplication Syndrome	Narrow mouth, Brachycephaly, Everted lower lip vermilion, Attention deficit hyperactivity disorde...	ORPHA:228399
Chime Syndrome	Brachycephaly, Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morphology, ...	ORPHA:3474
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Coffin-Siris Syndrome 3	Joint laxity, Sparse scalp hair, Hirsutism, Short distal phalanx of the 5th finger, Cleft palate,...	OMIM:614608
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Hsd10 Disease	Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci...	ORPHA:391417
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Limited elbow movement, Micrognathia, Hypopl...	OMIM:261540
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Upper ey...	OMIM:619736
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Atopic dermatitis, Osteopetrosis	ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Tented upper lip vermilion, Ataxia, Repetitive compulsive behavior, Chorea, I...	OMIM:300260
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Epicanthus, Dental crowding, Hypertrichosis, Broad philtrum, Macroglos...	OMIM:616354
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Micrognathia, Diastema, Brachycephaly, High palate, Short philtrum, At...	OMIM:609757
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Pierpont Syndrome	Smooth philtrum, Brachycephaly, Prominent median palatal raphe, Thin vermilion border, Widely spa...	OMIM:602342
Acrootoocular Syndrome	Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anodontia, Short metacarpal, S...	ORPHA:2980
Lujan-Fryns Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Brachycep...	ORPHA:776
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Widely spaced te...	OMIM:156200
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Cataract, Short metatarsal, Osteoporosis, Obesity, E...	OMIM:612462
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft palate, Short ph...	OMIM:619504
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, High palate, Short philtrum, Attention deficit hyperactivity disord...	OMIM:615433
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Brachyce...	ORPHA:53271
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, ...	OMIM:300590
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog...	ORPHA:309246
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ...	ORPHA:1486
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Filippi Syndrome	2-4 toe syndactyly, Hypertrichosis, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion bor...	OMIM:272440
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Dental crowding, Brachycephaly, Dysmetria, Gait ataxia, Spastic gait	OMIM:615031
Short Syndrome	Joint laxity, Enlarged epiphyses, Rieger anomaly, Cataract, Small for gestational age, Telecanthu...	OMIM:269880
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Recurrent pneumonia, Femur fracture, Osteopetrosis	OMIM:612301
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Skin rash, Eczema, Craniosynostosis, Recurr...	ORPHA:2314
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Small for gestational age, Brachycephaly, Thin vermili...	ORPHA:487825
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation, Reduced bone mineral density	OMIM:620200
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno...	ORPHA:1426
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont...	ORPHA:1264
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Hypopigmentation of the skin, Abnormality of hair texture, De...	OMIM:601957
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Ataxia, Frontal bossing, Agg...	OMIM:618430
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Fro...	ORPHA:2616
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Recurrent fractures, Bowing o...	OMIM:241530
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Dystonia, Ataxia, Postural tremor, Impaired distal proprioception, Imp...	ORPHA:447896
Teebi Hypertelorism Syndrome 1	Frontal bossing, Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, S...	OMIM:145420
Adenylosuccinase Deficiency	Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Inability to walk, Brachycephaly, G...	OMIM:103050
Incontinentia Pigmenti	Abnormal hand morphology, Uveitis, Orofacial cleft, Abnormality of skin pigmentation, Abnormal to...	ORPHA:464
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern...	OMIM:604757
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Dental crowding, Brachycephaly, Dysmetria, Gait ataxia	ORPHA:320385
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Epicanthus, Hyperconvex nail, Thick lower lip vermili...	OMIM:157980
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Downturned corner...	OMIM:617865
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric...	ORPHA:2050
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Ataxia, Choreoathetosis, Hypodontia, Dystonia, Amelogenesis imperfecta	OMIM:615905
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Lens luxation, Ectopia lentis, Micrognath...	OMIM:224400
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Majeed Syndrome	Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Cachex...	ORPHA:77297
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Cleft palate, Cognitive impairment, ...	ORPHA:2145
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Midface retrusion, Short dis...	ORPHA:2776
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Short attention span, Ataxia, Carious teeth, Overweight, Inability to ...	OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth, Brachycephaly, Impaired social interactions, Aggressive behavior	OMIM:616083
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Truncal obesity, Tooth agenes...	ORPHA:633
Lead Poisoning	Delayed eruption of teeth, Somatic sensory dysfunction, Small for gestational age, Anorexia, Cran...	ORPHA:330015
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Ulnar deviation of the hand, Micrognathia, Frontotemporal hypertrichosis...	OMIM:263210
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2409
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Brachycephaly, Decre...	ORPHA:93950
Intellectual Developmental Disorder, Autosomal Recessive 38	Mandibular prognathia, Hyperactivity, Aggressive behavior, Unsteady gait, Narrow palate, Plagioce...	OMIM:615516
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Epicanthus, Frontal bossing, Failure to thrive in infancy, Thin uppe...	OMIM:616801
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Brachycephaly, Self-injurious be...	OMIM:600430
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Reduced bone mineral density, G...	ORPHA:828
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Cataract...	ORPHA:50945
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron...	OMIM:614078
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Slender long bone, Decreased calvari...	OMIM:618265
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Thick lower lip vermilion, Unsteady gait, Mesiodens, Dysmetria, Posi...	ORPHA:314647
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Generalized dystonia, Ataxia, Choreoathetosis, Agitation	OMIM:272300
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Clino...	OMIM:619293
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Frontal bossing, Dental crowding, Plagiocephaly, Diminished ability to concentrate, Tics	OMIM:619264
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Chorea, Brachycephaly, Choreoathetosis, Athetosis, Failure to thrive	OMIM:309541
Acromicric Dysplasia	Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ...	OMIM:102370
Chand Syndrome	Curly hair, Short fifth metatarsal, Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, A...	ORPHA:1401
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Cleft upper lip, Aggressive behavior, Brachycephaly, Cleft palat...	OMIM:300958
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, Prominence of t...	ORPHA:2215
Intellectual Disability, Birk-Barel Type	Hyperactivity, Tented upper lip vermilion, Micrognathia, Dolichocephaly, High, narrow palate, Inc...	ORPHA:166108
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Dystonia, Ataxia, Tremor, Dysmetria, Gait ataxia, Oligodo...	OMIM:614381
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Low anterior hairline, Coxa vara, Microcornea, High palate, Wrist flexi...	ORPHA:800
Taurodontism	Taurodontia	OMIM:272700
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly a...	OMIM:600325
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Downt...	OMIM:300882
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Flat occiput, Brittle hair, Highly arched eyebrow, Synophrys, Supernumerary tooth, Su...	OMIM:617412
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, F...	ORPHA:263463
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Epicanthus, Turricephaly, Small for gestational age, Craniosynostosis, Blepharop...	OMIM:613174
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Summitt Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, P...	ORPHA:3210
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Micrognathia, Brachycephaly, High palate, Short palm, Megalocornea, Sho...	OMIM:249420
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pal...	OMIM:620269
Pachydermoperiostosis	Abnormal hair quantity, Ptosis, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hai...	ORPHA:2796
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Autosomal Recessive Primary Microcephaly	Upslanted palpebral fissure, Thin upper lip vermilion, Abnormal cortical bone morphology	ORPHA:2512
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Micrognathia, Brachycephaly, Downturned corners of mou...	OMIM:615761
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A...	OMIM:617952
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop...	OMIM:611717
Fibrous Dysplasia Of Bone	Abnormal occipital bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa va...	ORPHA:249
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Thin upper lip vermilion, Tented upper lip vermilion, Ataxia, Broad-based g...	ORPHA:438216
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Sparse hair...	OMIM:611174
Kabuki Syndrome 2	Micrognathia, High palate, Prominent fingertip pads, Joint laxity, Highly arched eyebrow, Long pa...	OMIM:300867
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic fingernail, Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Narrow mouth, ...	OMIM:619356
Potocki-Shaffer Syndrome	Epicanthus, Micrognathia, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short ph...	ORPHA:52022
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Sparse scalp hair, Abnormality of the dentition, Avascular necrosis of ...	ORPHA:502
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Pain insensitivity, Slender build, Aggressive behavior, Brachycephaly, Nar...	ORPHA:364028
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Faciocardiomelic Syndrome	Osteopenia, Telecanthus, Large for gestational age, Micrognathia, Dental malocclusion, Hyperplasi...	OMIM:612731
Three M Syndrome 2	Delayed eruption of teeth, Frontal bossing, Small for gestational age, Dental malocclusion, Slend...	OMIM:612921
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape...	OMIM:309350
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Liang-Wang Syndrome	Thin upper lip vermilion, Ataxia, Diastema, Gingival overgrowth, Downturned corners of mouth, Mac...	OMIM:618729
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Corneal opacity, C...	ORPHA:2962
Nance-Horan Syndrome	Diastema, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Mulberry molar, Broa...	OMIM:302350
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Thick upper lip vermilion, ...	ORPHA:163654
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Broad-based gait, Increased body weight, Ma...	OMIM:614450
Cataract-Intellectual Disability-Hypogonadism Syndrome	Micrognathia, Brachycephaly, Furrowed tongue, High palate, Short philtrum, Everted lower lip verm...	ORPHA:1387
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Naegeli-Franceschetti-Jadassohn Syndrome	Reticulated skin pigmentation, Fragile nails, Premature loss of teeth, Hypopigmentation of the sk...	ORPHA:69087
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition, Failure to thrive	OMIM:618603
Kleefstra Syndrome 1	Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Persistence of primary teeth, P...	OMIM:610253
Dacryocystitis-Osteopoikilosis Syndrome	Dacryocystitis, Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Potocki-Shaffer Syndrome	Epicanthus, 2-5 finger cutaneous syndactyly, Telecanthus, Brachydactyly, Turricephaly, Parietal f...	OMIM:601224
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia, Generalized hypopigmentation,...	ORPHA:1816
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Hypoplastic fifth toenail, Sparse scalp hair, Highly arched eyebrow, O...	OMIM:615866
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
12Q14 Microdeletion Syndrome	Frontal bossing, Hyperpigmentation of the skin, Micrognathia, Osteopoikilosis, Synophrys, Downtur...	ORPHA:94063
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Polyph...	OMIM:618774
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long eyelashes, Long philtrum...	OMIM:618577
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Prominence of the premaxilla, Wide anterior fontanel, Scaphocephaly, Cranial asymmetr...	OMIM:614886
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cataract, Cortical subperiosteal resor...	ORPHA:94089
Pseudodiastrophic Dysplasia	Frontal bossing, Micrognathia, Brachycephaly, Malar flattening, Failure to thrive, Midface retrus...	OMIM:264180
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Frontal bossing, Mandibular prognathia, Arachnodactyly, Eczema, Postaxial polydacty...	OMIM:619721
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Cataract, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, S...	OMIM:618727
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp...	OMIM:235510
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Ridged nail, Multiple joint contractures, Brittl...	ORPHA:33364
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Delayed erupt...	OMIM:619269
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short...	OMIM:200610
Sotos Syndrome	Joint laxity, Frontal bossing, Mandibular prognathia, Sparse eyebrow, High, narrow palate, Long m...	OMIM:117550
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Frontal boss...	ORPHA:1328
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Obesity, ...	ORPHA:171839
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition...	ORPHA:2095
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Large for gestational age, Tapered finger, Abnormality of the dentition, Thick lower...	ORPHA:261652
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Brachycephaly, Downturned corners of mouth, Prominent occiput, Plagiocepha...	OMIM:618672
Kury-Isidor Syndrome	Frontal bossing, Tented upper lip vermilion, Brachycephaly, High palate, Widely spaced teeth, Att...	OMIM:619762
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Flat occiput, Small for gestational age, Micrognathia, Dolichocephaly, ...	OMIM:613792
Pseudohypoparathyroidism Type 1A	Thickened calvaria, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increase...	ORPHA:79443
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly, Aggressive behavior	OMIM:309530
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate	OMIM:217150
Kniest Dysplasia	Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collagen, Genu varu...	OMIM:156550
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Joint laxity, Epicanthus, Curly hair, Sparse scalp hair, Eczema, Large for gestati...	OMIM:607721
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Decreased body weig...	OMIM:608027
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, ...	ORPHA:439822
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, High palate, Short ...	OMIM:619148
German Syndrome	Micrognathia, Dolichocephaly, Brachycephaly, Orofacial cleft, Everted lower lip vermilion, High p...	ORPHA:2077
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,...	ORPHA:189
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational...	OMIM:616229
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Synophrys, Short phalanx of finger, Bifid uvula, Genu varu...	OMIM:615777
Cohen Syndrome	Short metacarpal, Thick eyebrow, Small for gestational age, Bone spicule pigmentation of the reti...	OMIM:216550
White-Sutton Syndrome	Mandibular prognathia, Waddling gait, Hyperactivity, Micrognathia, Aggressive behavior, Obesity, ...	OMIM:616364
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Sclerocornea, Co...	OMIM:609465
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,...	OMIM:309583
Acrofrontofacionasal Dysostosis	Ptosis, Camptodactyly of finger, Micromelia, Brushfield spots, Non-midline cleft lip, Brachycepha...	ORPHA:1784
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Inability to walk, Depression, Thick vermilion border, Macrodontia ...	OMIM:620114
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Micrognathia, Deep philtrum, Brachycephaly, Cleft palate, Downturned co...	ORPHA:404440
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Ataxia, Micrognathia, High, narrow palate, Deep ...	ORPHA:435638
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Brachycephaly, Narrow palate, Wide mouth, Athet...	OMIM:619435
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Proximal placement of thumb, Brachycephaly, Sparse hair, Diast...	OMIM:212066
Anauxetic Dysplasia 3	Broad eyebrow, Short metacarpal, Sparse scalp hair, Joint hypermobility, Hip subluxation, Wide an...	OMIM:618853
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, Micromelia, High, narrow palate, Synophrys, Brachyceph...	OMIM:122470
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Midface retrusion	ORPHA:35099
6Q25 Microdeletion Syndrome	Epicanthus, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Cleft palate, Upslanted pa...	ORPHA:251056
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Irritability, Inability to walk	OMIM:617105
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Clover...	ORPHA:87
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Delayed epiphyseal ossifica...	ORPHA:485
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Corneal dystrophy, Abnormality of the dentition, Corneal erosion, ...	ORPHA:90354
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac...	ORPHA:3214
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Brachycephaly, Cleft palate, Widely space...	ORPHA:459061
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Ptosis, Brachydactyly, Flat occiput, Abnormal thumb morphology, Abnormal z...	ORPHA:2511
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Lower eyelid retract...	OMIM:118400
Trichothiodystrophy 3, Photosensitive	Eclabion, Natal tooth, Cataract, Brittle hair, Carious teeth, Developmental cataract, Trigonoceph...	OMIM:616395
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Abnormal pupil morphology, De...	ORPHA:534
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Osteoporosis, Albinism	ORPHA:2786
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hypochondroplasia	Frontal bossing, Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Malar fla...	OMIM:146000
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Microcornea, Short philtrum, Micr...	ORPHA:2707
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Hyperactivity, Aggressive behavior, Brachycephaly, Self-biting, High palate, Sho...	ORPHA:3306
Noonan Syndrome 13	Micrognathia, High palate, Widely spaced teeth, Microdontia, Generalized hirsutism, Joint laxity,...	OMIM:619087
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft lip...	OMIM:617925
Trisomy 20P	Micrognathia, Low anterior hairline, Brachycephaly, Reduced bone mineral density, Downturned corn...	ORPHA:261318
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Joint hypermobility, Joint stiffness, Pierre-Robin sequence, Cleft...	OMIM:619184
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Iliac crest serration, Small for gestational age, Micromelia, Wide distal femora...	OMIM:613320
Monosomy 18P	Generalized dystonia, Micrognathia, Carious teeth, Brachycephaly, Cleft palate, Downturned corner...	ORPHA:1598
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Abnormal...	OMIM:163200
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Cranial asymmetry, Low anterior hairline, Low poster...	OMIM:609128
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno...	ORPHA:1020
Weill-Marchesani Syndrome 1	Cataract, Joint stiffness, Broad metatarsal, Ectopia lentis, Broad skull, Microspherophakia, Hypo...	OMIM:277600
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Micrognathia, Brachycephaly, Failure to thrive, Smooth philtrum	OMIM:620240
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Skin rash	ORPHA:37748
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Wrist flexion con...	OMIM:121050
Adnp Syndrome	Abnormal finger morphology, Brachycephaly, Advanced eruption of teeth, Juvenile cataract, Iris co...	ORPHA:404448
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Blotching pigmentation of ...	OMIM:601559
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Short foot, Upslanted palpebral fissure, Radio...	ORPHA:11
Crouzon Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Brachycephaly, Narrow palate, Multiple ...	ORPHA:207
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Obesity	ORPHA:352530
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Obesity, Limited ...	OMIM:618821
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, ...	OMIM:179613
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony co...	OMIM:619638
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Abnormality of retinal pigmentation, Split hand, Flexion contracture, ...	OMIM:309900
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Congenital hip dislocation, Multiple joint contractures, Ho...	ORPHA:96170
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Neo...	OMIM:609638
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Sparse scalp hair,...	ORPHA:902
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Micrognathia, Conical tooth, Ankyloblepharon, Hyperconvex fingernails, Coarse hair, Widely spaced...	ORPHA:1071
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia...	OMIM:619752
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost...	ORPHA:666
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hypoplastic fingernail, Flat occiput, Overlapping toe, Cloverleaf skull, Craniosynos...	OMIM:123790
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depress...	ORPHA:449291
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Decreased body weight, Failure to thrive, Ataxia, Flat occiput, Inabili...	ORPHA:505237
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Limb ...	OMIM:618961
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Al Kaissi Syndrome	Thin upper lip vermilion, Broad-based gait, Torticollis, Macrodontia, High, narrow palate, Brachy...	OMIM:617694
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Malar flattening, Bilateral ptosis, Plagiocephaly,...	OMIM:180750
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Hyperactivity, Frontal bossing, Dental crowding, Aggressive behavior, O...	OMIM:616078
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Brachycephaly, Long eyelashes...	ORPHA:1514
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Micrognathia, Brachycephaly, Wide mouth, Smooth philtrum	OMIM:615419
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Sparse hair, Microdontia, Microre...	OMIM:278250
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Ataxia, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower li...	OMIM:616789
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the t...	ORPHA:94066
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Posterior plagiocephaly, Eyelid coloboma, Oligod...	OMIM:615873
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachycephaly, Cleft palat...	ORPHA:1790
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brac...	OMIM:309400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Frontal bossing, Thin fingernail, Abnormal dental morphology, Eczema, Tarsal syno...	ORPHA:85199
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Micrognathia, Thick vermilion border, Abnormal temper tantrums, Abnormal s...	ORPHA:530983
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl...	OMIM:609616
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Astigmatism, Widely...	OMIM:618067
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o...	OMIM:620370
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Micrognathia, Metaphyseal widening, Sparse hair, Megalocornea, Progress...	OMIM:252500
Orofaciodigital Syndrome Type 5	Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral...	ORPHA:2919
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Frontal bossing, Sclerotic scapulae, 2-3 finger syndactyly, De...	OMIM:269500
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Frontal bossing, Failure to thrive, Cataract, Epicanthus, Thick upper ...	OMIM:247200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Telecanthus, Short femur, Fractured radius, Small for gestational age, Decreased fibu...	OMIM:616897
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Highly arched ey...	OMIM:617452
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Synophrys, Atopic dermatitis, Brachycephaly, High pa...	OMIM:616854
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Cataract, Arachnodactyly, Telecanthus, Front...	ORPHA:377
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Cataract, Abnormality of the dentition, Supernumerary to...	ORPHA:627
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Pneumonia, Bowing of the legs, Hypop...	ORPHA:1855
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Glossoptosis, High palate, Rhizomelia, Squared iliac bones, Ulnar devia...	OMIM:611209
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Low anterior hairline, Downtur...	ORPHA:79500
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Con...	OMIM:602400
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Shallow orb...	OMIM:608328
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Absent eyelashes, An...	OMIM:275210
Cerebellar Ataxia-Hypogonadism Syndrome	Dementia, Ataxia, Brachycephaly	ORPHA:1173
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Sparse hair, Microdontia, Syndactyl...	OMIM:614091
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ...	ORPHA:289
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Inability to walk, Tremor, Limb tremor, Brachycephaly, High palate	OMIM:218000
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Ataxia, Micrognathia, Cleft palate, Plagiocephaly, Diminished ability to con...	OMIM:615656
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypop...	OMIM:133540
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Delayed eruption of primary teeth, Microg...	OMIM:609029
Cooper-Jabs Syndrome	Frontal bossing, Camptodactyly of finger, Proximal placement of thumb, Brachycephaly, Reduced bon...	ORPHA:1488
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurre...	ORPHA:83
Cranioectodermal Dysplasia 4	Frontal bossing, Sagittal craniosynostosis, Thin vermilion border, Taurodontia, Smooth philtrum	OMIM:614378
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Brachycephaly, Malar flattening, Abnorm...	ORPHA:93262
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Recurrent pneumonia, Flared metaphysis, P...	OMIM:215150
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn...	ORPHA:353281
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Flexion contractu...	OMIM:619720
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Brachycephaly, Downturned corners of mouth, Parietal bossing, ...	OMIM:264090
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis...	ORPHA:371428
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Dementia, Yellow-brown discolorat...	ORPHA:1946
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Dental crowding, Narrow mouth, Brachycephaly, High palate, Long philtrum, Midfac...	OMIM:615539
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Mandibular prognathia, Dental crowding, Metaphyseal widening, High palate, Clinodacty...	OMIM:620083
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Glossoptosis, Eyel...	ORPHA:861
Xylt1-Cdg	Joint laxity, Acne, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Truncal obesity, Shor...	ORPHA:370930
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Cataract, Abnormal dental morphology, Camptodactyly...	ORPHA:568
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Corneal opacity, Pneumonia, Joint stiffness, Dol...	OMIM:253200
Cockayne Syndrome Type 2	Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Flexion contract...	ORPHA:90322
Cerebellar-Facial-Dental Syndrome	Cataract, Foot joint contracture, Tapered finger, Sparse eyebrow, Micrognathia, Dental malocclusi...	ORPHA:444072
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h...	ORPHA:1190
Rhyns Syndrome	Osteopenia, Ptosis, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Thickened c...	OMIM:602152
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Eczema, Short long bone, Stillbirth, Camptodactyly, Neonatal death	OMIM:619751
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Thickened calvaria	OMIM:126550
Acrocephalopolydactyly	Epicanthus, Oxycephaly, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Dubowitz Syndrome	Micrognathia, Hypoplasia of the iris, High palate, Otitis media, Clinodactyly of the 5th finger, ...	OMIM:223370
9P13 Microdeletion Syndrome	Microretrognathia, Brachycephaly, Hand tremor, High palate, Attention deficit hyperactivity disor...	ORPHA:324313
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Duplication Of The Pituitary Gland	Midface retrusion, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Brac...	ORPHA:314621
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Brachycephaly, Dysmetria, Short philtrum, High palate, Abno...	ORPHA:96121
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Malar flattening, Absent radius, Ulnar bowing, Sp...	OMIM:171480
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Cdags Syndrome	Frontal bossing, Sparse scalp hair, Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Spars...	OMIM:603116
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Clinodac...	ORPHA:363611
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ...	ORPHA:101039
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Epicanthus, Abnormal dental morphology, Camptodacty...	ORPHA:2136
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Brachycephaly, Abnormal shape of the occiput, Malar flattening, Brachyturricepha...	OMIM:218350
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Eczema, Seborrheic dermatitis,...	ORPHA:369950
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U...	ORPHA:94068
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod...	OMIM:261990
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, ...	OMIM:617337
Laurence-Moon Syndrome	Brachycephaly, Ataxia, Obesity	ORPHA:2377
Distal Deletion 10Q	Thin upper lip vermilion, Frontal bossing, Ataxia, Craniosynostosis, Micrognathia, Aggressive beh...	ORPHA:96148
Squalene Synthase Deficiency	Epicanthus, Failure to thrive in infancy, Micrognathia, Elbow flexion contracture, 2-3 toe syndac...	OMIM:618156
Cerebrooculonasal Syndrome	Brachycephaly, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long ...	ORPHA:66625
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro...	OMIM:151210
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Hypoplastic ilia, Pa...	ORPHA:85201
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef...	ORPHA:158687
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp...	ORPHA:2309
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Brachycephaly, Short philtrum, Widely spaced teeth, Clinodactyly of th...	OMIM:280000
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Telecanthus, Alopecia, Conical tooth, Abnormality of the dentition, Brachycephal...	ORPHA:228390
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Hypopigmentation of the skin, Iris hypopigme...	OMIM:176270
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Osteolysis, Weight loss, Xanthelasma, A...	ORPHA:35687
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Overweight, Brachycephaly, Plagiocephaly, Obsessive-compulsive ...	ORPHA:500055
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Brachycephaly, Shoulder dislocation, Microdontia, Dislocated radial hea...	OMIM:245600
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Epicanthus, Micrognathia, Abnormality of hair texture, Synophrys, Abnor...	ORPHA:73223
Fibrochondrogenesis 2	Frontal bossing, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Sh...	OMIM:614524
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Gait ataxia, Malar flattening	OMIM:268850
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior hairline, Brachycephal...	OMIM:212720
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Recurrent fractures, Abnormality o...	ORPHA:3206
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Toot...	ORPHA:2250
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Brachycephaly, Long philtrum	OMIM:619972
Larsen-Like Syndrome	Joint laxity, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Cleft ...	OMIM:608545
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Ha...	OMIM:311200
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Brittle Cornea Syndrome 1	Joint laxity, Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea ...	OMIM:229200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Spina bifida oc...	OMIM:617360
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Brachycephaly, Attention deficit hyperactivity disorder, Microgna...	OMIM:620073
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Synophrys, Brachycephaly, Downturned corners of mouth, Coarse hair, High palate,...	OMIM:618268
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Protruding tongue, Obesity, Brachycephaly, Depression, Downturned corners of mouth,...	ORPHA:96147
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili...	ORPHA:309271
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hyperpigmentation of the skin	OMIM:175100
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Sanjad-Sakati Syndrome	Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormal...	ORPHA:2323
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Brachycephaly, Coxa vara, Inc...	OMIM:610968
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Clinodactyly of the 5th ...	OMIM:612582
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Low anterior hairline, Brachycephaly, Plagioce...	OMIM:616602
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Sparse hair,...	ORPHA:560
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Hyperconvex nail, Hi...	OMIM:239300
19P13.12 Microdeletion Syndrome	Hyperactivity, Craniosynostosis, Obesity, Cleft palate, Brachycephaly, Self-injurious behavior, T...	ORPHA:254346
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Micrognathia, Long fingers, Synophrys, High, narrow palate, Hip dislocation, Abn...	ORPHA:96092
Fg Syndrome Type 1	Broad-based gait, Dental crowding, Craniosynostosis, Micrognathia, Wide mouth, Prominent occiput,...	ORPHA:93932
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Incisor macrodonti...	OMIM:615502
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Cataract, Tented upper lip vermilion, Exaggerated cupid's bow, Cox...	OMIM:619833
Young-Onset Parkinson Disease	Short attention span, Restless legs, Dystonia, Impulsivity, Tremor, Depression, Frontal lobe deme...	ORPHA:2828
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Brachycephaly, High palate, Everted lower lip verm...	OMIM:612513
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Adducted thumb, Notched primary central incisor, High anterior hairline, Brach...	OMIM:620062
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Cataract, Dental crowding, Micr...	OMIM:300990
Desmosterolosis	Frontal bossing, Epicanthus, Rhizomelia, Micrognathia, Generalized osteosclerosis, Alveolar ridge...	OMIM:602398
Craniotubular Dysplasia, Ikegawa Type	Thickened calvaria, Metaphyseal dysplasia, Thin bony cortex, Epicanthus, Thick upper lip vermilio...	OMIM:619727
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va...	OMIM:250420
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Dolichocephaly, Brachycephaly, Macroglossia, High palate, Attention def...	ORPHA:357001
Shwachman-Diamond Syndrome	Osteopenia, Delayed eruption of teeth, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Ca...	ORPHA:811
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopi...	OMIM:252600
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Inability to walk, Brachycephaly, Cleft palate, Dysphagia, Downturned corners ...	OMIM:301041
Down Syndrome	Protruding tongue, Impaired pain sensation, Abnormality of the dentition, Thick lower lip vermili...	ORPHA:870
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Brachycephaly, High palate	ORPHA:314575
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Cerebellofaciodental Syndrome	Cataract, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening of all distal phalanges...	OMIM:616202
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia	OMIM:616029
Craniofrontonasal Syndrome	Ridged nail, Brachycephaly, Clinodactyly of the 5th finger, Joint laxity, Split nail, Broad hallu...	OMIM:304110
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Brachycephaly, Wide mouth, Long philtrum, Failure to thrive	OMIM:608776
Fetal Trimethadione Syndrome	Midface retrusion, High palate, Brachycephaly, Micrognathia	ORPHA:1913
20Q11.2 Microduplication Syndrome	Short attention span, Tented upper lip vermilion, Tented philtrum, Gingival overgrowth, Brachycep...	ORPHA:363659
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Thyroiditis, Eruption failure, Odontoma, Pancr...	ORPHA:733
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short...	OMIM:241410
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Ankyloblepharon, Tibial bowing, Thick upper lip v...	OMIM:612651
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Gait disturbance, Brachycephaly, Dolichocephaly	ORPHA:272
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Epicanthus, Craniosynostosis, Coxa valga, Brachycephaly, Ups...	ORPHA:2163
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Incontinentia Pigmenti	Ridged nail, Conical tooth, Uveitis, Abnormality of skin pigmentation, Oligodontia, Coarse hair, ...	OMIM:308300
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormal primary molar morphology, Hypodontia, Microdontia, Failure to...	ORPHA:1830
Woolly Hair Nevus	Curly hair, Brachydactyly, Patchy hypopigmentation of hair, Congenital posterior occipital alopec...	ORPHA:79414
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Deep philtrum, Micrognathia	ORPHA:1237
Gardner Syndrome	Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Odontoma, Multiple unerupted te...	ORPHA:79665
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Brachycephaly, Athetosis, Narrow mouth, Failure to thrive	OMIM:219150
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Proximal placement of thumb, Limited elbow movement, Micrognathia, Synophrys, Low ...	OMIM:610759
Distal Deletion 12Q	Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypoplasia of the middle phalanx of the...	ORPHA:96149
Fibrochondrogenesis 1	Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, M...	OMIM:228520
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Brachycephaly, Posterior plagiocephaly, High palate, Abnormal repetitive m...	OMIM:620330
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Cataract, Odontogenic keratocysts of the jaw, Large for ge...	ORPHA:77301
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Aplasia/Hypoplasia of the fibula, Mic...	ORPHA:2256
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Low anterior hairline, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occ...	OMIM:618736
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
2P15P16.1 Microdeletion Syndrome	Failure to thrive, Brachycephaly, Dysphagia, High palate, Everted lower lip vermilion, Attention ...	ORPHA:261349
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ataxia, Abnormality of the dentition, Large for gestational age, Deep philtrum, Brachycephaly, Do...	OMIM:615398
Usher Syndrome	Abnormality of dental color, Ataxia, Abnormal dental enamel morphology, Carious teeth, Vestibular...	ORPHA:886
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Dental crowding, Obesity, Brachycephaly, Plagiocephaly, Tip-toe gait, Short phil...	OMIM:617296
Autoimmune Hypoparathyroidism	Increased bone mineral density, Cataract, Conjunctivitis, Chronic mucocutaneous candidiasis	ORPHA:36913
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eye...	OMIM:167210
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Seborrheic dermatitis, Tapered finger, Flexion...	OMIM:301072
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c...	ORPHA:79474
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Micrognathia, Deep philtrum, Brachycephaly, Coarse hair, High palate, Clinodactyly of t...	ORPHA:1974
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E...	ORPHA:309263
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Tooth ...	OMIM:309800
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Protruding tongue, Gingival overgrowth, Narrow mouth, Limb undergrow...	OMIM:230600
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Distal Deletion 3P	Micrognathia, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermilion border, Hi...	ORPHA:1620
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, High palate, Brachycephaly, Micrognathia	OMIM:618142
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Ptosis, Epicanthus, Craniosyno...	ORPHA:794
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Micrognathia, Osteolytic defects of the phalanges of t...	ORPHA:280365
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, Synophrys, Low anterior hairline, Brachyce...	ORPHA:199
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Shallow orb...	ORPHA:798
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
Spondyloocular Syndrome	Long toe, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Abnormality of t...	OMIM:605822
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of ski...	OMIM:216400
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Sclerocornea, Micrognathia, Biparietal narrowing, Advanced eruption ...	ORPHA:818
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Recurrent fractures, Micrognathia, Dentinogenesis imperfecta, Reduce...	OMIM:112240
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Carious teeth, Gen...	ORPHA:2834
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Highly arched ey...	OMIM:614701
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Micrognathia, Inability to walk, Dysphagia, Abnormal repetitive mannerisms	OMIM:617802
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Ataxia, Micrognathia, Brachycephaly, Downturne...	ORPHA:247262
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Hypoplastic toenails, Brachycephaly, Symphalangism affecting the phalanges of the hand, Biparieta...	ORPHA:1292
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Brachy...	OMIM:601701
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Ataxia, Micrognathia, Narrow mouth, Brachycephaly, High palate, Long philtrum, Smoot...	ORPHA:562528
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology, ...	ORPHA:177910
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Upslant...	OMIM:231050
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac...	ORPHA:1865
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Eczema, Gingival overgrowth...	ORPHA:508542
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Inability to walk, Deep philtrum, Abnormal social behavior, Irritabili...	ORPHA:1675
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, High, narrow palate, Synophrys, Low anterior hairline, Brachycephaly...	OMIM:613776
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Waardenburg Syndrome Type 1	Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Tented upper lip vermilion, H...	ORPHA:894
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand...	ORPHA:56304
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, Abnormal bone ossificatio...	ORPHA:175
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Conjunctivitis, Short philtrum, Chronic otiti...	OMIM:616268
Nabais Sa-De Vries Syndrome, Type 1	Self-injurious behavior, Brachycephaly, Smooth philtrum	OMIM:618828
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of m...	OMIM:619950
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Thin upper lip vermilion, High palate, Brachycephaly	OMIM:618862
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Onychauxis, High palate, Advanced eruption of t...	OMIM:262190
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Torticollis, Dental crowding,...	OMIM:618371
Prader-Willi Syndrome Due To Translocation	Flat occiput, Micrognathia, Downturned corners of mouth, High palate, Compulsive behaviors, Abnor...	ORPHA:177907
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplastic fifth toenail, Spa...	ORPHA:1465
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Lateral...	OMIM:300166
Achondroplasia	Frontal bossing, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx ...	ORPHA:15
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Leukonychia, Weight loss, ...	ORPHA:2905
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Thickened calvaria, Synophrys, Downturned corners of mouth, Short philtrum, Sparse ha...	ORPHA:3455
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Micromelia, Micrognathia, Short long bone, Talipes equinovaru...	OMIM:224410
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Recurrent otitis media, Recurrent aphthous stomatitis, Chronic oral candidiasis	OMIM:301078
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Lip pit, Brachycephaly, Hypodontia, Cognitive impairment,...	ORPHA:1236
Cerebrooculonasal Syndrome	Frontal bossing, Epicanthus, Sparse eyelashes, Craniosynostosis, Postaxial polydactyly, Sparse ey...	OMIM:605627
White-Sutton Syndrome	Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Obesity, Brachycephaly, Downturned ...	ORPHA:468678
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Wide mouth, Sparse or absent eyelashes, Breas...	ORPHA:1231
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Large for gestational age, Micrognathia, Hypoplasia of t...	OMIM:213980
Koolen-De Vries Syndrome	Vertebral fusion, Epicanthus, Cataract, Arachnodactyly, Abnormal dental enamel morphology, Hypopi...	ORPHA:96169
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Developmental cataract, Thickened cort...	OMIM:127000
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Conical tooth, Sparse eyebrow,...	OMIM:613451
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humero...	OMIM:207410
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Ataxia, Dental crowding, Delayed eruption of primary teeth, Aggressive...	OMIM:617799
Usher Syndrome Type 2	Abnormality of dental color, Ataxia, Abnormal dental enamel morphology, Carious teeth, Depression...	ORPHA:231178
Coffin-Siris Syndrome 1	Dry hair, Conical tooth, Brachycephaly, Prominent interphalangeal joints, Short philtrum, High pa...	OMIM:135900
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Cataract, Osteomalacia, Recurrent fractu...	ORPHA:1652
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Clinodactyly of the 5th fi...	OMIM:616580
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Osteopathia stri...	OMIM:305600
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of perm...	OMIM:618644
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Thick vermilion border, Everted lower lip vermilion, Difficulty walking, Brachytur...	OMIM:300280
Aymé-Gripp Syndrome	Brachycephaly, Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Tapered...	ORPHA:1272
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Oculodentodigital Dysplasia	Ataxia, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High...	OMIM:164200
Orofaciodigital Syndrome Iii	Hyperconvex nail, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot...	OMIM:258850
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Wide mouth, Thick vermilion border, Brachycephaly	ORPHA:85290
Cockayne Syndrome Type 1	Mandibular prognathia, Cataract, Foot joint contracture, Hypermelanotic macule, Delayed eruption ...	ORPHA:90321
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Short attention span, Ataxia, Confusion, Craniosynostosis, Cranial hyperos...	ORPHA:309282
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Micr...	OMIM:613610
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Abnormality ...	ORPHA:2315
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Microcornea, High pa...	ORPHA:536467
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Micrognathia, Hirsutism, Upslanted palpebral fissure, Short...	OMIM:617237
Alg12-Cdg	Thin upper lip vermilion, Epicanthus, Sandal gap, Proximal placement of thumb, Micrognathia, Long...	ORPHA:79324
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Frontal bossing, Sinusitis, Abnormal dental morphology, Eczema, Slow-grow...	ORPHA:238468
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Frontal bossing, Hyperactivity, Exaggerated cupid's bow, Micrognathia, Nar...	OMIM:619512
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro...	ORPHA:2633
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, Ham...	OMIM:269860
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Epicanthus, Synophrys, Thick lower lip vermilion, Flared metaphysis, Advanced ossif...	OMIM:610442
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Gingival bleeding, Pathol...	ORPHA:77259
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo...	ORPHA:2916
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Almond-shaped palpebral fissure, ...	ORPHA:398079
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Abnormality of the dentition, Avascular necrosis of the capi...	ORPHA:93315
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353277
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Epicanthus, Brachydactyly, Lacrimal duct stenosis, C...	ORPHA:457193
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Aggressive behavior, Brachycephaly, High pa...	OMIM:619244
Woolly Hair	Hypopigmentation of hair, Cataract, Slow-growing hair, Brittle hair, Abnormality of hair texture,...	ORPHA:170
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na...	ORPHA:1811
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Tapered finger, Narrow mouth, Craniofacial asymmetry, Midfa...	OMIM:601088
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermi...	ORPHA:86818
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Tapered finger, Submucous cleft hard palate, Obesity, Upsla...	OMIM:619680
Ritscher-Schinzel Syndrome 1	Prominent occiput, Brachycephaly, Cleft palate, Micrognathia	OMIM:220210
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Carious teeth, Osteoporosis, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, In...	ORPHA:79259
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Partial duplication of the dista...	OMIM:101400
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Non-midline cleft lip, Upper eyelid co...	ORPHA:1791
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Small hand, Spina bifida occulta, Short foo...	ORPHA:488434
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Telecanthus, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephal...	OMIM:109120
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Abnormality of the dentition...	ORPHA:93
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Short metacarpal, Ptosis, Long eyebrows, Cleft upper lip, Wi...	OMIM:201180
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Abnormal pupil morphology, ...	ORPHA:233
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ...	OMIM:139210
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R...	ORPHA:140
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad hallux, Shortening of all distal phalanges of the fingers, Clef...	OMIM:614749
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f...	ORPHA:3103
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Neuromuscular dysphagia, Scissor gait, Dystonia, Loss of ambulation, Macrodo...	ORPHA:466722
Bardet-Biedl Syndrome 8	Brachycephaly, Obesity	OMIM:615985
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Intellectual Developmental Disorder, Autosomal Dominant 53	Unsteady gait, Brachycephaly, Wide mouth, Irritability, Posterior plagiocephaly	OMIM:617798
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Cataract, Calcification of the auricular cartilage, Synophrys, Bone cyst, Flexio...	ORPHA:3042
Lig4 Syndrome	Epicanthus, Psoriasiform dermatitis, Small for gestational age, Low anterior hairline, Brachyceph...	OMIM:606593
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of the dentition,...	ORPHA:739
Branchioskeletogenital Syndrome	Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Synophrys, Brachycephaly,...	ORPHA:1299
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea	OMIM:110100
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Dysmetria, ...	OMIM:618056
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Thanatophoric Dysplasia, Type I	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy...	OMIM:187600
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Limited knee extension, W...	ORPHA:239
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Restrictive Dermopathy	Osteopenia, Natal tooth, Telecanthus, Multiple joint contractures, Entropion, Camptodactyly of fi...	ORPHA:1662
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Failure to thrive, Ataxia	OMIM:616881
Opitz Gbbb Syndrome	Natal tooth, Telecanthus, Craniosynostosis, Micrognathia, Cleft lip, Widow's peak, Cleft palate, ...	ORPHA:2745
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Brachycephaly, Dysphagia	OMIM:612379
Polycythemia Vera	Myelofibrosis, Gingival bleeding, Weight loss	ORPHA:729
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Thick hair, Abnormality of the dentition, Onychauxis, Low...	ORPHA:769
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Micrognathia, Brachycephaly, Microcornea, High palate, Sparse hair, C...	OMIM:244450
Warburg Micro Syndrome 3	Micrognathia, Inability to walk, Brachycephaly, Narrow palate, Downturned corners of mouth	OMIM:614222
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:3220
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri...	ORPHA:845
Schinzel-Giedion Midface Retraction Syndrome	Midface retrusion, Increased density of long bones, Hyperconvex nail, Wide distal femoral metaphy...	OMIM:269150
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p...	OMIM:257980
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Overweight, Recurrent pneumonia, Astigmatism	OMIM:619769
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Flexion contracture, Brachycephaly, Oligodontia, High palate, Short p...	OMIM:309590
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Tented upper lip vermilion, Micrognathia, Dysphagia, High palate, C...	OMIM:617527
Carpenter Syndrome 2	High, narrow palate, Ectropion of lower eyelids, Preaxial polydactyly, Brachycephaly, Coxa vara, ...	OMIM:614976
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Abnormality of the nail, Pancreatitis, Generalized hirsutism	ORPHA:2348
Achard Syndrome	Broad skull, Brachycephaly, Micrognathia	OMIM:100700
Essential Thrombocythemia	Myelofibrosis	ORPHA:3318
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Almond-shaped palpebral fissure,...	ORPHA:98754
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Tapered finger, Long fingers, ...	ORPHA:521445
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints,...	ORPHA:3260
Kbg Syndrome	Tented upper lip vermilion, Macrodontia, Brachycephaly, Widely-spaced maxillary central incisors,...	OMIM:148050
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Obesity, Wide mouth, Hypopigmentation of the ski...	ORPHA:411515
Sweeney-Cox Syndrome	Flat occiput, Micrognathia, Low anterior hairline, Brachycephaly, High palate, Short philtrum, 2-...	OMIM:617746
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Small for gestational age, Almond...	ORPHA:177901
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Sparse hair, Bifid uvula, Iris colobom...	OMIM:620186
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Almond-shaped palpebral fissure,...	ORPHA:98793
Waardenburg Syndrome Type 2	Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi...	ORPHA:895
Warburg Micro Syndrome 4	Inability to walk, Long philtrum, Brachycephaly, Narrow mouth	OMIM:615663
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis	OMIM:617441
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Weight loss, F...	ORPHA:2221
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ptosis, Highly arched eyebrow, Short toe, Widow's peak, Brachycephaly, Orofaci...	ORPHA:1519
Stevenson-Carey Syndrome	Downturned corners of mouth, Pierre-Robin sequence, Brachycephaly, Narrow mouth	OMIM:611961
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Almond-shaped palpebral fissure,...	ORPHA:177904
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ...	ORPHA:369837
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hyp...	OMIM:305100
Cockayne Syndrome	Dry hair, Congenital contracture, Lentiglobus, Abnormal dental morphology, Agenesis of permanent ...	ORPHA:191
Aica-Ribosuria Due To Atic Deficiency	Wide mouth, Thin upper lip vermilion, Frontal bossing, Brachycephaly	OMIM:608688
Frontonasal Dysplasia 3	Brachycephaly, Cleft palate	OMIM:613456
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Arachnodactyly, Corneal opacity, Ectropion, Abnormal thumb mo...	ORPHA:2719
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Short femur, Metaphyseal spurs, Recurrent fractures, Brachycephaly, ...	OMIM:618188
Myelofibrosis	Myelofibrosis	OMIM:254450
Alg9-Cdg	Micrognathia, Brachycephaly, Narrow greater sciatic notch, Shallow orbits, Abnormal bone ossifica...	ORPHA:79328
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,...	ORPHA:85167
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Cleft palate, Furrowed tongue, Plagiocephaly, Downturned corners of...	ORPHA:453499
Niemann-Pick Disease Type C	Limb dystonia, Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive...	ORPHA:646
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis	OMIM:616604
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Cataract, Rocker bottom foot, Tapered finger, Narrow mouth, Absent axil...	OMIM:601353
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Brach...	OMIM:612289
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Almond-shaped palpebral fissure, ...	ORPHA:398069
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth	OMIM:618797
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Shallo...	OMIM:619127
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Metaph...	OMIM:250250
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, Bilateral coxa valga, Bif...	OMIM:615582
Charge Syndrome	Delayed eruption of teeth, Ptosis, Epicanthus, Highly arched eyebrow, Cleft upper lip, Abnormal s...	ORPHA:138
Congenital Disorder Of Deglycosylation 1	Restlessness, Pain insensitivity, Oral-pharyngeal dysphagia, Chorea, Brachycephaly, Dysmetria, At...	OMIM:615273
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown dis...	OMIM:104570
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Brachycephaly, Intention tremor	OMIM:619995
9Q33.3Q34.11 Microdeletion Syndrome	Telecanthus, Highly arched eyebrow, Abnormal hair pattern, Patellar aplasia, Tented philtrum, Bra...	ORPHA:495818
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence...	ORPHA:263508
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Micrognathia, Long fingers, Brachycephaly, Cleft palate, Microcornea, Upslanted palpe...	OMIM:156610
Menkes Disease	Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f...	ORPHA:565
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand poly...	OMIM:617088
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Thin upper lip vermilion, Ataxia, Brachycephaly, Dysmetria, Failure to thrive	ORPHA:456312
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Mandibular prognathia, Dental crowding, Synophrys, Brachycephaly, High palate,...	ORPHA:3063
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Prominent fingertip pads, Sparse hair...	OMIM:305450
Baller-Gerold Syndrome	Frontal bossing, Failure to thrive in infancy, Micrognathia, Brachycephaly, Cleft palate, High pa...	ORPHA:1225
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Brachycephaly, Reduced bone mineral de...	OMIM:259050
Lig4 Syndrome	Thin vermilion border, Brachycephaly, Biparietal narrowing, Micrognathia	ORPHA:99812
Sandhoff Disease	Exaggerated startle response, Ataxia, Impaired temperature sensation, Progressive psychomotor det...	OMIM:268800
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5t...	OMIM:274000
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoax...	OMIM:146510
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Gray Platelet Syndrome	Myelofibrosis	OMIM:139090
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Telecanthus, Cataract, Palpebral edema, Abnormal fingernail morphology...	ORPHA:2036
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Brachycephaly, Abnormal periodontium morphology, High pal...	ORPHA:480880
Fucosidosis	Failure to thrive, Brachycephaly, Abnormality of the dentition	ORPHA:349
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Trismus, Deep philtrum...	OMIM:227330
Acute Panmyelosis With Myelofibrosis	Myelofibrosis	ORPHA:86843
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Corneal opacity, Recurrent fractures, ...	ORPHA:355
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Williams Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Clinodactyly of the 5th finger, Chronic otitis me...	ORPHA:904
Alagille Syndrome	Frontal bossing, Micrognathia, Brachycephaly, Short philtrum, Failure to thrive	ORPHA:52
Pfeiffer Syndrome	Mandibular prognathia, Cloverleaf skull, Dental crowding, Hypoplasia of the maxilla, High palate,...	OMIM:101600
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Thin upper lip vermilion, Blepharophimosis, Metatarsus adductus, Premature ...	OMIM:611962
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social...	ORPHA:309256
Congenital Disorder Of Glycosylation, Type Iit	Thick vermilion border, Tented upper lip vermilion, Short philtrum, Brachycephaly	OMIM:618885
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Hypoplasia of the zygomatic bone, Brachycephaly, Long philtrum	OMIM:614800
Developmental And Epileptic Encephalopathy 49	Frontal bossing, Hyperactivity, Tented upper lip vermilion, Exaggerated startle response, Short p...	OMIM:617281
Acrofrontofacionasal Dysostosis 2	High palate, Brachycephaly	OMIM:239710
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Micrognathia, Brachycephaly, Cleft palate, Long philtrum, Malar flatte...	OMIM:257300
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Large for gestational age, Thick lower lip vermilion, Cranial asymmetry...	ORPHA:137634
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly	OMIM:607597
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, High palate, Spina bifi...	OMIM:218600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Brachycephaly, Narrow palate, Cleft palate, Attention deficit hyperactivity disorder	OMIM:618223
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Large for gestational age, Micrognathia, Hypop...	ORPHA:96334
Fibrochondrogenesis	Hypoplastic fingernail, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior ...	ORPHA:2021
Monosomy 9P	Proximal placement of thumb, Micrognathia, Synophrys, Brachycephaly, High palate, Thin nail, High...	ORPHA:261112
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia, Dolichocephaly, Trigonocephaly, Retrognathia	OMIM:617301
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the jaw	ORPHA:199276
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Abnormal fingernail morphology, Craniosynostosis, Supernumera...	ORPHA:1521
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Synophrys, Brachycephaly, Widely spaced teeth, High palate, ...	OMIM:612474
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Mandibular prognathia, Micrognathia, Deep philtrum, Fragile nails,...	OMIM:150230
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Protruding tongue, Obesity, Wide m...	ORPHA:411511
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High pala...	OMIM:617022
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl...	ORPHA:508488
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ...	ORPHA:897
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Corneal dystroph...	ORPHA:2673
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis	OMIM:187900
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Highly arched eyebrow, Proximal placement of thumb, Abnormality ...	ORPHA:2988
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, Flat occiput, ...	ORPHA:98794
Floating-Harbor Syndrome	Short attention span, Restlessness, Broad-based gait, Small for gestational age, Impulsivity, Per...	ORPHA:2044
Cree Mental Retardation Syndrome	Brachycephaly, Cleft soft palate, Micrognathia	OMIM:606851
Gm1 Gangliosidosis Type 1	Frontal bossing, Gingival overgrowth, Macroglossia, Flared iliac wing, Short long bone, Aspiratio...	ORPHA:79255
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pre...	OMIM:619488
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High pa...	ORPHA:444077
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathe...	ORPHA:522077
Primary Hyperoxaluria	Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab...	ORPHA:416
Opsismodysplasia	Frontal bossing, Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat ...	OMIM:258480
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Thin upper lip vermilion, Highly arched eyebrow, Tapered finger, Hypoplastic toe...	OMIM:616728
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Protruding tongue, Micrognathia, High, narrow palate, Unsteady gait, Macroglossia, ...	OMIM:214100
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Gm2-Gangliosidosis, Ab Variant	Chorea, Dementia, Exaggerated startle response, Dystonia	OMIM:272750
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short attention span, Failure to thrive, Frontal bossing, Dental crowding, Obesity, Brachycephaly...	OMIM:617157
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Midface retrusion, Broad philtrum	ORPHA:1394
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin...	OMIM:249000
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Ataxia, Brachycephaly, Dysmetria, Failure to thrive, Midface retrusion	OMIM:616263
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morphology, Calcaneoval...	ORPHA:261552
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Short lingual frenulum, Flexion co...	OMIM:619479
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Mend Syndrome	Hyperactivity, Asymmetry of the mouth, Micrognathia, Aggressive behavior, Cleft palate, Abnormal ...	ORPHA:401973
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Hyperp...	OMIM:601803
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Ataxia, Cleft soft palate, Small for gestational age, Failure to thrive in infa...	ORPHA:268261
Castleman Disease	Myelofibrosis, Weight loss	ORPHA:160
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Sclerocornea, Lacrimal duct atresia, Hyperpigmented streaks, F...	OMIM:300952
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of the dentition, Brachycephaly, Cleft palate, Long philtrum, Bifid uvula, Smooth phi...	OMIM:300968
Orofaciodigital Syndrome Type 14	Microretrognathia, Telecanthus, Broad hallux, Deviation of the hallux, Accessory oral frenulum, H...	ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Tented upper lip vermilion, Dystonia, Micrognathia, High palate, Lo...	ORPHA:521426
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe...	OMIM:613091
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Abnormal size of the palpebral fissures, Corneal dystrophy, Camptodactyly ...	ORPHA:1101
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin...	ORPHA:3440
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail	OMIM:601319
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Telecanthus, Broad hallux, Hamartoma of tongue, Micrognathia, Cle...	OMIM:615948
Progressive Non-Infectious Anterior Vertebral Fusion	Micrognathia, Brachycephaly, Wide mouth, Thin vermilion border, Short philtrum	ORPHA:2062
Acromelic Frontonasal Dysplasia	Wide mouth, Brachycephaly, Median cleft lip, Median cleft palate	ORPHA:1827
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Pigmentary retinopathy, Decrease...	OMIM:266270
Frontofacionasal Dysplasia	Telecanthus, Cataract, Cleft upper lip, Brachycephaly, Ankyloblepharon, Orofacial cleft, Microcor...	OMIM:229400
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High pal...	OMIM:268300
Pallister-Hall Syndrome	Large for gestational age, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, ...	ORPHA:672
Ring Chromosome 7 Syndrome	Unilateral ptosis, Mandibular prognathia, Low anterior hairline, Brachycephaly, Abnormality of sk...	ORPHA:1449
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, ...	OMIM:182212
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Asparagine Synthetase Deficiency	Exaggerated startle response, Micrognathia, Tremor, Irritability, Failure to thrive	OMIM:615574
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Sotos Syndrome	No permanent dentition, Flexion contracture, Chronic otitis media, Hypopigmentation of the skin, ...	ORPHA:821
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Micrognathia, Supernumerary tooth, Osteoporosis, Recurr...	OMIM:619525
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis...	ORPHA:999
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Microphthalmia, Syndromic 6	Sclerocornea, Micrognathia, Brachycephaly, Microcornea, High palate, Clinodactyly of the 5th fing...	OMIM:607932
Bifid Nose With Or Without Anorectal And Renal Anomalies	Widely-spaced maxillary central incisors, Brachycephaly, Short lingual frenulum, Short philtrum	OMIM:608980
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee...	ORPHA:98795
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Epicanthus, Cataract, Micrognathia, Small hand, Brachycephaly, Cleft palat...	ORPHA:85276
Vici Syndrome	Epicanthus, Cataract, Median cleft lip, Everted upper lip vermilion, Hypopigmentation of hair, Mi...	OMIM:242840
Chromosome 1P36 Deletion Syndrome, Distal	Frontal bossing, Midface retrusion, Cleft upper lip, Aggressive behavior, Self-mutilation, Submuc...	OMIM:607872
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Brachycephaly, High palate, Short philtrum, Sp...	OMIM:309500
Congenital Myopathy 13	Micrognathia, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Midface retr...	OMIM:255995
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Congenital hip dislocation, Microg...	OMIM:606170
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus, Depression	OMIM:184850
Faundes-Banka Syndrome	Broad eyebrow, Epicanthus, Frontal bossing, Thin upper lip vermilion, Sparse scalp hair, Microgna...	OMIM:619376
Holoprosencephaly 7	Frontal bossing, Midface retrusion, Flat occiput, Median cleft lip, Hypoplasia of the premaxilla,...	OMIM:610828
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Cystinosis, Nephropathic	Frontal bossing, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epitheli...	OMIM:219800
Hyperekplexia-Epilepsy Syndrome	Trigonocephaly, Exaggerated startle response	ORPHA:163985
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, High ...	OMIM:613658
Acromelic Frontonasal Dysostosis	Cleft upper lip, Parietal foramina, Brachycephaly, Cleft palate, U-Shaped upper lip vermilion	OMIM:603671
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Abnormal dental enamel morphology, Ocular a...	ORPHA:79430
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
1P36 Deletion Syndrome	Frontal bossing, Narrow mouth, Polyphagia, Obesity, Dysphagia, Brachycephaly, Self-injurious beha...	ORPHA:1606
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Frontal bossing	OMIM:300291
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Mowat-Wilson Syndrome	Delayed eruption of teeth, Cataract, Supernumerary nipple, Submucous cleft hard palate, Cleft pal...	OMIM:235730
Developmental And Epileptic Encephalopathy 8	Trigonocephaly, Exaggerated startle response	OMIM:300607
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Flat occiput, Brachycephaly, Long philtrum	ORPHA:2211
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Frontal bossing, Turricephaly, Craniosynostosis, High, narrow palate, Brachycephaly, Narrow mouth...	ORPHA:95699
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly	OMIM:619859
Pfeiffer Syndrome Type 3	Brachyturricephaly, High palate, Midface retrusion, Cleft palate	ORPHA:93260
14Q22Q23 Microdeletion Syndrome	Downturned corners of mouth, Malar flattening, Brachycephaly, Micrognathia	ORPHA:264200
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal dental morphology, Small for gestational age, Craniosynostosis, Everted lower lip vermil...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal dental morphology, Small for gestational age, Craniosynostosis, Everted lower lip vermil...	ORPHA:363958
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self...	ORPHA:805
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Bra...	OMIM:263520
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormali...	ORPHA:79432
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Tongue fasciculations	OMIM:608800
Warburg Micro Syndrome 2	Brachycephaly	OMIM:614225
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Dysesthesia, Brachycephaly, Cleft palate, High palat...	OMIM:601776
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Silver-gray hair, Ocular albinism,...	OMIM:214500
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Brachycephaly, Limb ataxia, Abnormal temper tantrums	ORPHA:2072
Viss Syndrome	Microretrognathia, Frontal bossing, Failure to thrive, Cleft soft palate, Micrognathia, Dolichoce...	OMIM:619472
Noonan Syndrome With Multiple Lentigines	Brachycephaly	ORPHA:500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Cleft lip, Brachycephaly, Cleft palate, Retrognathia	OMIM:265380
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Carious teeth, Downturned corners of mouth, Thick vermilion border,...	OMIM:619522
Down Syndrome	Macroglossia, Malar flattening, Brachycephaly, Protruding tongue	OMIM:190685
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Peters Plus Syndrome	Thin upper lip vermilion, Frontal bossing, Exaggerated cupid's bow, Cleft upper lip, Micrognathia...	ORPHA:709
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micrognathia, Retrognathia, Cleft palate, Brachyturricephaly, Narrow mouth, Coronal craniosynosto...	ORPHA:83617
Common Variable Immunodeficiency	Failure to thrive in infancy, Brachycephaly	ORPHA:1572
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Cloverleaf skull, Small for gestational age, Craniosynostosis, Brachycephaly, Ma...	OMIM:201750
Turner Syndrome Due To Structural X Chromosome Anomalies	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99413
Mosaic Monosomy X	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99228
Monosomy X	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99226
Turner Syndrome	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:881
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, P...	ORPHA:163746
Aspartylglucosaminuria	Hypoplastic frontal sinuses, Thick lower lip vermilion, Brachycephaly, Wide mouth, Macroglossia, ...	OMIM:208400
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Deep philtrum, Dysph...	ORPHA:438213
Colorectal Cancer		OMIM:114500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Src

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Src.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Srcap^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Src^{tm2a(EUCOMM)Wtsi} Srcap^{em1(IMPC)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Src^{tm1a(EUCOMM)Wtsi}	PMC6459510
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Src^{tm2a(EUCOMM)Wtsi}	PMC4631787

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Src^{em2(IMPC)Wtsi}	Point Mutation	Mice
Src^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Src^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Src^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Src^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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