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Gene: Cbx2 MGI:88289

Gene Summary

Name:

chromobox 2

Synonyms:

M33

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
persistence of hyaloid vascular system	Cbx2^{tm1b(KOMP)Wtsi}	HET	Early adult	1.87×10^-06
increased grip strength	Cbx2^{tm1b(KOMP)Wtsi}	HET	Early adult	3.54×10^-10
preweaning lethality, complete penetrance	Cbx2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	75% (3 of 4)
Brain	Wholemount images	heterozygote	100% (4 of 4)
Brainstem	Wholemount images	heterozygote	100% (4 of 4)
Cerebellum	Wholemount images	heterozygote	100% (4 of 4)
Cerebral cortex	Wholemount images	heterozygote	100% (4 of 4)
Heart	Wholemount images	heterozygote	100% (4 of 4)
Hippocampus	Wholemount images	heterozygote	100% (4 of 4)
Hypothalamus	Wholemount images	heterozygote	100% (4 of 4)
Olfactory lobe	Wholemount images	heterozygote	100% (4 of 4)
Oviduct	Wholemount images	heterozygote	50% (2 of 4)
Peripheral nervous system	Wholemount images	heterozygote	100% (4 of 4)
Spinal cord	Wholemount images	heterozygote	75% (3 of 4)
Striatum	Wholemount images	heterozygote	100% (4 of 4)
Testis	Wholemount images	heterozygote	50% (2 of 4)
Aorta	N/A	heterozygote	0.0% (0 of 4)
Bone	N/A	heterozygote	0.0% (0 of 4)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 4)
Esophagus	N/A	heterozygote	0.0% (0 of 4)
Eye	N/A	heterozygote	0.0% (0 of 4)
Gall bladder	N/A	heterozygote	0.0% (0 of 4)
Kidney	N/A	heterozygote	25% (1 of 4)
Large intestine	N/A	heterozygote	0.0% (0 of 4)
Liver	N/A	heterozygote	0.0% (0 of 4)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 4)
Lung	N/A	heterozygote	0.0% (0 of 4)
Lymph node	N/A	heterozygote	0.0% (0 of 4)
Mammary gland	N/A	heterozygote	0.0% (0 of 4)
Oral epithelium	N/A	heterozygote	0.0% (0 of 4)
Ovary	N/A	heterozygote	0.0% (0 of 4)
Pancreas	N/A	heterozygote	0.0% (0 of 4)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 4)
Peyer's patch	N/A	heterozygote	0.0% (0 of 4)
Pituitary gland	N/A	heterozygote	0.0% (0 of 4)
Prostate gland	N/A	heterozygote	0.0% (0 of 4)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	heterozygote	0.0% (0 of 4)
Small intestine	N/A	heterozygote	0.0% (0 of 4)
Spleen	N/A	heterozygote	0.0% (0 of 4)
Stomach	N/A	heterozygote	0.0% (0 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	0.0% (0 of 4)
Trachea	N/A	heterozygote	0.0% (0 of 4)
Uterus	N/A	heterozygote	0.0% (0 of 4)
Vascular system	N/A	heterozygote	0.0% (0 of 4)
White adipose tissue	N/A	heterozygote	0.0% (0 of 4)

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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Adult LacZ

LacZ Images Wholemount

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Cbx2 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 Cbx2 (2 diseases)
Human diseases predicted to be associated with Cbx2 (617 diseases)

The table below shows human diseases associated to Cbx2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
46,Xy Sex Reversal 5		Elevated circulating follicle stimulating hormone level, Sex reversal	OMIM:613080
46,Xy Complete Gonadal Dysgenesis		Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242

The table below shows human diseases predicted to be associated to Cbx2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum	OMIM:615709
Cervical Vertebral Dysplasia	Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d...	OMIM:118005
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
46,Xy Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid...	ORPHA:325345
Tetragametic Chimerism	Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin...	ORPHA:199310
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae	OMIM:616566
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula...	OMIM:400045
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas...	OMIM:278850
46,Xy Sex Reversal 9	Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis, Sex reversal	OMIM:616067
Isochromosomy Yq	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici...	ORPHA:98798
46,Xy Sex Reversal 8	Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism	OMIM:614279
Denys-Drash Syndrome	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema...	OMIM:194080
Isochromosomy Yp	Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ...	ORPHA:98797
46,Xy Sex Reversal 1	Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse...	OMIM:400044
Idiopathic Isolated Micropenis	Hypospadias, Ambiguous genitalia, Micropenis	ORPHA:95707
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou...	ORPHA:261529
46,Xy Sex Reversal 10	Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo...	OMIM:616425
Testicular Anomalies With Or Without Congenital Heart Disease	Ambiguous genitalia, Abnormality of thyroid physiology, Microphallus, Cryptorchidism, Corpus cave...	OMIM:615542
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size	ORPHA:393
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Mcdonough Syndrome	Dental malocclusion, Mandibular prognathia, Kyphosis, Micrognathia, Cachexia, Short philtrum, Abn...	ORPHA:2471
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Primary Basilar Invagination	Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology	ORPHA:2285
Testicular Regression Syndrome	Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit...	ORPHA:983
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Serkal Syndrome	Malrotation of small bowel, Sex reversal, Hypospadias, Orofacial cleft, Abnormality of the adrena...	ORPHA:139466
Beemer Lethal Malformation Syndrome	Ambiguous genitalia	OMIM:209970
46,Xy Sex Reversal 6	Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys...	OMIM:613762
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Perineal hypospadias, Bifid s...	ORPHA:753
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno...	ORPHA:477781
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp...	ORPHA:752
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Scoliosis, Abnormal rib...	ORPHA:3268
46,Xx Sex Reversal 3	Sex reversal	OMIM:300833
46,Xy Sex Reversal 2	Sex reversal	OMIM:300018
46,Xy Sex Reversal 5	Elevated circulating follicle stimulating hormone level, Sex reversal	OMIM:613080
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, Sclerotic humera...	OMIM:609052
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
Maxillonasal Dysplasia, Binder Type	Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae	OMIM:155050
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Sex reversal	OMIM:613743
Wagr Syndrome	Ambiguous genitalia, Micrognathia, Everted lower lip vermilion, Scoliosis, Cryptorchidism, Obesit...	ORPHA:893
Ovarian Dysgenesis 2	Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon...	OMIM:300510
46,Xy Sex Reversal 4	High palate, Long philtrum, Sex reversal, Micrognathia, Hypoplastic labia majora, Agonadism, Anal...	OMIM:154230
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Acrodysplasia Scoliosis	Spina bifida occulta, Vertebral segmentation defect, Scoliosis	ORPHA:2956
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath...	OMIM:614669
Leydig Cell Hypoplasia	Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea...	ORPHA:755
Hemifacial Atrophy, Progressive	Dental malocclusion, Kyphosis, Delayed eruption of teeth, Tongue atrophy, Short mandibular rami	OMIM:141300
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Short mandibular condyles, Hypoplasia of the maxilla, Primary amenorrhea, Cl...	OMIM:264270
Meckel Syndrome	Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Aplasia/Hypoplasia of the tongue, Microg...	ORPHA:564
Thanatophoric Dysplasia, Type Ii	Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Short greater sciatic notch, Platyspondyl...	OMIM:187601
Gonadoblastoma	Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc...	ORPHA:206484
Spondylosis, Cervical	Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis	OMIM:184300
46,Xx Sex Reversal 4	Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ...	OMIM:617480
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal	ORPHA:85112
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost...	OMIM:614841
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Metatropic Dysplasia	Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Genu valgum, Metaphyseal irregulari...	OMIM:156530
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
Heart Defects-Limb Shortening Syndrome	Kyphosis, Death in infancy, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology...	ORPHA:1354
Premature Ovarian Failure 5	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Mandibular prognathia, Kyphosis, Scoliosis, Abnormality of the dentition	ORPHA:1858
49,Xxxyy Syndrome	Primary gonadal insufficiency, Ambiguous genitalia, Mandibular prognathia, Abnormality of the tes...	ORPHA:261534
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,...	ORPHA:174
Alpha-Mannosidosis	Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Type II...	ORPHA:61
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Potocki-Lupski Syndrome	Gastroesophageal reflux, Hypothyroidism, Dental malocclusion, High palate, Mandibular prognathia,...	OMIM:610883
Filippi Syndrome	Ambiguous genitalia, Decreased body weight, Microdontia, Abnormality of dental morphology, Hypodo...	OMIM:272440
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,...	ORPHA:168563
Ovarian Dysgenesis 10	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir...	OMIM:619834
Harrod Syndrome	Dental malocclusion, High palate, Kyphosis, Failure to thrive, Hypospadias, Narrow mouth, Scolios...	ORPHA:2115
Normosmic Congenital Hypogonadotropic Hypogonadism	Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Eunuchoid habitus, Delayed...	ORPHA:432
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Ambiguous genitalia, Microretrognathia, Hypospadias, Abnormality of ...	ORPHA:276422
Frasier Syndrome	Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad...	ORPHA:347
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Rubinstein-Taybi Syndrome 2	Retrognathia, Talon cusp, Dental malocclusion, High palate, Narrow palate, Micrognathia, Intestin...	OMIM:613684
Thoracolaryngopelvic Dysplasia	Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular vertebral endplates, Irreg...	OMIM:187760
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:289548
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng...	ORPHA:199306
Progeria-Short Stature-Pigmented Nevi Syndrome	Gastroesophageal reflux, Dental malocclusion, Decreased serum estradiol, Selective tooth agenesis...	ORPHA:2959
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis, Cleft lip, Cleft palate	OMIM:611812
Blepharophimosis-Impaired Intellectual Development Syndrome	Gastroesophageal reflux, Dental malocclusion, Enamel hypoplasia, Wide mouth, Widely spaced teeth,...	OMIM:619293
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus	ORPHA:231736
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
46,Xx Gonadal Dysgenesis	Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat...	ORPHA:243
Ovarian Dysgenesis 9	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Maternal Uniparental Disomy Of Chromosome X	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici...	ORPHA:261519
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary, Osteosclerosis of the base of the skull	OMIM:609993
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal...	ORPHA:2235
Schneckenbecken Dysplasia	Snail-like ilia, Metaphyseal irregularity, Dumbbell-shaped long bone, Anterior rib cupping, Thora...	OMIM:269250
Kyphomelic Dysplasia	Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Lateral clavicle hook, Na...	ORPHA:1801
Pseudovaginal Perineoscrotal Hypospadias	Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Abnormality of th...	OMIM:264600
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p...	OMIM:609813
Perrault Syndrome 4	Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:615300
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypothyroidism, Dental malocclusion, Wide mouth, Bifid scrotum, Thick lower lip vermilion, Microg...	ORPHA:85321
Fanconi Anemia, Complementation Group S	Thick upper lip vermilion, Dental malocclusion, Narrow palate, Failure to thrive, Ovarian carcino...	OMIM:617883
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le...	ORPHA:251510
Perrault Syndrome 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614129
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Short long bone, Camptodactyly, Scoliosis, Stillbirth, Death in adolescence,...	OMIM:619751
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, High palate, Deep philtrum, External genital hypoplasia, Micrognathia, Failu...	ORPHA:329178
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Prenatal death, Kyphosis, Camptodactyly, Short neck, Cryptorchidism, Neonatal d...	OMIM:618393
Beaulieu-Boycott-Innes Syndrome	Dental malocclusion, Premature ovarian insufficiency, Micrognathia, Velopharyngeal insufficiency,...	OMIM:613680
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula...	ORPHA:90797
Obesity Due To Congenital Leptin Deficiency	Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact...	ORPHA:66628
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ...	OMIM:616221
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-...	OMIM:101800
Smith-Mccort Dysplasia 1	Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit...	OMIM:607326
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Thin upper lip vermilion, Scoliosis, Widely-spaced maxi...	OMIM:619719
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri...	OMIM:202110
Perrault Syndrome 6	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:617565
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg...	OMIM:609616
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening, Sclerotic vertebral body, A...	ORPHA:2790
Metatropic Dysplasia	Camptodactyly of finger, Kyphosis, Narrow chest, Halberd-shaped pelvis, Clinodactyly of the 5th f...	ORPHA:2635
Premature Ovarian Failure 10	Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas...	OMIM:612885
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Long philtrum, W...	OMIM:616331
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co...	OMIM:250790
Premature Ovarian Failure 18	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab...	OMIM:194072
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Lumbar scoliosis, Secondary amenorrhea, Kyphoscoliosis, Platyspond...	OMIM:612847
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:179494
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Thick upper lip vermilion, Dental malocclusion, Retrognathia, Premature ovarian insufficiency, Ve...	ORPHA:363444
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Narrow mouth, ...	OMIM:602483
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Anterior hypopituitarism, Cleft palate, Ambiguous genitalia, Cleft upper lip	OMIM:601016
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypogonadism, Decreased testicular size, Hypoplasia of penis, Eunuchoid habitus, Short neck, Abno...	ORPHA:2234
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Mandibular prognathia, High palate	OMIM:618292
Currarino Syndrome	Bifid scrotum, Hypoplasia of penis, Abnormal intestine morphology, Hypospadias, Male pseudohermap...	ORPHA:1552
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Autosomal Dominant Omodysplasia	Ambiguous genitalia, Long philtrum, Bifid scrotum, Micrognathia, Hypoplasia of penis, Cryptorchid...	ORPHA:93328
Camptodactyly Syndrome, Guadalajara Type 1	Sacral dimple, Dental malocclusion, Mandibular prognathia, High palate, Abnormality of dental eru...	ORPHA:1327
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Premature Ovarian Failure 8	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ...	OMIM:607778
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Dental malocclusion, Mandibular prognathia, High palate, Dysphagia	OMIM:608931
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:612310
Zimmermann-Laband Syndrome	High palate, Wide mouth, Micrognathia, Hypodontia, Bifid uvula, Gingival fibromatosis, Macrogloss...	ORPHA:3473
Hypogonadotropic Hypogonadism 25 With Anosmia	Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici...	OMIM:618841
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Meckel Syndrome, Type 9	Ambiguous genitalia	OMIM:614209
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism...	ORPHA:754
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Micrognathia, Short philtrum, Downturned corners of mouth, Short neck, Platy...	ORPHA:93267
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Horizontal ribs, Short ribs, Death in infancy, Postaxial foot polydactyly, Postaxial hand polydac...	OMIM:617405
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A...	ORPHA:1797
Immunoneurologic Disorder, X-Linked	Small for gestational age, Neonatal death	OMIM:300076
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Kyphoscoliosis	OMIM:615541
German Syndrome	Ambiguous genitalia, High palate, Micrognathia, Everted lower lip vermilion, Short neck, Cryptorc...	ORPHA:2077
Campomelic Dysplasia	Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Hip dislocation, Metatarsus adductus...	OMIM:114290
Mccune-Albright Syndrome	Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Hepatocellular a...	ORPHA:562
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel...	OMIM:618386
Axial Spondylometaphyseal Dysplasia	Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ...	ORPHA:168549
Pycnodysostosis	Dental malocclusion, Obtuse angle of mandible, Enamel hypoplasia, High palate, Decreased response...	ORPHA:763
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, High, narrow palate	OMIM:619692
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic hypogonadism, Superior ri...	OMIM:307500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Dental malocclusion, Irregular vertebral endplates, High palate, Delayed eruption of teeth, Hypod...	OMIM:612350
Lissencephaly, X-Linked, 2	Ambiguous genitalia, High palate, Long philtrum, Decreased testicular size, Micrognathia, Thin up...	OMIM:300215
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Ambiguous genitalia, Sex reversal, Microphallus, Natal tooth, Microgna...	OMIM:612651
Cortisone Reductase Deficiency 1	Infertility, Precocious puberty, Obesity, Oligomenorrhea	OMIM:604931
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky...	OMIM:277300
Dyggve-Melchior-Clausen Disease	Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati...	OMIM:223800
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon...	OMIM:615724
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Thoracic hypoplasia, Hypoplastic pubic bone, Short long bone, Lumbar hyper...	OMIM:608728
X-Linked Lissencephaly With Abnormal Genitalia	Ambiguous genitalia, Malabsorption, Aganglionic megacolon, Micrognathia, Hypoplasia of penis, Cry...	ORPHA:452
Seckel Syndrome 1	Dental malocclusion, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Dent...	OMIM:210600
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ...	OMIM:264300
Cri-Du-Chat Syndrome	Gastroesophageal reflux, High palate, Small for gestational age, Thick lower lip vermilion, Bifid...	OMIM:123450
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Micrognathia, Diastema, Short neck, Malar flattening	ORPHA:436245
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, L...	ORPHA:2232
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Sclerotic vertebral body, Torus palatinus	OMIM:144750
Bardet-Biedl Syndrome	Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Short neck, Cryptorchidism, Obesity	ORPHA:110
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp...	OMIM:301200
Three M Syndrome 2	Dental malocclusion, Hyperlordosis, High palate, Long philtrum, Delayed eruption of teeth, Small ...	OMIM:612921
Thanatophoric Dysplasia, Type I	Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Severe platyspondyly, Short ribs...	OMIM:187600
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental malocclusion, Abnormality of upper lip vermillion, High palate, Pierre-Robin sequence, Lon...	ORPHA:251028
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae	OMIM:608681
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Pyloric stenosis, High palate, Cryptorchidism	OMIM:310400
Acrootoocular Syndrome	Dental malocclusion, Decreased response to growth hormone stimulation test, Delayed eruption of t...	ORPHA:2980
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Micrognathia, I...	ORPHA:1772
Fibrochondrogenesis 1	Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Short palm, Narrow gre...	OMIM:228520
Fetal Trimethadione Syndrome	Ambiguous genitalia, High palate, Micrognathia, Hypospadias, Scoliosis	ORPHA:1913
Intermediate Osteopetrosis	Dental malocclusion, Back pain, Abnormality of dental morphology, Osteosclerosis of the base of t...	ORPHA:210110
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Hypoplastic labia majora...	ORPHA:97360
Mulibrey Nanism	Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Absent frontal s...	OMIM:253250
Ovarian Dysgenesis 3	Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo...	OMIM:614324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Hypospadias, Abnormal clavic...	ORPHA:2522
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P...	ORPHA:90795
Satoyoshi Syndrome	Hyperlordosis, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Neph...	ORPHA:3130
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Gastroesophageal reflux, Ambiguous genitalia, Hypoplasia of penis, Cryptorchidism, Small scrotum	ORPHA:168593
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic...	OMIM:614524
Triploidy	Non-midline cleft lip, Ambiguous genitalia, Wide mouth, Micrognathia, Hypoplasia of penis, Macrog...	ORPHA:3376
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho...	ORPHA:93351
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, High palate, Micrognathia, Short philtrum, Maturity-onset diabetes of the you...	ORPHA:254531
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Metaphyseal irregularity, Genu valgum, Anterior rib cupping, Coxa vara, Hypoplasti...	OMIM:184250
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste...	OMIM:201810
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Severe platyspondyly,...	OMIM:608940
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Dental malocclusion, Bifid tongue, Long philtrum, Kyphosis, Micrognathia, Clitoral...	OMIM:616894
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ...	OMIM:615633
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o...	OMIM:601376
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, High palate, Small for gestational age, Micrognathia, Pyloric stenosis, Bifid...	ORPHA:96184
Isolated Klippel-Feil Syndrome	Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n...	ORPHA:2345
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Hajdu-Cheney Syndrome	Dental malocclusion, Biconcave vertebral bodies, High palate, Long philtrum, Micrognathia, Verteb...	OMIM:102500
Van Maldergem Syndrome 2	Irregular dentition, Dental malocclusion, Sacral dimple, High palate, Bifid scrotum, Micrognathia...	OMIM:615546
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral...	OMIM:151210
Noonan Syndrome 4	Dental malocclusion, Wide mouth, Large for gestational age, Short neck, Scoliosis, Cryptorchidism...	OMIM:610733
Autosomal Dominant Popliteal Pterygium Syndrome	Fibrous syngnathia, Non-midline cleft lip, Ambiguous genitalia, Lip pit, Bifid scrotum, Micrognat...	ORPHA:1300
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Vertebral segmen...	ORPHA:1836
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e...	OMIM:257850
Silver-Russell Syndrome 3	Retrognathia, Ambiguous genitalia, Decreased body weight, Small for gestational age, Unilateral c...	OMIM:616489
Mosaic Trisomy 14	Camptodactyly of finger, Narrow chest, Hypoplasia of penis, Failure to thrive, Hypospadias, Short...	ORPHA:1703
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Vertebral s...	ORPHA:1988
Momo Syndrome	Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi...	OMIM:157980
Elsahy-Waters Syndrome	Abnormality of the anus, Delayed eruption of teeth, Bifid uvula, Agenesis of incisor, Supernumera...	OMIM:211380
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl...	OMIM:122600
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Penile hypospadias, High palate, Bifid scrotum, Bilateral cryptorchidism, Ambiguous...	OMIM:300219
Van Maldergem Syndrome 1	Irregular dentition, Dental malocclusion, Sacral dimple, High palate, Micrognathia, Anal atresia,...	OMIM:601390
Sprengel Deformity	Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp...	OMIM:184400
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Temple Syndrome	Precocious puberty, High palate, Decreased testicular size, Small for gestational age, Micrognath...	OMIM:616222
Myopathy, Myofibrillar, 8	Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Scoliosis, Dysphagia	OMIM:617258
Diastrophic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Kyphosis, Hip dysplas...	ORPHA:628
Joubert Syndrome 15	Ambiguous genitalia, Micropenis	OMIM:614464
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Mandibular condyle hypoplasia, Ambiguous genitalia, female, Hypop...	ORPHA:2975
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Narr...	OMIM:618395
Martin-Probst Syndrome	Hypothyroidism, Dental malocclusion, Wide mouth, Bifid scrotum, Thick lower lip vermilion, Microg...	OMIM:300519
Distal Monosomy 13Q	Ambiguous genitalia, Anal atresia, Primary adrenal insufficiency, Abnormal form of the vertebral ...	ORPHA:1590
Dyggve-Melchior-Clausen Disease	Hypoplastic acetabulae, Short neck, Beaking of vertebral bodies, Genu valgum, Short thorax, Hypop...	ORPHA:239
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Narrow chest, Toe syndactyly, Abnormal pelvic girdle b...	ORPHA:474
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Bicornuate uterus, Vertebral segmentation defect, Azoospermia, Short neck, Abnormal rib morpholog...	ORPHA:2578
Momo Syndrome	Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delayed eruption of t...	ORPHA:2563
Meckel Syndrome, Type 8	Cleft palate, Ambiguous genitalia, Short neck, Cleft upper lip	OMIM:613885
Bosma Arhinia Microphthalmia Syndrome	Primary amenorrhea, Paranasal sinus hypoplasia, Dental malocclusion, High palate, Hypoplastic lab...	OMIM:603457
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Familial Male-Limited Precocious Puberty	Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility	ORPHA:3000
Short Syndrome	Dental malocclusion, Delayed eruption of teeth, Small for gestational age, Micrognathia, Hypodont...	OMIM:269880
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ...	ORPHA:254516
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Ambiguous genitalia, External genital hypoplasia, Decreased testicular size, Hypospadias, Ovotest...	OMIM:610644
Vacterl/Vater Association	Anorectal anomaly, Ambiguous genitalia, Non-midline cleft lip, Bifid scrotum, Vertebral segmentat...	ORPHA:887
Ichthyosis, Congenital, Autosomal Recessive 4B	Failure to thrive, Neonatal death, Death in infancy	OMIM:242500
46,Xx Sex Reversal 5	Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level	OMIM:618901
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border	OMIM:601957
Beemer-Ertbruggen Syndrome	Micrognathia, Ambiguous genitalia, Deep philtrum, Cryptorchidism	ORPHA:1237
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Hypoplasia of penis, Cryptorchidism	ORPHA:2772
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease...	ORPHA:90796
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, High palate, Mandibular prognathia, Diabetic ketoacidosis, ...	OMIM:262190
Androgen Insensitivity, Partial	Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro...	OMIM:312300
Achondrogenesis, Type Ia	Bell-shaped thorax, Hypoplastic sacrum, Short thorax, Short ribs, Broad clavicles, Narrow chest, ...	OMIM:200600
Auriculocondylar Syndrome	Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,...	ORPHA:137888
Caudal Regression Syndrome	Ambiguous genitalia, Maternal diabetes, Anal atresia, Hypoplastic vertebral bodies, Abnormal vert...	ORPHA:3027
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Hyperlordosis, Narrow palate, Long philtrum, Deep philtrum, Delayed eruption...	OMIM:190350
Becker Nevus Syndrome	Abnormality of the scrotum, Kyphosis, Supernumerary ribs, Hypoplastic labia minora, Pectus excava...	ORPHA:64755
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Dental malocclusion, High palate, Long philtrum, Kyphosis, Absence of la...	OMIM:265000
Poland Syndrome	Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a...	OMIM:173800
Septopreoptic Holoprosencephaly	Precocious puberty, Anterior hypopituitarism, Abnormal vertebral morphology, Central diabetes ins...	ORPHA:280195
Ulnar Hemimelia	Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones, Abnormal 3rd metac...	ORPHA:93320
Platyspondylic Dysplasia, Torrance Type	Genu varum, Short thorax, Metaphyseal cupping, Abnormal carpal morphology, Short foot, Hypoplasti...	ORPHA:85166
Holt-Oram Syndrome	Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor...	ORPHA:392
Cerebellofaciodental Syndrome	Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia, Short neck,...	OMIM:616202
Hallermann-Streiff Syndrome	Dental malocclusion, Hyperlordosis, High palate, Narrow palate, Natal tooth, Selective tooth agen...	OMIM:234100
Pseudoachondroplasia	Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Beaking of vertebral b...	OMIM:177170
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Mandibular prognathia, High palate, Abnormality of dental morphology, Open b...	ORPHA:3079
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmentation defect...	ORPHA:2311
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregularity, Shor...	OMIM:250420
Sirenomelia	Tracheoesophageal fistula, Ambiguous genitalia, Anal atresia, Absence of the sacrum	ORPHA:3169
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Metatarsus valgus, Kyphosis, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of...	ORPHA:3082
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Micrognat...	ORPHA:444072
Takenouchi-Kosaki Syndrome	Dental malocclusion, Long philtrum, Wide mouth, Widely spaced teeth, Short philtrum, Thin upper l...	OMIM:616737
Lessel-Kreienkamp Syndrome	Gastroesophageal reflux, Thin upper lip vermilion, Open mouth, Dental malocclusion	OMIM:619149
Juberg-Hayward Syndrome	Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, Abnormal metacarpal morphol...	ORPHA:2319
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Osteogenesis Imperfecta, Type Ix	Kyphosis, Short lower limbs, Pectus excavatum, Scoliosis, Platyspondyly, Pectus carinatum, Beaded...	OMIM:259440
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Metaphyseal cupping, Pear-...	OMIM:602111
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Ambiguous genitalia, High palate, Micrognathia, Micropenis	OMIM:618142
Acro-Renal-Mandibular Syndrome	Pectus carinatum, Finger syndactyly, Uterus didelphys, Bicornuate uterus, Hypoplasia of the radiu...	ORPHA:958
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	High palate, Pierre-Robin sequence, Long philtrum, Everted lower lip vermilion, Thin upper lip ve...	OMIM:617877
Persistent Müllerian Duct Syndrome	Male pseudohermaphroditism, Cryptorchidism	ORPHA:2856
Barber-Say Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Delayed eruption of teeth, W...	OMIM:209885
Muenke Syndrome	Malar flattening, Dental malocclusion, High palate	OMIM:602849
Hamamy Syndrome	Dental malocclusion, Enamel hypoplasia, High palate, Long philtrum, Wide mouth, Micrognathia, Hyp...	OMIM:611174
Au-Kline Syndrome	Retrognathia, Gastroesophageal reflux, Dental malocclusion, Sacral dimple, Bifid tongue, High pal...	OMIM:616580
Fraser Syndrome	Urethral atresia, Ambiguous genitalia, Dental malocclusion, Bifid tongue, High palate, Ectopic an...	ORPHA:2052
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,...	ORPHA:90791
Microform Holoprosencephaly	Hypothyroidism, Ambiguous genitalia, Maternal diabetes, Hypoplasia of penis, Panhypopituitarism, ...	ORPHA:280200
Larsen-Like Syndrome	Cleft palate, Kyphoscoliosis, Malar flattening, Dental malocclusion	OMIM:608545
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sprengel anomaly, Sandal gap, Scoliosis, Brachydactyly, Abnormal rib morphology, Hemivertebrae, O...	ORPHA:2180
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A...	ORPHA:2198
Genitopalatocardiac Syndrome	Non-midline cleft lip, Gonadal dysgenesis, male, Kyphosis, Micrognathia, Hypospadias, Male pseudo...	ORPHA:2075
Frasier Syndrome	Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea	OMIM:136680
Fibrochondrogenesis	Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Short ribs, Narr...	ORPHA:2021
Schwartz-Jampel Syndrome	Decreased body weight, Micrognathia, Cachexia, Everted lower lip vermilion, Short neck, Odontogen...	ORPHA:800
7Q11.23 Microduplication Syndrome	Retrognathia, Dental malocclusion, Sacral dimple, High palate, Short lingual frenulum, Micrognath...	ORPHA:96121
3M Syndrome	Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Hypoplastic pubic bone, Increased ...	ORPHA:2616
Bartsocas-Papas Syndrome	Ambiguous genitalia, Micrognathia, Median cleft lip, Narrow mouth, Hypoplastic male external geni...	ORPHA:1234
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Gastroesophageal reflux, Dental malocclusion, Cleft upper lip, High p...	OMIM:300373
Pelvis-Shoulder Dysplasia	Back pain, Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida...	OMIM:169550
Adrenal Hypoplasia, Congenital	Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir...	OMIM:300200
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Vertebral fusion, High palate, Narrow palate, Wide mouth, Shawl scrotum, Dee...	OMIM:227330
Apert Syndrome	Dental malocclusion, Mandibular prognathia, Narrow palate, Ectopic anus, Esophageal atresia, Dela...	OMIM:101200
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Micrognathia, Anal atresia, Supernumerary nipple, Thin upper lip vermilion, C...	OMIM:619243
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morph...	ORPHA:2643
Lymphangiectasia, Intestinal	Prominent floating ribs, Stillbirth, Lymphopenia, Decreased circulating IgG level	OMIM:152800
Sifrim-Hitz-Weiss Syndrome	Ambiguous genitalia, Fused cervical vertebrae, Bifid uvula, Anteriorly placed anus, Cryptorchidis...	OMIM:617159
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia	OMIM:165550
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Anterior pituitary hypoplasia, Decreased response to gr...	OMIM:610829
Denys-Drash Syndrome	Male pseudohermaphroditism, Gonadal dysgenesis	ORPHA:220
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Small for gestational age, Tibial b...	OMIM:166210
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Ambiguous genitalia, Abnormality of the male genitalia, Aganglionic mega...	ORPHA:847
Frontometaphyseal Dysplasia 1	Dental malocclusion, High palate, Selective tooth agenesis, Delayed eruption of teeth, Fused cerv...	OMIM:305620
Lumbar Syndrome	Ambiguous genitalia, Ectopic anus, Bifid scrotum, Hypoplastic labia majora, Anal atresia, Bifid u...	ORPHA:83628
Sim1-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ...	ORPHA:398079
Achondrogenesis, Type Ii	Horizontal ribs, Hypoplastic iliac wing, Short tubular bones of the hand, Short ribs, Short long ...	OMIM:200610
Shprintzen-Goldberg Craniosynostosis Syndrome	Gastroesophageal reflux, Dental malocclusion, High palate, Narrow palate, Micrognathia, C1-C2 ver...	OMIM:182212
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Gastroesophageal reflux, Dysplastic testes, Ambiguous genitalia, male, Tongue fasciculations, Cry...	OMIM:608800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypothyroidism, Dental malocclusion, Bifid tongue, Exaggerated median tongue furrow, Vertebral se...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypothyroidism, Dental malocclusion, Bifid tongue, Exaggerated median tongue furrow, Vertebral se...	ORPHA:352665
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Atelosteogenesis, Type I	Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Short femur, Short neck, Thorac...	OMIM:108720
Campomelic Dysplasia	Ambiguous genitalia, Kyphosis, Micrognathia, Poorly ossified cervical vertebrae, Male pseudoherma...	ORPHA:140
Prune Belly Syndrome	Urogenital sinus anomaly, Congenital posterior urethral valve, Decreased testicular size, Vertebr...	ORPHA:2970
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Anterior rib cupping...	OMIM:260400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Narrow pelvis bone, Truncal obesity, Pseudoepiphyses of the metacarpals, Hypo...	OMIM:210720
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Peg-like central prominence of distal tibial metaphyses, Anterior rib cupping, Coxa vara, Promine...	OMIM:300232
Mucopolysaccharidosis, Type Iva	Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebrae, Genu val...	OMIM:253000
Cockayne Syndrome A	Irregular menstruation, Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Delayed er...	OMIM:216400
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Short neck, Abnormal rib morphology, Abnormal hip bone morphology, Abnormal fo...	ORPHA:1486
Spondylometaphyseal Dysplasia, Algerian Type	Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S...	OMIM:184253
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Short thorax, Coxa valga, Narrow chest, Hip disl...	ORPHA:2484
Greenberg Dysplasia	Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr...	OMIM:215140
Mucopolysaccharidosis Type 4	Hyperlordosis, Genu valgum, Short thorax, Coxa valga, Kyphosis, Spinal canal stenosis, Short neck...	ORPHA:582
Woolly Hair Nevus	Widely-spaced incisors, Precocious puberty	ORPHA:79414
Coffin-Lowry Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Narrow palate, Decreased body weight, Wi...	OMIM:303600
Sclerosteosis 1	Irregular menstruation, Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cra...	OMIM:269500
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib...	OMIM:118100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea...	ORPHA:90794
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Micrognathia, Microglossia, Thick anterior alveolar ridges, Prominent protru...	ORPHA:2839
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, Dental malocclusion, High palate, Deep philtrum, Micrognathia, Submucous...	OMIM:115150
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Platyspondyly, Metaphyseal cupping...	OMIM:300863
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormality of the spleen, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Femoral retroversion, Death in early adulthood, Scoliosis, Hypoplastic scapulae	ORPHA:79107
Leopard Syndrome 1	Mandibular prognathia, Aplasia of the ovary, Spina bifida occulta, Hypoplasia of the ovary, Hypos...	OMIM:151100
Mccune-Albright Syndrome	Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir...	OMIM:174800
Mosaic Variegated Aneuploidy Syndrome 1	Ambiguous genitalia, Long philtrum, Bifid scrotum, Small for gestational age, Micrognathia, Hypos...	OMIM:257300
Trisomy 1Q	Ambiguous genitalia, Anal atresia, Microretrognathia, Narrow mouth, Cryptorchidism, Cleft palate,...	ORPHA:261344
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Persistence of p...	OMIM:618727
Kabuki Syndrome 2	Dental malocclusion, High palate, Lower lip pit, Decreased body weight, Natal tooth, Micrognathia...	OMIM:300867
Schneckenbecken Dysplasia	Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Hypoplastic verte...	ORPHA:3144
Holoprosencephaly-Postaxial Polydactyly Syndrome	Ambiguous genitalia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of penis, Thyroid hyp...	ORPHA:2166
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor...	OMIM:614736
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Dentinogenesis imperfecta, Precocious puberty, Periodontitis, Type I diabetes melli...	OMIM:619269
Rubinstein-Taybi Syndrome 1	Premature thelarche, Micrognathia, Spina bifida occulta, Smooth philtrum, Cleft palate, Talon cus...	OMIM:180849
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Missing ribs, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Hemiverteb...	ORPHA:2759
Seckel Syndrome 9	Ambiguous genitalia, Small for gestational age, Micrognathia, Agonadism, Clitoral hypertrophy	OMIM:616777
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Platyspondyly...	ORPHA:163966
Oliver Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Short philtrum, Supernumerary nipple, Sc...	ORPHA:2920
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ...	ORPHA:3464
Phelan-Mcdermid Syndrome	Sacral dimple, Gastroesophageal reflux, Dental malocclusion, High palate, Long philtrum, Widely s...	OMIM:606232
Mucopolysaccharidosis, Type X	Hyperlordosis, Genu valgum, Broad clavicles, Hip dysplasia, Platyspondyly, Scoliosis, Irregular a...	OMIM:619698
Linear Skin Defects With Multiple Congenital Anomalies 1	Anal atresia, Anteriorly placed anus, Hypospadias, Hypoplasia of the uterus, Colonic atresia, Ovo...	OMIM:309801
Achondrogenesis Type 1B	Short thorax, Narrow chest, Short neck, Abnormal rib morphology, Short foot	ORPHA:93298
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec...	OMIM:613686
Pontocerebellar Hypoplasia, Type 7	Thick upper lip vermilion, Ambiguous genitalia, High palate, Deep philtrum, Micrognathia, Cryptor...	OMIM:614969
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Azoospermia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal r...	OMIM:601076
Congenital Myopathy 17	Dental malocclusion, Mandibular prognathia, High palate, Long philtrum, Tented upper lip vermilio...	OMIM:618975
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Horizontal ribs, Thoracic hypoplasia, Short 4th metacarpal, Camptodactyly, Broad hallux, Ovoid ve...	OMIM:618019
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Lobulated tongue, Ambiguous genitalia, Bifid tongue, Natal tooth, Hypoplastic facial bones, Anal ...	OMIM:616300
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Abnorm...	ORPHA:2475
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu...	ORPHA:786
Cartilage-Hair Hypoplasia	Abnormal distal phalanx morphology of finger, Short neck, Metaphyseal chondrodysplasia, Abnormal ...	ORPHA:175
Dystonia, Juvenile-Onset	Small for gestational age, Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Poland Syndrome	Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Short ribs, Abnormality o...	ORPHA:2911
Cherubism	Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Alveolar ridge overgrowth, Multipl...	OMIM:118400
Oeis Complex	Duplicated colon, Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Absence of ...	OMIM:258040
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease...	ORPHA:95699
Neu-Laxova Syndrome	Retrognathia, Abnormality of the philtrum, Ambiguous genitalia, Hypogonadism, External genital hy...	ORPHA:2671
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Lumbar hyperlordosis, Hip dislocation, Short humerus, Hypoplasia of the ulna, Dislocated radial h...	OMIM:602471
Williams Syndrome	Peptic ulcer, Hypothyroidism, Precocious puberty, Colonic diverticula, Functional abnormality of ...	ORPHA:904
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Lower limb undergrowth, Abnormal rib morphology, Ab...	ORPHA:3035
Limb-Mammary Syndrome	Aplasia of the ovary, Hypodontia, Absent nipple, Bifid uvula, Breast aplasia, Submucous cleft sof...	ORPHA:69085
Hypophosphatasia	Failure to thrive in infancy, Anemia, Narrow chest, Abnormal metaphysis morphology, Bowing of the...	ORPHA:436
Cockayne Syndrome B	Dental malocclusion, Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Small fo...	OMIM:133540
Microphthalmia, Syndromic 2	Hypothyroidism, Dental malocclusion, Decreased body weight, Long philtrum, Delayed eruption of te...	OMIM:300166
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Ambiguous genitalia, Cleft upper lip, Bifid tongue, Anal atresia, Intestinal malrotation, Scolios...	OMIM:613091
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal...	ORPHA:457059
Genitourinary And/Or Brain Malformation Syndrome	Urogenital sinus anomaly, Jejunal atresia, Long philtrum, Micrognathia, Hypospadias, Kyphoscolios...	OMIM:618820
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Triphalangeal thumb, Preaxial hand polydactyly, Death in infancy, Vertebral segmentation defect, ...	ORPHA:1120
Spondyloenchondrodysplasia	Hypothyroidism, Dental malocclusion, Decreased response to growth hormone stimulation test, Kypho...	ORPHA:1855
Cousin Syndrome	Hypoplastic iliac wing, Bell-shaped thorax, 2-3 toe syndactyly, Anterior rounding of vertebral bo...	OMIM:260660
Localized Scleroderma	Gastroesophageal reflux, Dental malocclusion, Abnormal upper lip morphology, Hashimoto thyroiditi...	ORPHA:90289
Short Rib-Polydactyly Syndrome	Horizontal ribs, Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Thoraci...	ORPHA:1505
Osteogenesis Imperfecta, Type Xvi	Short long bone, Small for gestational age, Multiple rib fractures, Platyspondyly, Angulated hume...	OMIM:616229
Bent Bone Dysplasia Syndrome 2	Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,...	OMIM:620076
Noonan Syndrome 1	Failure to thrive in infancy, Dental malocclusion, High palate, Hypogonadism, Micrognathia, Hypos...	OMIM:163950
Nestor-Guillermo Progeria Syndrome	Dental malocclusion, Micrognathia, Microretrognathia, Decreased serum leptin, Failure to thrive, ...	OMIM:614008
Grant Syndrome	Narrow chest, Abnormal pelvic girdle bone morphology, Abnormality of the glenoid fossa, Sprengel ...	ORPHA:2097
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hyperlordosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Hypogonadotropic hypogonadism...	ORPHA:3068
Aromatase Deficiency	Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me...	ORPHA:91
Phaver Syndrome	Camptodactyly of finger, Triphalangeal thumb, Radioulnar synostosis, Ulnar deviation of finger, B...	ORPHA:2876
Mucopolysaccharidosis Type 6	Genu valgum, Kyphosis, Epiphyseal dysplasia, Failure to thrive, Short neck, Ovoid vertebral bodie...	ORPHA:583
Dysosteosclerosis	Short sternum, Short diaphyses, Broad femoral neck, Irregular vertebral endplates, Increased inte...	OMIM:224300
Cleidocranial Dysplasia	Genu valgum, Tapered finger, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Abnormal metacar...	ORPHA:1452
Acrorenal-Mandibular Syndrome	Abnormal sacral segmentation, Toe syndactyly, Hip dislocation, Butterfly vertebrae, Uterus didelp...	OMIM:200980
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Dental malocclusion, Long philtrum, Wide mouth, Widely spaced teeth, Short philtrum, Thin upper l...	ORPHA:487796
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Gastroesophageal reflux, Dental malocclusion, Talon cusp, Narrow palate, Abnormality of the cervi...	ORPHA:353281
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum	OMIM:602196
Desmosterolosis	Retrognathia, Ambiguous genitalia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Intest...	ORPHA:35107
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,...	ORPHA:85167
Fg Syndrome Type 1	Sacral dimple, Gastroesophageal reflux, High palate, Long philtrum, Wide mouth, Abnormal large in...	ORPHA:93932
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Horizontal inferior border of scapula, Anterior rib cupping, Decreased circulating total IgM, B l...	OMIM:102700
Axial Mesodermal Dysplasia Spectrum	Vertebral segmentation defect, Missing ribs, Abnormal pelvic girdle bone morphology, Short neck, ...	ORPHA:1834
Turnpenny-Fry Syndrome	Gastroesophageal reflux, Dental malocclusion, Mandibular prognathia, High palate, Decreased body ...	OMIM:618371
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology	ORPHA:1506
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Female pseudohermaphroditism, Tra...	ORPHA:2973
Pelviscapular Dysplasia	Hypoplastic ilia, Humeroradial synostosis, Short femur, Congenital hip dislocation, Short neck, B...	ORPHA:93333
Myhre Syndrome	Precocious puberty, Mandibular prognathia, Hypogonadism, External genital hypoplasia, Gingival cl...	ORPHA:2588
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ambiguous genitalia, Long philtrum	OMIM:617895
Brachytelephalangic Chondrodysplasia Punctata	Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ...	ORPHA:79345
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Supernumerary vertebrae, Vertebral fusion, Short ribs, Block vertebrae, Missing...	OMIM:271520
Coloboma, Ocular, Autosomal Dominant	Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ...	OMIM:120200
Spondyloepimetaphyseal Dysplasia, X-Linked	Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent...	OMIM:300106
Mucopolysaccharidosis, Type Ivb	Pointed proximal second through fifth metacarpals, Hyperlordosis, Genu valgum, Coxa valga, Promin...	OMIM:253010
Crane-Heise Syndrome	Aplastic clavicle, Finger syndactyly, Toe syndactyly, Hypoplasia of penis, Cryptorchidism, Short ...	ORPHA:1512
Renpenning Syndrome	Decreased testicular size, Cachexia, Clinodactyly of the 5th finger, Abnormal thumb morphology, P...	ORPHA:3242
Meier-Gorlin Syndrome 1	Coxa valga, Camptodactyly, Hypoplastic labia majora, Absent sternal ossification, Lateral clavicl...	OMIM:224690
Frank-Ter Haar Syndrome	Dental malocclusion, High palate, Wide mouth, Kyphosis, Micrognathia, Broad alveolar ridges, Ante...	OMIM:249420
Cenani-Lenz Syndrome	Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car...	ORPHA:3258
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc...	OMIM:250220
Cooper-Jabs Syndrome	Camptodactyly of finger, Missing ribs, Proximal placement of thumb, Scoliosis, Abnormal rib morph...	ORPHA:1488
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Biconcave vertebral bodies, Wide anterior fontanel, Kyphosis, Slender long b...	OMIM:259420
Faciocardiomelic Syndrome	Dental malocclusion, Long philtrum, Wide mouth, Micrognathia, Cuboid-shaped vertebral bodies, Hyp...	OMIM:612731
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr...	OMIM:202010
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Dental malocclusion, Biconcave vertebral bodies, Kyphosis, Delayed eru...	ORPHA:666
Carpenter Syndrome 2	Retrognathia, Dental malocclusion, Narrow palate, High palate, Long philtrum, Shawl scrotum, Bila...	OMIM:614976
Cole-Carpenter Syndrome	Crumpled long bones, Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal metaphysis morphology...	ORPHA:2050
Fraser Syndrome 1	Difficulty in tongue movements, Cleft upper lip, Abnormal small intestine morphology, Dental malo...	OMIM:219000
Short-Rib Thoracic Dysplasia 12	Horizontal ribs, Short toe, Ambiguous genitalia, Short thorax, Neonatal death, Short foot, Short ...	OMIM:269860
Meckel Syndrome 14	Retrognathia, Ambiguous genitalia, Micrognathia, Microretrognathia, Aplasia of the uterus, Short ...	OMIM:619879
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Genu valgum, Thoracic hypoplasia, Multiple rib fractures, Tibial bowing...	OMIM:613848
Cockayne Syndrome	Gastroesophageal reflux, Enamel hypoplasia, Dental malocclusion, Abnormal number of teeth, Delaye...	ORPHA:191
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Decreased testicular size, Intestinal malrotation, Hypoplasia of the ovary, Do...	OMIM:619321
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Short lingual frenulum, Short philtrum, Anteriorly placed anus, Widely-spaced...	OMIM:608980
Fraser Syndrome 2	Ambiguous genitalia, Narrow mouth	OMIM:617666
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Abnormal fallopian tube morphology, Ambiguous genitalia, Mandibular aplasia, Sacral...	ORPHA:2556
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Genu valgum, Coxa valga, Narrow chest, Anterior ...	OMIM:309350
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Penile hypospadias, Short 5th finger, Triangular shaped distal phalanges of the hand, Abnormal th...	ORPHA:73230
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Finger syndactyly, Short ribs, Vertebral hypoplasia, Aplasia of the distal phalanx of...	OMIM:308050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Coxa valga, Hallux valgus, Advanced ossification of carpal bones, Large iliac wi...	OMIM:271640
Trisomy 13	Kyphosis, Narrow chest, Abnormal pelvic girdle bone morphology, Postaxial hand polydactyly, Scoli...	ORPHA:3378
Smith-Lemli-Opitz Syndrome	Ambiguous genitalia, Bifid tongue, Micrognathia, Short neck, Tooth agenesis, Cleft palate, Gingiv...	ORPHA:818
Schinzel-Giedion Syndrome	Central hypothyroidism, Delayed eruption of teeth, Micrognathia, Hepatoblastoma, Short neck, Dysp...	ORPHA:798
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Micrognathia, Malar flattening	OMIM:608257
Ring Chromosome 13 Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Hypoplasia of the gallbladder, High palate, Abnorm...	ORPHA:96176
Campomelia, Cumming Type	Death in infancy, Abnormal thorax morphology, Clubbing of toes, Brachydactyly, Abnormal rib morph...	ORPHA:1318
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short ribs, Short long bone, Thoracic dysplasia, Flat acetabular roof, Syndactyly, H...	OMIM:614091
Focal Dermal Hypoplasia	Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Delayed eruption of teeth, Hypodontia, O...	OMIM:305600
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Coxa valga, Flared iliac wing, Atlantoaxial dislocation, Camptodactyly, Hip disl...	OMIM:252500
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Vertebral arch anomaly, Coxa valga, Short tubular bones of the hand, Wide ant...	ORPHA:85184
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Microretrognathia	OMIM:615560
Alg9-Cdg	Gastroesophageal reflux, Long philtrum, Villous atrophy, Bicornuate uterus, Wide mouth, Micrognat...	ORPHA:79328
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia	ORPHA:195
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,...	ORPHA:572333
Monosomy 9P	Ambiguous genitalia, High palate, Long philtrum, Micrognathia, Hypospadias, Narrow mouth, Short n...	ORPHA:261112
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre...	ORPHA:90790
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Median cleft lip, Intestinal malrotation, Microglossia, Pancreatic fibrosis,...	OMIM:263520
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, Hip dislocation, Cervical ribs, Hypoplastic iliac wing, S...	OMIM:119600
Osteoglophonic Dysplasia	Short phalanx of finger, Pseudoarthrosis, Short foot, Short metacarpal, Broad phalanx, Broad meta...	OMIM:166250
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Brachydactyly, Abnormal rib morphology, Abnormality of the urethra	ORPHA:2145
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Gastroesophageal reflux, Dental malocclusion, Talon cusp, High palate, Narrow palate, Natal tooth...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Gastroesophageal reflux, Dental malocclusion, Talon cusp, High palate, Narrow palate, Natal tooth...	ORPHA:353277
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hypoperistalsis, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation, C...	ORPHA:2241
Alagille Syndrome	Butterfly vertebral arch, Vertebral segmentation defect, Clinodactyly of the 5th finger, Hypoplas...	ORPHA:52
Mucolipidosis Iii Alpha/Beta	Short ribs, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling...	OMIM:252600
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Horizontal ribs, Short tibia, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Sho...	OMIM:617925
Gracile Bone Dysplasia	Asplenia, Death in infancy, Slender long bone, Failure to thrive, Flared metaphysis, Brachydactyl...	OMIM:602361
Van Den Ende-Gupta Syndrome	Tapered finger, Hallux valgus, Slender metacarpals, Pectus excavatum, Dislocated radial head, 2-3...	OMIM:600920
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Dumbbell-shaped long bone, Short femur, Femoral bowing, Brachydactyly, Narrow chest, Hypoplastic ...	ORPHA:440354
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Thoracic hypoplasia, Coxa valga, Epiphyseal stippling, Camptodactyly, Pectus excavat...	ORPHA:96334
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypoplastic sweat glands, Dental malocclusion, Hyperlordosis, Long philtrum, Micrognathia, Maxill...	ORPHA:73223
Kyphomelic Dysplasia	Anterior rib cupping, Thoracic hypoplasia, Short metacarpal, Radial bowing, Flat acetabular roof,...	OMIM:211350
Osteogenesis Imperfecta, Type Viii	Wide anterior fontanel, Short metacarpal, Femoral retroversion, Kyphosis, Radial bowing, Tibial b...	OMIM:610915
Bartsocas-Papas Syndrome 1	Ambiguous genitalia, Cleft upper lip, Bicornuate uterus, Micrognathia, Bilateral cryptorchidism, ...	OMIM:263650
Smith-Lemli-Opitz Syndrome	Ambiguous genitalia, Precocious puberty, Micrognathia, Bifid uvula, Septate vagina, Cleft palate,...	OMIM:270400
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Cleft soft palate, Shawl scrotum, Micrognathia, Submucous cleft soft palate, Hypospadias, Male ps...	ORPHA:2282
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Failure to thrive, Ambiguous genitalia, Clitoral hypertrophy	ORPHA:543470
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Dental malocclusion, High palate, Bifid uvula, Spondylolisthesis, Scoliosis, Uterin...	ORPHA:284984
Mosaic Trisomy 8	Camptodactyly of finger, Patellar aplasia, Narrow chest, Decreased testicular size, Vertebral seg...	ORPHA:96061
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le...	OMIM:201750
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Ambiguous genitalia, Pancreatic fibrosis	OMIM:615503
Pontocerebellar Hypoplasia Type 7	Thick upper lip vermilion, Ambiguous genitalia, High palate, Absent penis, Microphallus, Microgna...	ORPHA:284339
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Hepatoblastoma, Six lumbar vertebrae, Cle...	OMIM:312870
Spondylometaphyseal Dysplasia, Sedaghatian Type	Iliac crest serration, Cone-shaped epiphysis, Short metacarpal, Narrow chest, Long fibula, Metaph...	ORPHA:93317
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Failure to thrive in infancy, Fused cervical vertebrae, Neutrophilia, Flaring of rib cage, Broad ...	OMIM:612852
Meacham Syndrome	Abnormal fallopian tube morphology, Ambiguous genitalia, Hydrometrocolpos, Hypoplasia of penis, V...	ORPHA:3097
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Nivelon-Nivelon-Mabille Syndrome	Trapezoidal vertebral body, Male pseudohermaphroditism	OMIM:600092
Holzgreve Syndrome	Abnormal metacarpal morphology, Hand polydactyly, Abnormal morphology of ulna, Abnormal rib morph...	ORPHA:2167
Basal Cell Nevus Syndrome 1	Bifid ribs, Polydactyly, Abnormal sternum morphology, Vertebral fusion, Short 4th metacarpal, Sho...	OMIM:109400
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Narrow chest, Flared iliac wing, Synostosis of carpal bones, Abnormal me...	ORPHA:90652
Williams-Beuren Syndrome	Failure to thrive in infancy, Gastroesophageal reflux, Hypothyroidism, Dental malocclusion, Colon...	OMIM:194050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Hip ...	OMIM:609945
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Short neck...	OMIM:276820
Aspergillosis	Abnormal long bone morphology, Eosinophilia, Abnormal rib morphology, Abnormality of the vertebra...	ORPHA:1163
Hurler Syndrome	Camptodactyly of finger, Death in infancy, Narrow pelvis bone, Spinal canal stenosis, Abnormal ve...	ORPHA:93473
Ellis-Van Creveld Syndrome	Horizontal ribs, Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short ribs, Short l...	OMIM:225500
Mosaic Variegated Aneuploidy Syndrome	Stomach cancer, Ambiguous genitalia, Hypothyroidism, Micrognathia, Vaginal neoplasm, Intestinal p...	ORPHA:1052
Pagod Syndrome	Ambiguous genitalia, Abnormal testis morphology, Agonadism, Abnormality of the uterus, Female pse...	ORPHA:991
X-Linked Hypophosphatemia	Shortening of the talar neck, Abnormal lower-limb metaphysis morphology, Genu valgum, Enlargement...	ORPHA:89936
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Aganglionic megacolon, Hypogonadism, Ileus	ORPHA:163746
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Kyphosis, Aplasia/hypoplasia of the femur, Missing ribs, Clinodactyly of the 5...	ORPHA:2769
Desmosterolosis	Ambiguous genitalia, female, Micrognathia, Ambiguous genitalia, male, Gingival fibromatosis, Fail...	OMIM:602398
Tetraamelia-Multiple Malformations Syndrome	Missing ribs, Aplasia/Hypoplasia involving the pelvis, Vaginal atresia, Cryptorchidism, Abnormal ...	ORPHA:3301
Pallister-Hall Syndrome	Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Bifid uvula, ...	ORPHA:672
Fibrous Dysplasia Of Bone	Precocious puberty in females, Abnormality of the cervical spine, Coxa vara, Abnormality of femur...	ORPHA:249
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Tapered finger, Finger syndactyly, Kyphosis, Ulnar deviation of finger, ...	ORPHA:2215
Ehlers-Danlos Syndrome, Classic-Like	Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Pyknoachondrogenesis	Horizontal ribs, Enlarged thorax, Short thorax, Unossified sacrum, Short ribs, Short long bone, P...	ORPHA:3003
Doors Syndrome	Ambiguous genitalia, Short lingual frenulum, Adrenal hyperplasia, Spina bifida occulta, Cleft pal...	ORPHA:79500
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Neoplasm of the adrenal cortex, Thyroid carcinoma, Abnormal large intestine morpho...	ORPHA:109
Penile Agenesis	Anorectal anomaly, Ambiguous genitalia, Absent penis, Urethral fistula, Maternal diabetes, Anal a...	ORPHA:49
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Cryptorchidism, Abnormal rib...	ORPHA:2519
Carney Complex	Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Hepatocellular carcinoma, Olig...	ORPHA:1359
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Horizontal ribs, Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short...	OMIM:208500
Ablepharon Macrostomia Syndrome	Ambiguous genitalia, Abnormality of female external genitalia, Wide mouth, Microdontia, Hypoplasi...	ORPHA:920
Loeys-Dietz Syndrome 3	Retrognathia, Dental malocclusion, High palate, Eosinophilic infiltration of the esophagus, Bifid...	OMIM:613795
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ambiguous genitalia, Cleft upper lip, Bifid tongue, Long philtrum, Ectopic anus, Esophageal atres...	ORPHA:93271
Oculocerebrocutaneous Syndrome	Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, Cryptorchidism, Ap...	ORPHA:1647
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Protrusio acetabuli, Coxa vara, Wide anterior fontanel, Femoral retroversion...	OMIM:610682
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Retrognathia, Dental malocclusion, High palate, Bifid uvula, Malar flattening	OMIM:601552
Monosomy 22Q13.3	Sacral dimple, Gastroesophageal reflux, Dental malocclusion, Dental crowding, Malar flattening, O...	ORPHA:48652
Degcags Syndrome	Ambiguous genitalia, Micrognathia, Smooth philtrum, Intestinal atresia, Sacral dimple, Jejunal at...	OMIM:619488
Radio-Renal Syndrome	Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal rib morphology, Short palm, Abnorma...	ORPHA:3015
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Short neck, Postaxial hand polydactyly...	ORPHA:373
Ablepharon-Macrostomia Syndrome	Short upper lip, Ambiguous genitalia, Wide mouth, Hypoplastic labia majora, Anteriorly placed anu...	OMIM:200110
Femoral-Facial Syndrome	Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,...	OMIM:134780
Lathosterolosis	Thick upper lip vermilion, High palate, Bilobate gallbladder, Long philtrum, Micrognathia, Ambigu...	OMIM:607330
Ulbright-Hodes Syndrome	Short sternum, Ovoid thoracolumbar vertebrae, Humeroradial synostosis, Short ribs, Short metacarp...	ORPHA:3404
Meckel Syndrome, Type 1	Lobulated tongue, Cleft upper lip, Ambiguous genitalia, female, Wide mouth, External genital hypo...	OMIM:249000
Chondrodysplasia-Disorder Of Sex Development Syndrome	Male pseudohermaphroditism	ORPHA:1422
Cog1-Cdg	Coxa valga, Short long bone, Vertebral segmentation defect, Flat acetabular roof, Butterfly verte...	ORPHA:263508
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Absent thumb, Hypoplastic pelvis, Short clavicles, Bowed humerus, Hypoplastic scapulae	OMIM:618022
Craniosynostosis And Dental Anomalies	Dental malocclusion, Mandibular prognathia, High palate, Narrow palate, Delayed eruption of teeth...	OMIM:614188
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Camptodactyly Syndrome, Guadalajara Type 3	Broad femoral neck, Small hand, Thickened cortex of long bones, Spina bifida occulta, Short neck,...	ORPHA:488434
Monosomy 9Q22.3	Polydactyly, Kyphosis, Large for gestational age, Pectus excavatum, Short neck, Abnormal rib morp...	ORPHA:77301
Persistent Hyperplastic Primary Vitreous	Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ...	ORPHA:91495
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion	OMIM:259730
Antley-Bixler Syndrome	Camptodactyly of finger, Narrow chest, Narrow pelvis bone, Femoral bowing, Arachnodactyly, Abnorm...	ORPHA:83
Mednik Syndrome	Volvulus, Microcolon, Neonatal death, Jejunal atresia	OMIM:609313
Ulnar-Mammary Syndrome	Short 5th finger, Postaxial hand polydactyly, Imperforate hymen, Shawl scrotum, Short 4th toe, Bi...	OMIM:181450
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ambiguous genitalia, Deep philtrum, Thin upper lip vermilion, Cryptorchidism, Micropenis	OMIM:617641
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Slender long bone, Hypoplastic labi...	ORPHA:2554
Meacham Syndrome	Bicornuate uterus, Male pseudohermaphroditism, Blind vagina, Stillbirth, Septate vagina, Neonatal...	OMIM:608978
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horizontal ribs, Splenomegaly, Postaxial polydactyly, Short ribs, Short long bone, Hydrometrocolp...	OMIM:617088
Tibial Hemimelia	Ambiguous genitalia, Hypospadias, Cryptorchidism, Cleft palate, Hemivertebrae	ORPHA:93322
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cardiac-Urogenital Syndrome	Ambiguous genitalia, Bifid scrotum, Intestinal malrotation, Unilateral cryptorchidism, Aplasia of...	OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Retinal dysplasia, Remnants of the hyaloid vascular system, Optic nerve hypop...	OMIM:614643
Pmm2-Cdg	Retrognathia, Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulati...	ORPHA:79318
Restrictive Dermopathy	Natal tooth, Temporomandibular joint ankylosis, Microcolon, Micrognathia, Congenital adrenal hypo...	ORPHA:1662
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:221900
Townes-Brocks Syndrome	Toe syndactyly, Absent toe, Abnormal rib morphology, Abnormal vagina morphology, Hypoplasia of pe...	ORPHA:857
Visceral Myopathy 1	Megaduodenum, Aganglionic megacolon, Microcolon, Dysphagia, Intestinal pseudo-obstruction	OMIM:155310
Vater/Vacterl Association	Triphalangeal thumb, Abnormal sternum morphology, Hypoplasia of the radius, Radioulnar synostosis...	OMIM:192350
Scleroderma	Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab...	ORPHA:801
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Neonatal death	OMIM:619362
Dextrocardia	Abnormal rib morphology, Congenital hip dislocation, Abnormality of the spleen, Abnormal reproduc...	ORPHA:1666
Systemic Sclerosis	Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab...	ORPHA:90291
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Finger swelling, Hallux valgus, Increased circulating antibody level, Cl...	OMIM:256040
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Trisomy 18	Camptodactyly of finger, Narrow pelvis bone, Cachexia, Postaxial hand polydactyly, Cryptorchidism...	ORPHA:3380
Yunis-Varon Syndrome	Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Hip dislocation, Abs...	OMIM:216340
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Microcolon	OMIM:619431
Mucopolysaccharidosis Type 3	Genu valgum, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Abnormal clavicl...	ORPHA:581
Oculocerebrorenal Syndrome Of Lowe	Genu valgum, Anemia, Kyphosis, Death in infancy, Hip dislocation, Azoospermia, Platyspondyly, Fai...	ORPHA:534
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Finger syndactyly, Abnormal preputium morphology, Abnormal metacarpal mo...	ORPHA:2907
Charge Syndrome	Bifid scrotum, Labial hypoplasia, Clinodactyly of the 5th finger, Bifid femur, Abnormality of tib...	ORPHA:138
Pierson Syndrome	Retinal detachment, Retinal hemorrhage, Remnants of the hyaloid vascular system, Posterior lentic...	OMIM:609049
Meconium Ileus	Meconium ileus, Microcolon	OMIM:614665
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Colon perforation, Microcolon, Intestinal malrotation,...	OMIM:600001
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Anemia, Short 4th metacarpal, Finger syndactyly, Short 5th metacarpal, P...	ORPHA:2908
Alagille Syndrome 1	Butterfly vertebral arch, Hypoplasia of the ulna, Failure to thrive, Abnormal rib morphology, Sho...	OMIM:118450
Tetrasomy 9P	Sacral dimple, Small hand, Small toe, Missing ribs, Clinodactyly of the 5th finger, Aplasia/Hypop...	ORPHA:3310
Charge Syndrome	Hand monodactyly, External genital hypoplasia, Absent tibia, Labial hypoplasia, Hand polydactyly,...	OMIM:214800
Autosomal Recessive Malignant Osteopetrosis	Anemia, Narrow chest, Abnormal rib morphology, Abnormal metaphysis morphology, Abnormal epiphysis...	ORPHA:667
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia	OMIM:619351
Craniorachischisis	Bifid sternum	ORPHA:63260
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Holoprosencephaly 2	Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Neuroocular Syndrome	Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma	OMIM:619539
Norrie Disease	Retinal detachment, Remnants of the hyaloid vascular system, Optic atrophy	ORPHA:649

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 Cbx2

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 Cbx2.

No publications found that use IMPC mice or data for Cbx2.

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MGI Allele	Allele Type	Produced
Cbx2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cbx2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Cbx2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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Gene: Cbx2 MGI:88289

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

Adult LacZ

X-ray

X-ray

Human diseases caused by Cbx2 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data