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Gene: Tmco1 MGI:1921173

Gene Summary

Name:

transmembrane and coiled-coil domains 1

Synonyms:

ESTM39, 1190006A08Rik, 4930403O06Rik

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
corneal opacity	Tmco1^em1(IMPC)J	HET	Early adult	2.09×10^-06
female infertility	Tmco1^em1(IMPC)J	HOM	Early adult	0.00
increased leukocyte cell number	Tmco1^em1(IMPC)J	HET	Early adult	2.70×10^-05
preweaning lethality, incomplete penetrance	Tmco1^em1(IMPC)J	HOM	Early adult	0.00

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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MicroCT E18.5

Embryo reconstruction

5 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Tmco1 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 Tmco1 (2 diseases)
Human diseases predicted to be associated with Tmco1 (1334 diseases)

The table below shows human diseases associated to Tmco1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1		Wide nasal bridge, Micrognathia, Recurrent sinusitis, Supernumerary nipple, Postnatal growth reta...	OMIM:213980
Cerebrofaciothoracic Dysplasia		Wide nose, Ventriculomegaly, Short stature, Short nose	ORPHA:1394

The table below shows human diseases predicted to be associated to Tmco1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Female infertility, Oocyte arrest at metaphase I	OMIM:617743
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Corneal dystrophy, Corneal opacity, Band keratopathy	OMIM:300779
Oocyte/Zygote/Embryo Maturation Arrest 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility	OMIM:617996
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Ovarian Dysgenesis 9	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Ovarian Dysgenesis 10	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619834
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Premature Ovarian Failure 18	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Premature Ovarian Failure 8	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Premature Ovarian Failure 10	Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas...	OMIM:612885
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:612310
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,...	OMIM:273250
Premature Ovarian Failure 7	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l...	OMIM:612964
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon...	OMIM:615724
Perrault Syndrome 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614129
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El...	OMIM:617690
Androgen Insensitivity Syndrome	Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh...	OMIM:300068
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co...	OMIM:228300
Spermatogenic Failure 77	Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn...	OMIM:620103
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Spermatogenic Failure 28	Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu...	OMIM:618086
Ovarian Dysgenesis 3	Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo...	OMIM:614324
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Hypogonadism-Cataract Syndrome	Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona...	OMIM:240950
Premature Ovarian Failure 13	Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen...	OMIM:617442
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Corneal opacity, Ectopia lentis	OMIM:613086
Premature Ovarian Failure 17	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm...	OMIM:619146
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis	ORPHA:488191
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
46,Xy Sex Reversal 1	Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse...	OMIM:400044
Ovarian Dysgenesis 4	Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e...	OMIM:616185
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Ovarian Dysgenesis 8	Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim...	OMIM:618187
Complete Androgen Insensitivity Syndrome	Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp...	ORPHA:99429
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,...	OMIM:619949
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Premature Ovarian Failure 16	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced...	OMIM:618723
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula...	ORPHA:90797
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea	OMIM:615555
Spermatogenic Failure 14	Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul...	OMIM:618096
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ...	ORPHA:90796
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le...	ORPHA:251510
Spermatogenic Failure, X-Linked, 4	Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Premature Ovarian Failure 2A	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate...	OMIM:300511
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou...	ORPHA:261529
Premature Ovarian Failure 14	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618014
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In...	ORPHA:399805
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est...	ORPHA:168563
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Premature Ovarian Failure 20	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:619938
Corneal Dystrophy, Epithelial Basement Membrane	Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Ovarian Dysgenesis 2	Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon...	OMIM:300510
Obesity Due To Congenital Leptin Deficiency	Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of...	ORPHA:66628
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal opacity, Corneal guttata, Corneal stromal edema	OMIM:613267
Premature Ovarian Failure 5	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Obesity Due To Leptin Receptor Gene Deficiency	Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of...	ORPHA:179494
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g...	OMIM:614841
Perrault Syndrome 4	Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:615300
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Morquio Syndrome C	Corneal opacity	OMIM:252300
Functioning Gonadotropic Adenoma	Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ...	ORPHA:91348
Thiel-Behnke Corneal Dystrophy	Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor...	ORPHA:98960
Hypogonadotropic Hypogonadism 25 With Anosmia	Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici...	OMIM:618841
Precocious Puberty, Central, 1	Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut...	OMIM:176400
Hypergonadotropic Hypogonadism-Cataract Syndrome	Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin...	ORPHA:2410
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
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
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Rhizomelic Chondrodysplasia Punctata, Type 1	Flat face, Flexion contracture, Spasticity, Rhizomelia, Elevated circulating phytanic acid concen...	OMIM:215100
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Perrault Syndrome 6	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:617565
X-Linked Intellectual Disability, Van Esch Type	Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D...	ORPHA:163976
Corneal Endothelial Dystrophy	Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat...	OMIM:217700
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
46,Xx Gonadal Dysgenesis	Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat...	ORPHA:243
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula...	OMIM:400045
Chromosome Xq27.3-Q28 Duplication Syndrome	Hypogonadism, Decreased testicular size, Small for gestational age, Increased circulating gonadot...	OMIM:300869
Lattice Corneal Dystrophy Type I	Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys...	ORPHA:98964
Asherman Syndrome	Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c...	ORPHA:137686
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal...	ORPHA:2235
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Grant Syndrome	Flat face, Joint dislocation, Short stature, Micrognathia, Abnormal cortical bone morphology, Fac...	ORPHA:2097
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea	ORPHA:397685
Frasier Syndrome	Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad...	ORPHA:347
Premature Ovarian Failure 1	Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Leydig Cell Hypoplasia	Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea...	ORPHA:755
Ring Dermoid Of Cornea	Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma...	OMIM:180550
Cataract 21, Multiple Types	Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor...	OMIM:610202
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
X-Linked Intellectual Disability, Cilliers Type	Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone...	ORPHA:163971
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Polycystic ovaries, Ambiguous genitalia, Decreased testicular size	ORPHA:393
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea	OMIM:217300
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Flat face, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge,...	ORPHA:1529
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy...	OMIM:136800
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe...	OMIM:609441
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Gonadoblastoma	Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc...	ORPHA:206484
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co...	OMIM:250790
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Galactosialidosis	Corneal opacity	ORPHA:351
Normosmic Congenital Hypogonadotropic Hypogonadism	Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Dec...	ORPHA:432
49,Xxxyy Syndrome	Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Decreased tes...	ORPHA:261534
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy	OMIM:608470
Ovarian Fibrothecoma	Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra...	ORPHA:314478
Chondrodysplasia With Joint Dislocations, Gpapp Type	Flat face, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Wide nasal bridge, Coronal ...	OMIM:614078
Aarskog-Scott Syndrome	Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a...	OMIM:305400
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology	ORPHA:293621
Satoyoshi Syndrome	Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete...	ORPHA:3130
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,...	ORPHA:572333
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Corneal opacity, Microcornea	ORPHA:2432
Perrault Syndrome 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233400
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Estrogen Resistance Syndrome	Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal...	ORPHA:785
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Elevated ...	ORPHA:3044
Granular Corneal Dystrophy Type Ii	Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ...	ORPHA:98963
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Flat face, Short stature, Disproportionate short-limb short stature, Limited elbow extension, Enl...	ORPHA:156728
Non-Functioning Pituitary Adenoma	Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci...	ORPHA:91349
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia, Flat face, Wide nasal bridge, Coarse facial features, Round face, Anteverted nares,...	OMIM:615979
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Corneal opacity	ORPHA:1980
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co...	ORPHA:280356
Achondrogenesis	Flat face, Abnormal enchondral ossification, Micrognathia, Short nose, Severe short stature, Abno...	ORPHA:932
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Flat face, Short nose, Hypospadias, Depressed nasal bridge, Microcephaly, Cryptorchidism, Intraut...	OMIM:616910
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab...	OMIM:194072
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flat face, Flexion contracture, Fractured radius, Ventriculomegaly, Wide nasal bridge, Small for ...	OMIM:616897
Intellectual Developmental Disorder, X-Linked 30	Flat face, Short stature, Clumsiness, Hydrocephalus, Short nose, Microcephaly, Anteverted nares, ...	OMIM:300558
Central Precocious Puberty	Isosexual precocious puberty, Premature thelarche, Obesity, Increased circulating gonadotropin le...	ORPHA:759
Myotonic Dystrophy 2	Hypogonadism, Type II diabetes mellitus, Elevated circulating creatine kinase concentration, Olig...	OMIM:602668
46,Xy Sex Reversal 5	Elevated circulating follicle stimulating hormone level, Sex reversal	OMIM:613080
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Flat face, Wide nasal bridge, Short stature, Micrognathia, Camptodactyly, Short nose, Long face, ...	OMIM:613604
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility	ORPHA:1643
Congenital Hereditary Endothelial Dystrophy Type Ii	Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co...	ORPHA:293603
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Dental malocclusion, Flat face, Mandibular prognathia, Short stature, Ab...	ORPHA:1327
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Peroxisome Biogenesis Disorder 3B	Flat face, Depressed nasal ridge, Elevated circulating phytanic acid concentration, Abnormal faci...	OMIM:266510
Maxillonasal Dysplasia	Flat face, Mandibular prognathia, Abnormal nostril morphology, Depressed nasal ridge, Short nose,...	ORPHA:1248
Non-Distal Trisomy 10Q	Convex nasal ridge, Cognitive impairment, Short stature, Micrognathia, Short nose, Depressed nasa...	ORPHA:1695
Al-Raqad Syndrome	Gait ataxia, Flat face, Inability to walk, Joint laxity, Short nose, Microcephaly	OMIM:616459
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormality of the ovary, Abnormal vagina morphology, Primary...	ORPHA:247768
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease...	ORPHA:95699
Achondrogenesis Type 1B	Flat face, Abnormal enchondral ossification, Micrognathia, Short nose, Disproportionate short sta...	ORPHA:93298
49,Xyyyy Syndrome	Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Externa...	ORPHA:99330
Pituicytoma	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Flat face, Wide nasal bridge, Short stature, Camptodactyly, Round face, Microcephaly, Growth dela...	OMIM:617333
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure...	ORPHA:2795
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar...	ORPHA:2232
Distal Monosomy 7Q36	Flat face, Short stature, Micrognathia, Hypoplasia of penis, Large face, Microcephaly, Hypertonia...	ORPHA:1636
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
17Q21.31 Microduplication Syndrome	Micrognathia, Short nose, Failure to thrive, Delayed puberty, Microcephaly, Anteverted nares	ORPHA:217340
Achondrogenesis Type 1A	Flat face, Abnormal enchondral ossification, Recurrent fractures, Micrognathia, Short nose, Sever...	ORPHA:93299
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
Fatty Acyl-Coa Reductase 1 Deficiency	Inability to walk, Short stature, Abnormal facial shape, Short nose, Spastic tetraparesis, Depres...	ORPHA:438178
Emery-Nelson Syndrome	Camptodactyly of finger, Flat face, Depressed nasal bridge, Interphalangeal thumb joint contracture	ORPHA:1927
Lethal Osteosclerotic Bone Dysplasia	Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna...	ORPHA:1832
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit...	ORPHA:2975
Arthrogryposis, Distal, Type 2A	Wrist flexion contracture, Wide nasal bridge, Elbow flexion contracture, Camptodactyly, Hip dislo...	OMIM:193700
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Flat face, Genu valgum, Mandibular prognathia, Depressed nasal ridge, Rhizomelia, Shor...	ORPHA:2831
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ...	ORPHA:98969
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Granular Corneal Dystrophy Type I	Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c...	ORPHA:98962
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Short stature, Small for gestational age, Micrognathia, Intrauterine growth re...	OMIM:612626
Kyphomelic Dysplasia	Flat face, Micrognathia, Flat acetabular roof, Limitation of joint mobility, Disproportionate sho...	ORPHA:1801
Orofaciodigital Syndrome Xv	Anteverted nares, Flat face, Ventriculomegaly, Wide nasal bridge	OMIM:617127
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif...	OMIM:107250
Pde4D Haploinsufficiency Syndrome	Broad face, Flat face, Mandibular prognathia, Prominent nose, Coarse facial features, Micrognathi...	ORPHA:439822
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol...	ORPHA:3085
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short stature, Round face, Short nose, Hypospadias, Anteverted nares	ORPHA:1355
Dysostosis, Stanescu Type	Flat face, Convex nasal ridge, Short stature, Massively thickened long bone cortices, Abnormal na...	ORPHA:1798
20Q11.2 Microduplication Syndrome	Retrognathia, Flat face, Wide nasal bridge, Bifid scrotum, Coarse facial features, Abnormal nasal...	ORPHA:363659
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
Bone Dysplasia, Lethal Holmgren Type	Flat face, Joint dislocation, Abnormality of the elbow, Weight loss, Depressed nasal ridge, Rhizo...	ORPHA:1842
Polycystic Ovary Syndrome 1	Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Congenital Disorder Of Glycosylation, Type Ii	Flat face, Decreased body weight, Ventriculomegaly, Wide nasal bridge, Short stature, Joint laxit...	OMIM:607906
Adenylosuccinate Lyase Deficiency	Abnormal facial shape, Short nose, Microcephaly, Anteverted nares, Prominent metopic ridge	ORPHA:46
Thoracomelic Dysplasia	Flat face, Genu valgum, Gait disturbance, Round face, Elbow dislocation, Disproportionate short-l...	ORPHA:1803
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Flat face, Achilles tendon contracture, Congenital hip ...	OMIM:619719
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal guttata, Corneal dystrophy	OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal...	OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type	Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy	OMIM:602082
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Camptodactyly of finger, Flat face, Short stature, Microretrognathia, Limitation of joint mobilit...	ORPHA:2994
Hao-Fountain Syndrome	Delayed cranial suture closure, Apraxia, Abnormal facial shape, Large fontanelles, Cryptorchidism...	OMIM:616863
Bardet-Biedl Syndrome	Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Cryptorchidism, Obesity	ORPHA:110
Codas Syndrome	Flat face, Short stature, Delayed eruption of teeth, Short nose, Midline defect of the nose, Cong...	ORPHA:1458
Peroxisome Biogenesis Disorder 7A (Zellweger)	Flat face, Wide anterior fontanel, Elevated circulating tetracosanoic acid concentration, Epiphys...	OMIM:614872
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Flat face, Hyperalaninemia, Wide nasal bridge, Small for gestational age, Intrauterine growth ret...	OMIM:614052
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Flat face, Patellar hypoplasia, Depressed nasal ridge, Abnormal facial shape, Pseud...	ORPHA:464288
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Ventriculomegaly, Short stature, Micrognathia, Short nose, Microcephaly,...	ORPHA:1495
Peroxisome Biogenesis Disorder 3A (Zellweger)	Flat face, Epiphyseal stippling, Wide nasal bridge	OMIM:614859
Corneal Dystrophy, Meesmann, 1	Corneal dystrophy, Punctate opacification of the cornea	OMIM:122100
Wiedemann-Steiner Syndrome	Wide nose, Flat face, Wide nasal bridge, Short stature, Micrognathia, Intrauterine growth retarda...	OMIM:605130
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Thanatophoric Dysplasia	Flat face, Ventriculomegaly, Hydrocephalus, Depressed nasal bridge, Disproportionate short-limb s...	ORPHA:2655
Cutis Laxa, Autosomal Recessive, Type Iia	Flat face, Wide anterior fontanel, Joint hypermobility, Short nose, Congenital hip dislocation, F...	OMIM:219200
Thanatophoric Dysplasia Type 2	Flat face, Cognitive impairment, Ventriculomegaly, Short stature, Hydrocephalus, Limitation of jo...	ORPHA:93274
Metaphyseal Acroscyphodysplasia	Genu varum, Flat face, Joint dislocation, Depressed nasal ridge, Wide nasal bridge, Severe short ...	ORPHA:1240
Winchester Syndrome	Corneal opacity	OMIM:277950
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Flat face, Abnormal facial shape, Camptodactyly, Depressed nasal bridge, Growth delay, Osteoporosis	OMIM:616006
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Congenital knee dislocation, Abnormal circulating creatine kinase concentration, Inability to wal...	ORPHA:319332
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi...	ORPHA:457083
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu...	ORPHA:95619
Hyperostosis Frontalis Interna	Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity	OMIM:144800
Intellectual Developmental Disorder, X-Linked 91	Cubitus valgus, Abnormal facial shape, Obesity, Short nose	OMIM:300577
Anterior Segment Dysgenesis 2	Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor...	OMIM:610256
Zellweger Syndrome	Flat face, Cognitive impairment, Wide anterior fontanel, Wide nasal bridge, Short stature, Microg...	ORPHA:912
Keratoendotheliitis Fugax Hereditaria	Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia	OMIM:148200
Autosomal Recessive Stickler Syndrome	Flat face, Genu valgum, Short stature, Micrognathia, Joint hyperflexibility	ORPHA:250984
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Short nos...	OMIM:614732
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Abnormal pyramidal sign, Spastic tetraplegia, Micrognathia, Short nose, Triangular face, Microcep...	OMIM:615419
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin...	ORPHA:171673
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Fuchs Endothelial Corneal Dystrophy	Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci...	ORPHA:98974
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Short sta...	OMIM:619489
47,Xyy Syndrome	Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop...	ORPHA:8
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie...	ORPHA:90301
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Flat face, Short stature, Craniofacial hyperostosis, Radioulnar synostosis, Limitation of joint m...	ORPHA:2725
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Short stature, Anteverted nares, Short nose	ORPHA:2015
Baker-Gordon Syndrome	Inability to walk, Prominent nasal tip, Choreoathetosis, Joint laxity, Ataxia, Short nose, Involu...	OMIM:618218
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Hypoplastic labia majora, Clitoral hypoplasia, Elevated circulating lu...	OMIM:618419
Blepharophimosis-Impaired Intellectual Development Syndrome	Underdeveloped nasal alae, Enamel hypoplasia, Dental malocclusion, Flat face, Flexion contracture...	OMIM:619293
Developmental And Epileptic Encephalopathy 73	Flexion contracture, Short nose, Failure to thrive, Narrow nasal bridge, Microcephaly, Hypertonia	OMIM:618379
Larsen-Like Syndrome	Dental malocclusion, Flat face, Joint dislocation, Wide anterior fontanel, Absent nasal bridge, S...	OMIM:608545
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Spasticity, Contractures of the large joints, Small fontanelle, Lateral...	ORPHA:3078
Burkitt Lymphoma	Abnormality of the ovary, Hyperuricemia	ORPHA:543
Vulto-Van Silfhout-De Vries Syndrome	Flat face, Mandibular prognathia, Gait disturbance, Joint laxity, Pain insensitivity	OMIM:615828
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact...	OMIM:102200
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ...	ORPHA:3464
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Flat face, Hip contracture, Joint contracture of the hand, Short statu...	OMIM:255800
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:79085
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level...	OMIM:110100
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Gm1-Gangliosidosis, Type Ii	Thin bony cortex, Flat face, Ventriculomegaly, Spastic tetraplegia, Coarse facial features, Gait ...	OMIM:230600
Tetrasomy 5P	Flat face, Wide anterior fontanel, Wide nasal bridge, Coarse facial features, Micrognathia, Hydro...	ORPHA:3309
16P11.2P12.2 Microdeletion Syndrome	Camptodactyly of finger, Flat face, Absent nasal bridge, Short stature, Microretrognathia, Short ...	ORPHA:261211
Distal Trisomy 5Q	Flat face, Short stature, Aplasia/Hypoplasia of the gallbladder, Prominent nasal bridge, Microgna...	ORPHA:96097
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,...	OMIM:615363
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Spasticity, Wide nasal bridge, Short stature, Small for gestational age, Micrognath...	OMIM:613792
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Hydrocephalus, Radioulnar synostosis, Short nose, Spastic tetraparesis, Short colum...	ORPHA:171839
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Flat face, Restricted large joint movement, Coarse facial features, Micrognathia, Delayed ossific...	ORPHA:93346
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short stature, Primary microcephaly, Small for gestational age, Short nose, Speech apraxia	OMIM:245570
Abruzzo-Erickson Syndrome	Flat face, Short stature, Radioulnar synostosis, Hypospadias, Cryptorchidism, Coronal hypospadias	ORPHA:921
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Epithelial Recurrent Erosion Dystrophy	Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit...	ORPHA:293381
Phosphoribosylaminoimidazole Carboxylase Deficiency	Flat face, Choanal stenosis, Short stature, Bilateral cryptorchidism, Short nose, Bilateral choan...	OMIM:619859
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h...	ORPHA:91354
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Small scrotum, Cognitive impairment, Ventricu...	ORPHA:2083
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed cranial suture closure, Retrognathia, Flat face, Wide nasal bridge, Delayed eruption of t...	ORPHA:2780
Multiple Sulfatase Deficiency	Flat face, Spasticity, Ventriculomegaly, Short stature, Coarse facial features, Hydrocephalus, At...	OMIM:272200
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu...	ORPHA:1772
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Distal Trisomy 18Q	Camptodactyly of finger, Abnormality of female external genitalia, Cognitive impairment, Microgna...	ORPHA:1716
Dyssegmental Dysplasia, Silverman-Handmaker Type	Flat face, Wide nasal bridge, Micrognathia, Pterygium, Severe short stature, Disproportionate sho...	OMIM:224410
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Oligomenorrhea, Maternal diabetes, Po...	OMIM:604367
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, U...	OMIM:618577
Rhizomelic Chondrodysplasia Punctata	Flat face, Rhizomelia, Short stature, Epiphyseal stippling, Limitation of joint mobility, Microce...	ORPHA:177
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Flat face, Rhizomelia, Short stature, Micrognathia, Short nose, Progressive ventriculomegaly, Fai...	OMIM:602613
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Flat face, Genu valgum, Round face, Short stature	OMIM:132450
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Spasticity, Cognitive impairment, Wide nasal bridge, Delayed eruption of...	ORPHA:2863
Pituitary Gigantism	Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Increase...	ORPHA:99725
Congenital Primary Aphakia	Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Alazami Syndrome	Wide nose, Decreased body weight, Wide nasal bridge, Triangular face, Severe short stature, Depre...	OMIM:615071
Desbuquois Dysplasia 2	Genu varum, Flat face, Advanced ossification of carpal bones, Coarse facial features, Flat acetab...	OMIM:615777
Peroxisome Biogenesis Disorder 12A (Zellweger)	Delayed closure of the anterior fontanelle, Decreased body weight, Wide anterior fontanel, Wide n...	OMIM:614886
Chondrodysplasia Punctata 2, X-Linked Dominant	Flat face, Patellar dislocation, Ventriculomegaly, Rhizomelia, Epiphyseal stippling, Elevated 8(9...	OMIM:302960
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa...	ORPHA:64739
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Flat face, Ventriculomegaly, Elbow flexion contracture, Short nose, Contracture of the proximal i...	OMIM:612394
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Polycystic ovaries, Abnormal circulating lipid concentration	OMIM:608709
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon	ORPHA:1473
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:435651
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Short nose, Broad nasal tip, Obesity, Failure to thrive in infancy, Speech apraxia	OMIM:613670
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa...	ORPHA:91347
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Anterior...	OMIM:610967
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type	Prominent nose, Coarse facial features, Triangular face, Bulbous nose, Thick nasal alae	ORPHA:293707
Apert Syndrome	Delayed cranial suture closure, Ventriculomegaly, Humeroradial synostosis, Delayed eruption of te...	OMIM:101200
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Flat face, Wide nasal bridge, Micrognathia, Round face, Large fontanelles, Anteverted nares	OMIM:602562
46,Xx Ovotesticular Disorder Of Sex Development	Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Hyperinsulinemia, Pancreatitis, Polycystic ovaries	ORPHA:79084
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Metopic suture patent to nasal root, Convex nasal ridge, Wide nasal bridge, Short stature, Small ...	ORPHA:3369
Tetragametic Chimerism	Ambiguous genitalia, Abnormality of the scrotum, Abnormal testis morphology, Bifid scrotum, Perin...	ORPHA:199310
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Spasticity, Mandibular prognathia, Coarse facial features, Gait disturbance, Short nose, Truncal ...	ORPHA:2429
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Cebalid Syndrome	Flat face, Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares	OMIM:618774
9Q31.1Q31.3 Microdeletion Syndrome	Flat face, Mandibular prognathia, Short stature, Abnormal facial shape, Broad nasal tip, Overweig...	ORPHA:401923
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Flat face, Short stature, Micrognathia, Short nose, Failure to thrive, Depressed nasal bridge, An...	OMIM:242860
Developmental And Epileptic Encephalopathy 89	Flat face, Flexion contracture, Spasticity, Wide nasal bridge, Hypoplastic labia minora, Hypoplas...	OMIM:619124
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Flat face, Stillbirth, Neonatal short-limb short s...	OMIM:600972
Chromosome 16Q22 Deletion Syndrome	Wide anterior fontanel, Wide nasal bridge, Small for gestational age, Micrognathia, Failure to th...	OMIM:614541
Prolactinoma	Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency...	ORPHA:2965
Pfeiffer Syndrome	Flat face, Mandibular prognathia, Wide nasal bridge, Short stature, Synostosis of carpal bones, F...	ORPHA:710
Otopalatodigital Syndrome, Type I	Flat face, Delayed closure of the anterior fontanelle, Accessory carpal bones, Capitate-hamate fu...	OMIM:311300
Thanatophoric Dysplasia Type 1	Flat face, Wide anterior fontanel, Ventriculomegaly, Hydrocephalus, Depressed nasal bridge, Abnor...	ORPHA:1860
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea...	ORPHA:90795
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Flat face, Ventriculomegaly, Short stature, Hydrocephalus, Hip dislocation, Hypoplasia of the max...	OMIM:109120
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Elevated circulating creatine kinase concentration, Decreased s...	ORPHA:435660
Richieri Costa-Da Silva Syndrome	Generalized bone demineralization, Joint dislocation, Flat face, Genu valgum, Inability to walk, ...	ORPHA:3101
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea	OMIM:116200
Proximal 16P11.2 Microduplication Syndrome	Flat face, Short stature, Failure to thrive, Tremor, Microcephaly, Decreased body mass index, Mic...	ORPHA:370079
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Wrist swelling, Wide nasal bridge, Micrognathia, Cachexia, Abnormality o...	ORPHA:2774
Robinow-Sorauf Syndrome	Flat face, Pansynostosis, Narrow nose, Long nose, Craniosynostosis	OMIM:180750
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Spasticity, Flexion contracture, Ventriculomegaly, Spastic tetraplegia, Short stature,...	OMIM:615851
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondar...	OMIM:268020
3-Hydroxyisobutyric Aciduria	Ventriculomegaly, Micrognathia, Triangular face, Microcephaly, Hypogonadotropic hypogonadism, Int...	ORPHA:939
Kleefstra Syndrome 1	Tracheobronchomalacia, Flat face, Mandibular prognathia, Natal tooth, Coarse facial features, Hyp...	OMIM:610253
Peho-Like Syndrome	Retrognathia, Ventriculomegaly, Myoclonus, Short nose, Progressive microcephaly	OMIM:617507
Flat Face-Microstomia-Ear Anomaly Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Flat face, Wide nasal bridge, Micrognathia, L...	ORPHA:1968
Autosomal Dominant Keratitis	Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr...	ORPHA:2334
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Decreased body weight, Primary microcephaly, Small for gestational age, Abnormal facia...	ORPHA:391408
Preeclampsia	Increased body mass index, Small for gestational age, Type I diabetes mellitus, Polycystic ovarie...	ORPHA:275555
Lowry-Maclean Syndrome	Convex nasal ridge, Micrognathia, Widely patent coronal suture, Choanal atresia, Talon cusp, Hydr...	ORPHA:2409
Slc39A8-Cdg	Knee flexion contracture, Failure to thrive in infancy, Flat face, Ventriculomegaly, Inability to...	ORPHA:468699
Dyssegmental Dysplasia, Silverman-Handmaker Type	Flat face, Flexion contracture, Wide nasal bridge, Micrognathia, Hydrocephalus, Pterygium, Limita...	ORPHA:1865
Pierpont Syndrome	Wide nose, Broad face, Decreased body weight, Short stature, Short nose, Failure to thrive, Broad...	OMIM:602342
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,...	ORPHA:90791
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Epiphyseal stippling, Camptodactyly, Round face, Large fontanelles, Conjugated hype...	OMIM:614866
Periventricular Nodular Heterotopia 7	Knee flexion contracture, Micrognathia, Elbow contracture, Ataxia, Round face, Microretrognathia,...	OMIM:617201
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Distal arthrogryposis, Ventriculomegaly, Cerebral palsy, Short stature, Coarse facial features, M...	OMIM:619833
Autosomal Recessive Cutis Laxa Type 2A	Delayed cranial suture closure, Increased susceptibility to fractures, Dilated fourth ventricle, ...	ORPHA:357058
Trisomy 12P	Flat face, Wide nasal bridge, Short stature, Micrognathia, Supernumerary nipple, Short nose	ORPHA:1699
Brittle Cornea Syndrome 2	Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato...	OMIM:614170
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Inability to walk, Metatarsal osteolysis, Micrognathia, Triangular face, Metacarp...	OMIM:166300
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Hip contracture, Prominent nose, Inability to walk, Prominent nasal bridge, Cachexia,...	OMIM:616801
Potocki-Shaffer syndrome	Delayed cranial suture closure, Abnormality of the male genitalia	DECIPHER:34
Apert Syndrome	Flat face, Mandibular prognathia, Convex nasal ridge, Ovarian neoplasm, Ventriculomegaly, Delayed...	ORPHA:87
Autosomal Recessive Kenny-Caffey Syndrome	Delayed cranial suture closure, Hypocalcemic tetany, Calvarial osteosclerosis, Cortical thickenin...	ORPHA:93324
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Fibrochondrogenesis 1	Flat face, Wide anterior fontanel, Joint contracture of the hand, Rhizomelia, Camptodactyly, Wide...	OMIM:228520
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hypercholesterolemia, Hyperinsulinemia, Increased C-peptide level,...	ORPHA:528
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Hip subluxation, Genu varum, Flat face, Genu valgum, Radial head subluxation, Generalized joint l...	ORPHA:93360
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Abnormal testis m...	ORPHA:457059
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Hyperhidrosis, Increased circulating prolactin conc...	ORPHA:300373
Silver-Russell Syndrome 4	Small for gestational age, Decreased body weight, Birth length less than 3rd percentile, Triangul...	OMIM:618907
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Facial asymmetry, Triangular face, Failure to thrive, S...	ORPHA:231144
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Delayed closure of the anterior fontanelle, Decreased body weight, Short stature, Small for gesta...	ORPHA:231140
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Flat face, Ventriculomegaly, Wide nasal bridge, Short stature, Radioulnar synostosis, Short nose,...	OMIM:614701
Otospondylomegaepiphyseal Dysplasia	Flat face, Micrognathia, Limitation of joint mobility, Disproportionate short stature, Depressed ...	ORPHA:1427
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Flat face, Round face	ORPHA:2536
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Flat face, Delayed closure of the anterior fontanelle, Cognitive impairment, Limited elbow moveme...	OMIM:610759
Down Syndrome	Flat face, Depressed nasal ridge, Gait disturbance, Joint laxity, Short nose, Impaired pain sensa...	ORPHA:870
Campomelic Dysplasia	Tracheobronchomalacia, Flat face, Ambiguous genitalia, Recurrent fractures, Ventriculomegaly, Sho...	ORPHA:140
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Flat face, Short stature, Multiple pterygia, Pterygium, Microretrognathia, Hypoplastic female ext...	OMIM:177980
Metaphyseal Acroscyphodysplasia	Genu varum, Flat face, Wide nasal bridge, Severe short stature, Anteverted nares, Craniosynostosis	OMIM:250215
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Advanced ossification of carpal bones, Round face, Short nose, Depressed n...	OMIM:614613
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Shoulder dislocation, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial...	OMIM:245600
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat face, Wide anterior fontanel, Micrognathia, Epiphyseal stippling, Round face, Elevated circu...	OMIM:214100
Short Stature, Brussels Type	Short stature, Abnormal facial shape, Microretrognathia, Triangular face, Growth delay, Delayed e...	ORPHA:2867
Seckel Syndrome 10	Diabetes mellitus, Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated h...	OMIM:617253
Wiedemann-Steiner Syndrome	Flat face, Decreased response to growth hormone stimulation test, Abnormality of the elbow, Wide ...	ORPHA:319182
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Flat face, Advanced ossification of carpal bones, Joint contracture of the hand, Micrognathia, Hy...	OMIM:224400
Intellectual Developmental Disorder, Autosomal Dominant 59	Flat face, Mild short stature, Short stature	OMIM:618522
Encephalopathy Due To Sulfite Oxidase Deficiency	Spasticity, Hemiplegia/hemiparesis, Ataxia, Short nose, Spastic tetraparesis, Microcephaly	ORPHA:833
Gomez-Lopez-Hernandez Syndrome	Cognitive impairment, Wide anterior fontanel, Decreased response to growth hormone stimulation te...	OMIM:601853
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Convex nasal ridge, Ventriculomegaly, Triangular face, ...	OMIM:616541
Aymé-Gripp Syndrome	Delayed cranial suture closure, Flat face, Ventriculomegaly, Short stature, Hydrocephalus, Campto...	ORPHA:1272
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Decreased body weight, Ventriculomegaly, Wide nasal bridge, Short stature, Microgna...	OMIM:618342
Pituitary Hormone Deficiency, Combined, 2	Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A...	OMIM:262600
Marshall Syndrome	Flat face, Genu valgum, Wide nasal bridge, Short stature, Micrognathia, Short nose, Hypoplasia of...	ORPHA:560
Combined Oxidative Phosphorylation Deficiency 25	Decreased response to growth hormone stimulation test, Wide nasal bridge, Short stature, Short no...	OMIM:616430
Diabetes Insipidus, Neurohypophyseal	Wide nose, Central diabetes insipidus, Osteopenia, Short nose	OMIM:125700
Spondyloepiphyseal Dysplasia Congenita	Flat face, Genu valgum, Limited elbow movement, Coarse facial features, Micrognathia, Flat acetab...	ORPHA:94068
Osteogenesis Imperfecta, Type Xxii	Abnormal circulating calcium concentration, Thin bony cortex, Dentinogenesis imperfecta, Recurren...	OMIM:619795
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Micrognathia, Recurrent sinusitis, Supernumerary nipple, Postnatal growth reta...	OMIM:213980
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Cognitive impairment, Short stature, Micrognathia, Short nose, Abnormality of...	ORPHA:2145
Silver-Russell Syndrome 5	Small for gestational age, Intrauterine growth retardation, Birth length less than 3rd percentile...	OMIM:618908
Chromosome 6Q11-Q14 Deletion Syndrome	Short stature, Primary microcephaly, Micrognathia, Bilateral cryptorchidism, Joint laxity, Short ...	OMIM:613544
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal dystrophy, Corneal guttata	OMIM:609141
Silver-Russell Syndrome 3	Retrognathia, Ambiguous genitalia, Decreased body weight, Short stature, Small for gestational ag...	OMIM:616489
Mucolipidosis Type Ii	Knee flexion contracture, Flat face, Hip contracture, Cognitive impairment, Weight loss, Inabilit...	ORPHA:576
Mccune-Albright Syndrome	Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu...	ORPHA:562
Juvenile Temporal Arteritis	Conjunctivitis, Leukocytosis, Eosinophilia	ORPHA:26137
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Intrauterine growth retardation, Short stature, Reduced bone mineral density	ORPHA:2370
Chung-Jansen Syndrome	Micrognathia, Round face, Short nose, Joint hypermobility, Anteverted nares, Cryptorchidism, Obesity	OMIM:617991
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Schwartz-Jampel Syndrome	Wrist flexion contracture, Blepharospasm, Decreased body weight, Increased bone mineral density, ...	ORPHA:800
Stickler Syndrome, Type Iv	Flat face, Genu valgum, Short stature	OMIM:614134
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Simosa Craniofacial Syndrome	Underdeveloped nasal alae, Flat face, Wide nasal bridge, Long nose, Long face, Depressed nasal tip	OMIM:182150
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Gait disturbance, Cryptorchidism, Ataxia, Triangular face	ORPHA:1174
Mevalonic Aciduria	Short stature, Ataxia, Triangular face, Large fontanelles, Microcephaly	ORPHA:29
Three M Syndrome 1	Joint dislocation, Mandibular prognathia, Short stature, Small for gestational age, Decreased tes...	OMIM:273750
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short stature, Primary microcephaly, Small for gestational age, Abnormal facial shape, Myoclonus,...	ORPHA:289266
Chondrodysplasia Punctata 1, X-Linked Recessive	Hypogonadism, Short stature, Epiphyseal stippling, Short nose, Depressed nasal bridge, Anosmia, M...	OMIM:302950
Smith-Magenis Syndrome	Precocious puberty, Ventriculomegaly, Wide nasal bridge, Micrognathia, Taurodontia, Large face, H...	ORPHA:819
Bangstad Syndrome	Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l...	ORPHA:1227
Larsen Syndrome	Flat face, Accessory carpal bones, Short stature, Large joint dislocations, Laryngotracheomalacia...	ORPHA:503
Mullegama-Klein-Martinez Syndrome	Prominent nose, Wide nasal bridge, Short stature, Micrognathia, Abnormal facial shape, Triangular...	OMIM:301022
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, External genital hypoplasia, Facial asymmetry, Triangular face, Second...	ORPHA:231147
Pituitary Apoplexy	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:95613
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Knee flexion contracture, Enlarged naris, Hip contracture, Wide nasal bridge, Spastic tetraplegia...	ORPHA:371364
Acromicric Dysplasia	Bulbous nose, Round face, Short nose, Severe short stature, Anteverted nares, Joint stiffness	ORPHA:969
Miller-Dieker Syndrome	Anteverted nares, Growth delay, Ataxia, Short nose	ORPHA:531
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Flat face, Mandibular prognathia, Round face, Depressed nasal bridge, Hypospadias, Microcephaly, ...	OMIM:619103
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Flat face	OMIM:616994
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Recurrent fractures, Short stature, Coronal craniosynostosis, Hydrocep...	OMIM:616294
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flat face, Flexion contracture, Ambiguous genitalia, Depressed nasal ridge, Short stature, Abnorm...	ORPHA:847
Desbuquois Dysplasia 1	Advanced ossification of carpal bones, Round face, Advanced tarsal ossification, Radioulnar dislo...	OMIM:251450
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Delayed ...	OMIM:613849
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Flat face, Joint contracture of the hand, Delayed eruption of teeth, Coronal cranio...	OMIM:235510
Trigonocephaly 1	Wide nasal bridge, Long penis, Short nose, Microcephaly, Metopic synostosis, Craniosynostosis	OMIM:190440
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Flat face, Flat acetabular roof, Disproportionate short-limb short stature, Limited elbow extensi...	OMIM:608728
17P13.3 Microduplication Syndrome	Wide nose, Ventriculomegaly, Hypoplasia of penis, Short nose, Congenital hip dislocation	ORPHA:217385
Alpha-Mannosidosis, Infantile Form	Flat face, Genu valgum, Facial shape deformation, Talipes valgus, Mandibular prognathia, Coarse f...	ORPHA:309282
Hypoplasminogenemia	Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis, Decreased level of plas...	ORPHA:722
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Flat face, Rhizomelia, Coarse facial features, Decreased cranial base ossification, Flat acetabul...	OMIM:151210
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Triangular face, Failure to thrive, Large face, Depressed nasal bridge, L...	OMIM:614883
Achondrogenesis, Type Ia	Flat face, Abnormal foot bone ossification, Unossified vertebral bodies, Short nose, Hypoplastic ...	OMIM:200600
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Short stature, Abnormal cortical bone morphology, Limitation of joint ...	ORPHA:166277
Alagille Syndrome	Flat face, Coarse facial features, Micrognathia, Round face, Failure to thrive, Delayed puberty, ...	ORPHA:52
Edinburgh Malformation Syndrome	Micrognathia, Hydrocephalus, Short nose, Failure to thrive, Anteverted nares, Hypertonia, Joint s...	ORPHA:1895
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Short nose, Micropenis, Wormian bones	OMIM:601224
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Narrow nasal ridge, Short stature, Hip dislocation, Hypoprolinemia, Joint hyper...	OMIM:219150
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Wide nasal bridge, Short stature, Camptodactyly, Round face, Ataxia, Trian...	ORPHA:369891
Herpes Simplex Virus Stromal Keratitis	Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha...	ORPHA:137599
Rhiny	Anteverted nares, Short nose	OMIM:180360
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Short stature, Small for gestational age, Labial hypoplasia, Facial asymmetry, Triangular face, N...	ORPHA:231137
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Retrognathia, Spasticity, Flexion contracture, Mandibular prognathia, Prominent nasolabial fold, ...	ORPHA:391372
Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Multiple joint contractures, Patellar dislocation, Micrognathia, Elbow flexi...	ORPHA:536471
Distal Monosomy 10Q	Poor fine motor coordination, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Ocul...	ORPHA:96148
Omodysplasia 1	Limited knee flexion/extension, Flat face, Anterolateral radial head dislocation, Rhizomelia, Wid...	OMIM:258315
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Microcephaly	ORPHA:2787
Congenital Myopathy 19	Depressed nasal ridge, Micrognathia, Gait disturbance, Triangular face, Cryptorchidism, Congenita...	OMIM:618578
Burn-Mckeown Syndrome	Short stature, Wide nasal bridge, Short nose, Bilateral choanal atresia, Prominent nasal bridge	ORPHA:1200
Desmosterolosis	Spasticity, Ventriculomegaly, Joint contracture of the hand, Ambiguous genitalia, female, Abnorma...	OMIM:602398
Mulibrey Nanism	Wide nose, Dental malocclusion, Enamel hypoplasia, Ventriculomegaly, Wide nasal bridge, Short sta...	OMIM:253250
Warburg Micro Syndrome 3	Ankle clonus, Flexion contracture, Ventriculomegaly, Inability to walk, Spastic tetraplegia, Decr...	OMIM:614222
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Flat face, Flexion contracture, Joint dislocation, Recurrent fractures, Wide nasal bridge, Short ...	OMIM:130070
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Delayed closure of the anterior fontanelle, Spasticity, Generalized joint laxity, Short stature, ...	ORPHA:357074
Kbg Syndrome	Underdeveloped nasal alae, Vertebral fusion, Short stature, Prominent nasal bridge, Round face, T...	ORPHA:2332
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Increased susceptibility to fractures, Genu varum, Enamel hypoplasia, Short sta...	ORPHA:289157
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Delayed eruption of teeth, Small for gestational age, Abnormal facial shape, Microg...	ORPHA:73272
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Gangliocytoma	Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ...	ORPHA:251937
17P11.2 Microduplication Syndrome	Poor fine motor coordination, Short stature, Micrognathia, Triangular face, Failure to thrive, Mi...	ORPHA:1713
Perlman Syndrome	Retrognathia, Wide nasal bridge, Micrognathia, Hypoplasia of penis, Round face, Short nose, Antev...	ORPHA:2849
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Round face, Short nose, Long face, Microcephaly, Bulbous nose, Obesity	OMIM:611936
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui...	ORPHA:91351
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Progressive spasticity, Coarse facial features, Advanced eruption of teeth, Ataxia, Short nose, B...	OMIM:617865
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Gait ataxia, Delayed cranial suture closure, Flexion contracture, Ventriculomegaly, Wide nasal br...	OMIM:619383
Atopic Keratoconjunctivitis	Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis	ORPHA:163934
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita...	ORPHA:276152
Harel-Yoon Syndrome	Spasticity, Mandibular prognathia, Inability to walk, Micrognathia, Ataxia, Short nose, Long face	OMIM:617183
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Convex nasal ridge, Prominent nose, Wide nasal bridge, Short stature, Small for ge...	OMIM:609625
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Wide nasal bridge, Inability to walk, Short nose, Broad nasal tip, ...	OMIM:615716
Intellectual Disability-Strabismus Syndrome	Micrognathia, Spasticity, Prominent nose, Limitation of joint mobility, Short nose, Microcephaly,...	ORPHA:363528
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal facial shape, Poor coordination, Gait disturbance, Ataxia, Abnormality of pain sensation...	ORPHA:544254
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Increased susceptibility to fractures, Flat face, Advanced ossification of carpal bones, Decrease...	OMIM:615349
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hyperextensibility at wrists, Flexion contracture, Spasticity, Inability to walk, Limb hypertonia...	ORPHA:481152
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Flexion contracture, Ventriculomegaly, Wide nasal bridge, Inability to walk, Facial asymmetry, Sh...	OMIM:218000
Autosomal Recessive Omodysplasia	Rhizomelia, Short stature, Micrognathia, Pterygium, Short nose, Elbow dislocation, Depressed nasa...	ORPHA:93329
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short columella, Depressed nasal bridge, Short nose	OMIM:155050
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Underdeveloped nasal alae, Wide nasal bridge, Bifid scrotum, Short stature, Microgn...	OMIM:613026
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Icf Syndrome	Flat face, Short stature, Micrognathia, Communicating hydrocephalus, Depressed nasal bridge	ORPHA:2268
Jaberi-Elahi Syndrome	Gait ataxia, Inability to walk, Appendicular spasticity, Choreoathetosis, Joint hypermobility, Sh...	OMIM:617988
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Shor...	OMIM:613443
Distal Monosomy 12Q	Flat face, Wide anterior fontanel, Short stature, Coarse facial features, Abnormal facial shape, ...	ORPHA:96149
Progressive Non-Infectious Anterior Vertebral Fusion	Flat face, Wide nasal bridge, Abnormal facial shape, Micrognathia, Round face, Depressed nasal br...	ORPHA:2062
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad...	OMIM:610475
Arthrogryposis, Distal, Type 2B1	Camptodactyly of finger, Distal arthrogryposis, Mandibular prognathia, Wide nasal bridge, Short s...	OMIM:601680
Pituitary Carcinoma	Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti...	ORPHA:300385
Cutis Laxa, Autosomal Dominant 3	Delayed cranial suture closure, Hip dislocation, Triangular face, Osteopenia, Microcephaly, Intra...	OMIM:616603
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurr...	OMIM:259420
Marshall-Smith Syndrome	Retrognathia, Increased susceptibility to fractures, Ventriculomegaly, Choanal atresia, Short nos...	ORPHA:561
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Wide nose, Flat face, Abnormal bone ossification, Coarse facial features, Eunuchoid habitus, Join...	ORPHA:2463
Genitourinary And/Or Brain Malformation Syndrome	Urogenital sinus anomaly, Flat face, Aplasia of the nasal bone, Streak ovary, Colpocephaly, Micro...	OMIM:618820
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Secondary amenorrhea, Oligomenorrhea, Maternal diabetes, Diabetes mellitus, Polycy...	ORPHA:79083
Cutis Laxa, Autosomal Recessive, Type Iib	Narrow nasal ridge, Hydrocephalus, Triangular face, Joint hypermobility, Failure to thrive, Conge...	OMIM:612940
Glutamine Deficiency, Congenital	Flexion contracture, Wide nasal bridge, Hypoglutaminemia, Lateral ventricle dilatation, Camptodac...	OMIM:610015
Leukodystrophy, Hypomyelinating, 10	Spasticity, Inability to walk, Short nose, Triangular face, Failure to thrive, Secondary microcep...	OMIM:616420
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Hypercholesterolemia, Poor fine motor coordination, Precocious puberty, Short stature,...	ORPHA:96184
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Flat face, Hydrocele testis, Anteverted nares	OMIM:618154
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Genu recurvatum, Premature closure of fontanelles	ORPHA:221054
Blepharocheilodontic Syndrome 1	Flat face, Choanal atresia	OMIM:119580
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Gait ataxia, Spasticity, Mandibular prognathia, Spastic gait, Micrognathia, Short nose, Delayed p...	ORPHA:496790
Baraitser-Winter Syndrome 1	Retrognathia, Ventriculomegaly, Wide nasal bridge, Short stature, Short nose, Failure to thrive, ...	OMIM:243310
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia, Microretrognathia, Short nose, Hypertonia	ORPHA:1389
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Spastic tetraparesis, Delayed eruption of permanent teeth, Microcephaly, Anteverted n...	OMIM:618506
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cran...	ORPHA:163649
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flat face, Flexion contracture, Ventriculomegaly, Wide nasal bridge, Lateral ventricle dilatation...	OMIM:619479
Ring Chromosome 8 Syndrome	Anteverted nares, Short nose	ORPHA:1450
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures, Wormian bones	ORPHA:2773
Autosomal Dominant Omodysplasia	Ambiguous genitalia, Patellar dislocation, Rhizomelia, Bifid scrotum, Micrognathia, Hypoplasia of...	ORPHA:93328
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Short stature, Small for gestational age, Round face, Short nose, Depressed nasal brid...	OMIM:613320
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Congenital Rubella Syndrome	Anemia, Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly	ORPHA:290
Greig Cephalopolysyndactyly Syndrome	Delayed cranial suture closure, Ventriculomegaly, Joint contracture of the hand, Wide nasal bridg...	OMIM:175700
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormality of the elbow, Short stature, Hydrocephalus, Short nose, Anteverted nares, Cryptorchid...	ORPHA:2701
Camptodactyly Syndrome, Guadalajara Type 3	Retrognathia, Flat face, Facial asymmetry, Thickened cortex of long bones, Broad columella, Wide ...	ORPHA:488434
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Delayed cranial suture closure, Mandibular prognathia, Abnormality of the wrist, Severe short sta...	ORPHA:2511
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Delayed puberty, Microcephaly, Short nose	ORPHA:2598
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Pallister-Hall-Like Syndrome	Short stature, Anterior hypopituitarism, Micrognathia, Hydrocephalus, Hip dislocation, Short nose...	OMIM:241800
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Delayed eruption of teeth, Congenital hip dislocation, Growth delay, B...	OMIM:614450
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Retrognathia, Vertebral fusion, Flat face, Wide anterior fontanel...	OMIM:268310
Ruijs-Aalfs Syndrome	Decreased body weight, Hypogonadism, Short stature, Micrognathia, Elbow flexion contracture, Tria...	OMIM:616200
Panhypophysitis	Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level...	ORPHA:95513
Craniofacial-Deafness-Hand Syndrome	Flat face, Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge	OMIM:122880
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Bowing of limbs due to multiple fractures, Multiple prenatal fractures, Disproportionate short-li...	OMIM:259410
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Spasticity, Mandibular prognathia, Inability to walk, Limb hypertonia, Oculomotor apraxia, Ataxia...	OMIM:618087
Blepharocheilodontic Syndrome 2	Flat face, Facial asymmetry	OMIM:617681
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Convex nasal ridge, Micrognathia, Hypertonia, Postnatal growth retardation, Increased susceptibil...	ORPHA:251028
Ogden Syndrome	Delayed cranial suture closure, Underdeveloped nasal alae, Enlarged naris, Ventriculomegaly, Shuf...	ORPHA:276432
Pycnodysostosis	Delayed cranial suture closure, Convex nasal ridge, Increased bone mineral density, Micrognathia,...	ORPHA:763
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Potocki-Lupski Syndrome	Dental malocclusion, Mandibular prognathia, Short stature, Small for gestational age, Micrognathi...	OMIM:610883
Bainbridge-Ropers Syndrome	Precocious puberty, Wide nasal bridge, Lateral ventricle dilatation, Inability to walk, Micrognat...	OMIM:615485
Tetrasomy 12P	Short stature, Delayed eruption of teeth, Coarse facial features, Cachexia, Short nose, Joint hyp...	ORPHA:884
Brain Malformations With Or Without Urinary Tract Defects	Broad face, Cognitive impairment, Ventriculomegaly, Short nose, Failure to thrive, Anteverted nar...	OMIM:613735
Three M Syndrome 3	Decreased body weight, Short stature, Small for gestational age, Prominent nasal tip, Triangular ...	OMIM:614205
Al Kaissi Syndrome	Decreased body weight, Wide nasal bridge, Short stature, Torticollis, Triangular face, Depressed ...	OMIM:617694
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Hydrocephalus, Short nose, Depressed nasal bridge, Anteverted nares, Intrau...	ORPHA:1914
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol...	ORPHA:79644
Spondyloepiphyseal Dysplasia Congenita	Flat face, Limited elbow movement, Delayed calcaneal ossification, Hip dislocation, Limited hip m...	OMIM:183900
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Limited elbow movement, Generalized joint laxity, Abnormal facial shape, Triangular...	ORPHA:319171
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Contractures of the large joints, External genital hypoplasia, Micrognathia,...	ORPHA:329178
Gaucher Disease, Perinatal Lethal	Retrognathia, Decreased body weight, Ventriculomegaly, Akinesia, Micrognathia, Intrauterine growt...	OMIM:608013
Xq12-Q13.3 Duplication Syndrome	Ventriculomegaly, Short stature, Triangular face, Elevated circulating creatine kinase concentrat...	ORPHA:314389
14Q11.2 Microdeletion Syndrome	Micrognathia, Depressed nasal bridge, Short nose	ORPHA:261120
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hyperextensibility at wrists, Flexion contracture, Spasticity, Finger joint hypermobility, Abnorm...	ORPHA:544503
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Thin bony cortex, Delayed closure of the anterior fontanelle, Delayed ...	OMIM:259600
Monosomy 22	Retrognathia, Wide nose, Flat face, Contractures of the large joints, Prominent nasolabial fold, ...	ORPHA:96123
Absent Eyebrows And Eyelashes With Mental Retardation	Progressive spastic quadriplegia, Convex nasal ridge, Microcephaly, Short nose	OMIM:200130
Silver-Russell Syndrome 1	Delayed cranial suture closure, Decreased response to growth hormone stimulation test, Small for ...	OMIM:180860
Congenital Disorder Of Glycosylation, Type Iu	Micrognathia, Elevated circulating creatine kinase concentration, Short nose, Secondary microceph...	OMIM:615042
Marbach-Rustad Progeroid Syndrome	Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Short stature, Micrognat...	OMIM:619322
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Flexion contracture, Acroosteolysis of distal phalanges (feet), N...	OMIM:608612
Silver-Russell Syndrome 2	Delayed closure of the anterior fontanelle, Short stature, Micrognathia, Triangular face, Intraut...	OMIM:618905
Ohdo Syndrome	Small scrotum, Wide nasal bridge, Short stature, Micrognathia, Joint laxity, Short nose, Depresse...	OMIM:249620
Norrie Disease	Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac...	OMIM:310600
Silver-Russell Syndrome	Delayed cranial suture closure, Precocious puberty, Short stature, Decreased testicular size, Mic...	ORPHA:813
Desmosterolosis	Retrognathia, Ambiguous genitalia, Spasticity, Ventriculomegaly, Rigidity, Increased bone mineral...	ORPHA:35107
Hennekam Syndrome	Camptodactyly of finger, Retrognathia, Flat face, Wide nasal bridge, Delayed eruption of teeth, A...	ORPHA:2136
Nicolaides-Baraitser Syndrome	Joint dislocation, Abnormal testis morphology, Triangular face, Severe short stature, Narrow nasa...	ORPHA:3051
Partington Syndrome	Flexion contracture, Camptodactyly, Lower limb spasticity, Triangular face	OMIM:309510
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Flat face, Shawl scrotum, Camptodactyly, Short nose, Depressed nasal bridge, Growth delay, Crypto...	OMIM:601353
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Disproportionate short-limb short stature, Osteoarthritis, Delayed epiphyseal ossific...	OMIM:618618
Mosaic Variegated Aneuploidy Syndrome 2	Decreased response to growth hormone stimulation test, Rhizomelia, Short stature, Small for gesta...	OMIM:614114
Microcephaly-Capillary Malformation Syndrome	Wide nose, Short stature, Small for gestational age, Myoclonus, Short nose, Hypoplasia of the max...	OMIM:614261
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Campomelic Dysplasia	Micrognathia, Hip dislocation, Dislocated radial head, Absent sternal ossification, Delayed epiph...	OMIM:114290
Chopra-Amiel-Gordon Syndrome	Short stature, Triangular face, Joint hypermobility, Microcephaly, Flared nostrils, Thick nasal a...	OMIM:619504
Primary Lipodystrophy	Type II diabetes mellitus, Polycystic ovaries, Hyperlipidemia, Menometrorrhagia, Pancreatitis	ORPHA:90970
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Coarse facial features, Micrognathia, Short nose, Delayed eruption of permane...	OMIM:619356
Teebi Hypertelorism Syndrome 1	Sagittal craniosynostosis, Wide nasal bridge, Natal tooth, Coronal craniosynostosis, Micrognathia...	OMIM:145420
Menke-Hennekam Syndrome 2	Flat face, Micrognathia, Joint hypermobility, Narrow nasal bridge, Depressed nasal bridge, Recurr...	OMIM:618333
Skin Creases, Congenital Symmetric Circumferential, 1	Flat face, Micrognathia, Depressed nasal bridge, Microcephaly, Hypoplastic nipples, Dandy-Walker ...	OMIM:156610
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Wide nasal bridge, Delayed eruption of ...	OMIM:277440
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Inability to walk, Micrognathia, Short nose, Depressed nasal bridge, Progressive mic...	OMIM:617802
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Tracheobronchomalacia, Long nose, Triangular face, Joint hypermobility, Hyposp...	OMIM:619184
Nabais Sa-De Vries Syndrome, Type 2	Chorea, Prominent nose, Prominent nasal bridge, Micrognathia, Hemiparesis, Triangular face, Depre...	OMIM:618829
Mccune-Albright Syndrome	Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir...	OMIM:174800
Adenylosuccinase Deficiency	Gait ataxia, Spasticity, Inability to walk, Myoclonus, Hemiplegia, Short nose, Microcephaly, Ante...	OMIM:103050
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Generalized bone demineralization, Penile hypospadias, Abnormal bone ossification, Ventriculomega...	ORPHA:73230
Fetal Alcohol Syndrome	Cognitive impairment, Short stature, Micrognathia, Short nose, Narrow face, Microcephaly, Antever...	ORPHA:1915
Linear Skin Defects With Multiple Congenital Anomalies 2	Abnormal facial shape, Microcephaly, Short stature, Short nose	OMIM:300887
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Diabetes mellitus, Vaginal atr...	OMIM:209900
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Ppoma	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	ORPHA:97278
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure, Anterior pituitary hypoplasia, Short stature, Hypopituitarism, Re...	OMIM:613038
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Round face, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract i...	OMIM:614069
Acrodysostosis	Mandibular prognathia, Abnormality of female external genitalia, Depressed nasal ridge, Wide nasa...	ORPHA:950
Vipoma	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	ORPHA:97282
Clark-Baraitser Syndrome	Short nose, Depressed nasal bridge, Microcephaly, Anteverted nares, Low hanging columella, Obesity	OMIM:617752
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Short stature, Increased b...	OMIM:614856
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Short stature, Abnormal facial shape, Gait disturbance, Triangular face, Long face, Microcephaly,...	ORPHA:85329
Sponastrime Dysplasia	Hip subluxation, Aplasia of the nasal bone, Precocious puberty, Ivory epiphyses of the phalanges ...	ORPHA:93357
12Q14 Microdeletion Syndrome	Wide nose, Abnormal nostril morphology, Short stature, Micrognathia, Osteopoikilosis, Triangular ...	ORPHA:94063
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Spasticity, Decreased body weight, Wide nasal bridge, Short stature, Mi...	OMIM:300749
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Ventriculomegaly, Micrognathia, Hydrocephalus, Short nose, Thick nasal alae, Dandy-...	ORPHA:163961
Melanocytic Nevus Syndrome, Congenital	Narrow nasal ridge, Prominence of the premaxilla, Round face, Short nose, Broad nasal tip, Anteve...	OMIM:137550
Verheij Syndrome	Vertebral fusion, Wide nasal bridge, Short stature, Hip dislocation, Short nose, Microcephaly, Gr...	OMIM:615583
Mandibuloacral Dysplasia With Type A Lipodystrophy	Delayed cranial suture closure, Hypercholesterolemia, Flexion contracture, Convex nasal ridge, Ac...	OMIM:248370
Orofaciodigital Syndrome Type 10	Retrognathia, Flat face, Micrognathia, Metatarsal synostosis, Depressed nasal bridge, Tarsal syno...	ORPHA:2756
Isolated Optic Nerve Hypoplasia/Aplasia	Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:137902
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Short nose, De...	ORPHA:166272
Ayme-Gripp Syndrome	Delayed cranial suture closure, Flat face, Mandibular prognathia, Wide nasal bridge, Craniofacial...	OMIM:601088
Teebi Hypertelorism Syndrome 2	Wide anterior fontanel, Delayed eruption of teeth, Short nose, Depressed nasal bridge, Hypospadia...	OMIM:619736
Microphthalmia With Limb Anomalies	Retrognathia, Capitate-hamate fusion, Hip dislocation, Metatarsal synostosis, Short nose, 4-5 met...	OMIM:206920
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Spasticity, Anterior pituitary hypoplasia, Elevated circulating thyroid-stimulat...	OMIM:613457
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Genu valgum, Convex nasal ridge, Short stature, Micrognathia, Synostosis...	ORPHA:2496
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Corneal opacity	ORPHA:281090
Schinzel-Giedion Midface Retraction Syndrome	Ventriculomegaly, Hypoplastic labia majora, Thickened cortex of long bones, Sclerosis of skull ba...	OMIM:269150
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Recurrent fractures, Short stature, Coronal craniosynostosis, Microgna...	OMIM:112240
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Prominent nose, Rhizomelia, Small for gestational age, Clitoral hypoplasia...	OMIM:614813
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Wide anterior fontanel, Lateral ventricle dilatation, Abnormal facial shape, Facial asymmetry, At...	ORPHA:457279
Ring Chromosome 7 Syndrome	Flat face, Mandibular prognathia, Genu valgum, Ventriculomegaly, Wide nasal bridge, Narrow naris,...	ORPHA:1449
Bruck Syndrome	Recurrent fractures, Short stature, Pterygium, Arthrogryposis multiplex congenita, Triangular fac...	ORPHA:2771
Johanson-Blizzard Syndrome	Underdeveloped nasal alae, Abnormal nostril morphology, Short stature, Delayed eruption of teeth,...	ORPHA:2315
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ankle clonus, Large for gestational age, Ataxia, Short nose, Babinski sign, Depressed nasal bridg...	OMIM:615398
Cutis Laxa, Autosomal Recessive, Type Iiib	Underdeveloped nasal alae, Flexion contracture, Narrow nasal ridge, Elbow flexion contracture, Hi...	OMIM:614438
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the knee, Abnormal cortical bone morphology, Osteolysis, Abno...	ORPHA:970
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Contractures of the large joints, Cognitive impairment, Ventriculom...	OMIM:617527
Grfoma	Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre...	ORPHA:97261
Intellectual Developmental Disorder, X-Linked 21	Short nose, Mandibular prognathia, Macroorchidism, Joint hypermobility	OMIM:300143
X-Linked Intellectual Disability, Cantagrel Type	Shawl scrotum, Tetraparesis, Ventriculomegaly, Short nose	ORPHA:85277
Micro Syndrome	Spasticity, Wide nasal bridge, Short stature, Micrognathia, Hypoplastic labia minora, Hypoplasia ...	ORPHA:2510
Leopard Syndrome 1	Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty, Hypospadias, Cryptorchidism, Micr...	OMIM:151100
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Underdeveloped nasal alae, Genu valgum, Flexion contracture, Mandibular prognathia, Decreased res...	OMIM:616007
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Dentinogenesis...	OMIM:604922
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Flat face, Flexion contracture, Advanced ossification of carpal bones, Decreased...	OMIM:271640
Osteoporosis-Pseudoglioma Syndrome	Increased susceptibility to fractures, Isosexual precocious puberty, Short stature, Joint laxity,...	ORPHA:2788
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmatism	OMIM:152950
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Genu varum, Mandibular prognathia, Convex nasal ridge, Facial asymmetry, Triangular face, Hypopla...	ORPHA:1110
Oculocerebral Hypopigmentation Syndrome, Cross Type	Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Short stature, Abnormality of extrapyra...	ORPHA:2719
Somatostatinoma	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	ORPHA:97283
Larsen Syndrome	Vertebral fusion, Flat face, Accessory carpal bones, Short stature, Hip dislocation, Joint laxity...	OMIM:150250
Fetal Trimethadione Syndrome	Ambiguous genitalia, Micrognathia, Short nose, Depressed nasal bridge, Hypospadias, Microcephaly,...	ORPHA:1913
Mulchandani-Bhoj-Conlin Syndrome	Retrognathia, Triangular face, Failure to thrive, Severe short stature, Intrauterine growth retar...	OMIM:617352
Meier-Gorlin Syndrome 5	Patellar aplasia, Birth length less than 3rd percentile, Short stature, Micrognathia, Intrauterin...	OMIM:613805
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Convex nasal ridge, Decreased response to growth hormone stimulation test, Ven...	OMIM:241410
Sialidosis Type 2	Splenomegaly, Corneal opacity	ORPHA:87876
Chondrodysplasia Punctata, Autosomal Dominant	Knee flexion contracture, Hip contracture, Epiphyseal stippling, Moderate postnatal growth retard...	OMIM:118650
Thymic Neuroendocrine Tumor	Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ...	ORPHA:97289
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Spasticity, Poor coordination, Ataxia, Short nose, Depressed nasal bridge, Long face, Bulbous nos...	OMIM:618430
Donohue Syndrome	Hyperinsulinemia, Precocious puberty, Long penis, Severe failure to thrive, Pancreatic islet-cell...	OMIM:246200
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93476
Phosphoribosylpyrophosphate Synthetase Superactivity	Convex nasal ridge, Hyperuricemia, Short stature, Small for gestational age, Ataxia, Triangular f...	OMIM:300661
Meier-Gorlin Syndrome 3	Micrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Birth length less t...	OMIM:613803
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Carney Complex	Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian...	ORPHA:1359
Acrodysostosis With Multiple Hormone Resistance	Hyperphosphatemia, Mandibular prognathia, Decreased response to growth hormone stimulation test, ...	ORPHA:280651
Coffin-Siris Syndrome 6	Retrognathia, Short stature, Coarse facial features, Abnormal facial shape, Micrognathia, Depress...	OMIM:617808
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Ambiguous genitalia, Tetraplegia, Ventriculomegaly, Short stature, Bifid scrotum, Smal...	OMIM:257300
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Multip...	OMIM:259440
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Rhizomelia, Short stature, Hydrocephalus, Short nose, Decreased skull ossi...	OMIM:300863
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,...	OMIM:221900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Azotemia, Hypoplasia of the ovary, Abdominal obesity, Micropenis	OMIM:619321
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Hypoplasia of penis, Limitation of joint mobility, Short nose	ORPHA:2547
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Holoprosencephaly 7	Broad face, Flat face, Wide nasal bridge, Hypoplasia of the premaxilla, Absent nasal septal carti...	OMIM:610828
Bartsocas-Papas Syndrome 2	Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium	OMIM:619339
Donnai-Barrow Syndrome	Wide anterior fontanel, Bicornuate uterus, Short nose, Abnormality of the uterus, Depressed nasal...	ORPHA:2143
Skin Creases, Congenital Symmetric Circumferential, 2	Flat face, Ventriculomegaly, Wide nasal bridge, Short stature, Micrognathia, Depressed nasal brid...	OMIM:616734
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Joint laxity, Short nose, Dislocated radial head, Cryptorchidism, Limited elbo...	ORPHA:401935
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Acroosteolysis of distal phalanges (feet), Short stature, Calcinosis, Microgn...	ORPHA:90154
Femoral-Facial Syndrome	Ventriculomegaly, Short stature, Micrognathia, Radioulnar synostosis, Long penis, Short nose, Cry...	ORPHA:1988
Sanjad-Sakati Syndrome	Hyperphosphatemia, Convex nasal ridge, Ventriculomegaly, Short stature, Micrognathia, Patchy oste...	ORPHA:2323
Lethal Kniest-Like Dysplasia	Flat face, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Severe short-limb dwarfism	ORPHA:2347
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Genu valgum, Abnormal nostril morphology, Bifid scrotum, Hypoplasia of penis, Short nose, Hypogon...	ORPHA:1295
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Underdeveloped nasal alae, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:615866
Intellectual Developmental Disorder With Neuropsychiatric Features	Depressed nasal bridge, Triangular face	OMIM:617532
Tetrasomy 18P	Microcephaly, Gait disturbance, Facial asymmetry, Short nose	ORPHA:3307
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Flat face, Wide anterior fontanel, Wide nasal bridge, Delayed eruption of teeth, Rh...	OMIM:180700
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Round face, Ataxia, Triangular face, Depressed nasal bridge, Cryptorchidism, Bulbous nose	OMIM:616789
Pfeiffer Syndrome	Choanal stenosis, Mandibular prognathia, Humeroradial synostosis, Coronal craniosynostosis, Elbow...	OMIM:101600
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Non-Acquired Panhypopituitarism	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ...	ORPHA:90695
Congenital Disorder Of Glycosylation, Type Il	Abnormal facial shape, Hip dislocation, Short nose, Failure to thrive, Depressed nasal bridge, Mi...	OMIM:608776
Non-Distal Trisomy 13Q	Cognitive impairment, Micrognathia, Short nose, Microcephaly, Cryptorchidism	ORPHA:1702
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Joint hyperflexibility, Osteoarthritis, Short nose	ORPHA:90653
Fetal Hydantoin Syndrome	Depressed nasal ridge, Short stature, Bifid scrotum, Short nose, Microcephaly, Cryptorchidism, Ab...	ORPHA:1912
Arthrogryposis, Distal, Type 2B3	Camptodactyly, Short stature, Triangular face	OMIM:618436
C Syndrome	Wide nasal bridge, Short stature, Micrognathia, Hip dislocation, Short nose, Dislocated radial he...	OMIM:211750
Peroxisome Biogenesis Disorder 13A (Zellweger)	Delayed closure of the anterior fontanelle, Wide nasal bridge, Micrognathia, Increased circulatin...	OMIM:614887
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Trisomy 10P	Retrognathia, Absent gallbladder, Primary microcephaly, Small for gestational age, Abnormal facia...	ORPHA:171929
Intellectual Developmental Disorder, X-Linked 98	Underdeveloped nasal alae, Mandibular prognathia, Round face, Ataxia, Short nose, Failure to thri...	OMIM:300912
Warburg Micro Syndrome 2	Small scrotum, Flexion contracture, Spastic diplegia, Hypoplastic labia majora, Short nose, Secon...	OMIM:614225
Yuan-Harel-Lupski Syndrome	Gait ataxia, Wide nose, Talipes valgus, Joint laxity, Triangular face, Failure to thrive, Unstead...	OMIM:616652
Alpha-Mannosidosis	Splenomegaly, Cataract, Corneal opacity	ORPHA:61
Sotos Syndrome	Genu valgum, Mandibular prognathia, Enlarged naris, Ventriculomegaly, Advanced eruption of teeth,...	OMIM:117550
Kyphomelic Dysplasia	Flat face, Micrognathia, Flat acetabular roof, Pterygium, Limitation of joint mobility, Dispropor...	OMIM:211350
Branchioskeletogenital Syndrome	Flat face, Mandibular prognathia, Absent nipple, Absent external genitalia, Hypoplasia of the max...	ORPHA:1299
Idiopathic Congenital Hypothyroidism	Delayed cranial suture closure, Elevated circulating thyroid-stimulating hormone concentration, D...	ORPHA:95717
Antley-Bixler Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Elbow ankylosis, Sh...	ORPHA:83
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, Wide nasal bridge, Short stature, Hip dislocation, Short nose, Failure to thrive, O...	OMIM:618005
Fibrous Dysplasia Of Bone	Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car...	ORPHA:249
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Increased susceptibility to fractures, Vertebral fusion, Flat face, Abnormal bone ossification, G...	ORPHA:93315
Halperin-Birk Syndrome	Flexion contracture, Ventriculomegaly, Inability to walk, Spastic tetraplegia, Micrognathia, Pseu...	OMIM:618651
Sheehan Syndrome	Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level...	ORPHA:91355
Tenorio Syndrome	Delayed cranial suture closure, Wide nose, Mandibular prognathia, Ventriculomegaly, Cerebral pals...	OMIM:616260
Menkes Disease	Short stature, Decreased circulating ceruloplasmin concentration, Joint laxity, Babinski sign, Mi...	OMIM:309400
Chromosome Xq26.3 Duplication Syndrome	Hyperhidrosis, Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism,...	OMIM:300942
Craniodigital-Intellectual Disability Syndrome	Micrognathia, Narrow nasal bridge, Short stature, Short nose	ORPHA:1514
Bartsocas-Papas Syndrome	Underdeveloped nasal alae, Ambiguous genitalia, Micrognathia, Synostosis of joints, Short nose, P...	ORPHA:1234
Mevalonic Aciduria	Underdeveloped nasal alae, Short stature, Ataxia, Triangular face, Elevated circulating creatine ...	OMIM:610377
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus, Microretrognathia, Ataxia, Abnormality of the uterus, Short nose...	ORPHA:59315
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	OMIM:608747
Raine Syndrome	Enamel hypoplasia, Choanal stenosis, Mandibular prognathia, Natal tooth, Short stature, Increased...	OMIM:259775
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Retrognathia, Convex nasal ridge, Aplasia of the nasal bone, Recu...	OMIM:601812
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Micrognathia, Supernumerary nipple, Triangular face, Joint hypermobility, Mic...	OMIM:619243
Mandibuloacral Dysplasia	Delayed cranial suture closure, Contractures of the large joints, Facial shape deformation, Acroo...	ORPHA:2457
Multiple Endocrine Neoplasia, Type I	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	OMIM:131100
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Short nose, Depressed nasal bridge, Microcephaly, Growth delay, Prominent ...	ORPHA:261144
Smith-Kingsmore Syndrome	Wide anterior fontanel, Rhizomelia, Large for gestational age, Short nose, Depressed nasal bridge...	OMIM:616638
Malan Syndrome	Retrognathia, Mandibular prognathia, Ventriculomegaly, Advanced eruption of teeth, Hyperplasia of...	OMIM:614753
Trisomy 18	Camptodactyly of finger, Cognitive impairment, Abnormal morphology of female internal genitalia, ...	ORPHA:3380
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short stature, Short nose, Joint hyperflexibility, Anteverted nares, Cubitus valgus, Genu recurva...	ORPHA:1185
3C Syndrome	Ventriculomegaly, Wide nasal bridge, Short stature, Micrognathia, Hydrocephalus, Hypoplasia of pe...	ORPHA:7
Partington Syndrome	Macroorchidism, Gait disturbance, Lower limb spasticity, Triangular face	ORPHA:94083
Kleefstra Syndrome	Mandibular prognathia, Ventriculomegaly, Short stature, Delayed eruption of teeth, Coarse facial ...	ORPHA:261494
16P12.1P12.3 Triplication Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Coarse facial features, Bila...	ORPHA:485405
Lymphangiectasia, Pulmonary, Congenital	Mild postnatal growth retardation, Flat face, Depressed nasal bridge, Wide nasal bridge	OMIM:265300
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Flat face, Convex nasal ridge, Short stature, Coronal craniosynos...	OMIM:101400
Joubert Syndrome 27	Gait ataxia, Oculomotor apraxia, Ataxia, Triangular face	OMIM:617120
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Depressed nasal ridge, Delayed vertebral ossifi...	OMIM:608022
Hennekam-Beemer Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Wide nose, Ventriculomegaly, Wide nasal ...	ORPHA:2135
Three M Syndrome 2	Dental malocclusion, Short stature, Delayed eruption of teeth, Small for gestational age, Promine...	OMIM:612921
Scheie Syndrome	Corneal opacity	OMIM:607016
Baraitser-Winter Cerebrofrontofacial Syndrome	Delayed cranial suture closure, Retrognathia, Wide nose, Prominent nose, Wide nasal bridge, Coars...	ORPHA:2995
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating lipid concentration, Increased serum testosterone level, E...	ORPHA:2298
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Triangular face	OMIM:618435
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Lateral ventricle dilatation, Short nose, Depressed nasal bridge, Microce...	OMIM:614105
Glucagonoma	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	ORPHA:97280
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Spasticity, Ventriculomegaly, Wide nasal bridge, Limb hypertonia, Bulb...	OMIM:615803
Pituitary Adenoma 2, Growth Hormone-Secreting	Elevated circulating growth hormone concentration, Pituitary adenoma	OMIM:300943
Silver-Russell Syndrome Due To A Point Mutation	Abnormality of the scrotum, Bifid scrotum, Small for gestational age, Micrognathia, Microphallus,...	ORPHA:397590
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Short Syndrome	Underdeveloped nasal alae, Dental malocclusion, Wide nasal bridge, Delayed eruption of teeth, Sma...	OMIM:269880
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Micrognathia, Hydrocele testis, Short nose, Aplasia of the ...	OMIM:266810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Microcephaly 26, Primary, Autosomal Dominant	Ventriculomegaly, Wide nasal bridge, Short stature, Short nose, Spastic tetraparesis, Failure to ...	OMIM:619179
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Sex reversal	OMIM:613743
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Wide nasal bridge, Micrognathia, Facial asymmetry, Short nose, Depressed nasal brid...	OMIM:617061
Schimke Immunoosseous Dysplasia	Elevated circulating thyroid-stimulating hormone concentration, Wide nasal bridge, Small for gest...	OMIM:242900
Ruvalcaba Syndrome	Convex nasal ridge, Abnormality of the elbow, Synostosis of carpal bones, Short nose, Delayed pub...	ORPHA:3121
Zollinger-Ellison Syndrome	Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased glucagon le...	ORPHA:913
Meier-Gorlin Syndrome 6	Underdeveloped nasal alae, Tracheobronchomalacia, Decreased response to growth hormone stimulatio...	OMIM:616835
Mucopolysaccharidosis Type 7	Coarse facial features, Joint stiffness, Epiphyseal stippling, Flat face	ORPHA:584
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Micrognathia, Oculomotor apraxia, Hydrocephalus, Camptodactyly, Short nose, Dep...	OMIM:617822
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Micrognathia, Flat face	ORPHA:2001
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hyperphosphatemia, Wide nasal bridge, Short nose, Broad nasal tip, Microcephaly	OMIM:614207
Pycnodysostosis	Prominent nose, Delayed eruption of primary teeth, Short stature, Increased bone mineral density,...	OMIM:265800
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Hypertonia, Obesity, Anteverted nares, Short nose	OMIM:619854
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Decreased body weight, Wide nasal bridge, Short stature, Micrognathia, Abnormal fac...	OMIM:270450
Craniosynostosis 6	Delayed cranial suture closure, Lateral ventricle dilatation, Right unilambdoid synostosis, Micro...	OMIM:616602
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Increased susceptibility to fractures, Premature thelarche, Sclerotic cranial sutures, Arthropath...	ORPHA:371428
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Wide nasal bridge, Gait disturbance, Joint laxity, Supernumerary nipple, Triangular...	OMIM:620098
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros...	ORPHA:137596
Kaufman Oculocerebrofacial Syndrome	Ventriculomegaly, Short stature, Micrognathia, Hypoplastic labia majora, Short nose, Failure to t...	OMIM:244450
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism	OMIM:270200
Osteogenesis Imperfecta, Type Ii	Convex nasal ridge, Recurrent fractures, Small for gestational age, Multiple prenatal fractures, ...	OMIM:166210
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Contractures of the large joints, Ventriculomegaly, Hyperextensibil...	ORPHA:521426
Developmental And Epileptic Encephalopathy 75	Spasticity, Wide nasal bridge, Babinski sign, Short nose, Secondary microcephaly, Anteverted nares	OMIM:618437
Temtamy Preaxial Brachydactyly Syndrome	Proximal symphalangism of hands, Talon cusp, Synostosis of carpals/tarsals, Short stature, Abnorm...	ORPHA:363417
Hypomandibular Faciocranial Dysostosis	Choanal stenosis, Cognitive impairment, Short nose, Maxillozygomatic hypoplasia, Anteverted nares...	ORPHA:1790
Brachytelephalangic Chondrodysplasia Punctata	Epiphyseal stippling of toe phalanges, Nasal congestion, Stippling of the epiphyses of the distal...	ORPHA:79345
Short Syndrome	Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o...	ORPHA:3163
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Eruption failure, Primary microcephaly, Micrognathia, Facial asymmetry, Short nose, ...	ORPHA:476126
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Prominent nose, Wide nasal bridge, Short nose, Triangular face, Depressed nasal bridge, Hypospadi...	OMIM:618316
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Flexion contracture, Interphalangeal thumb joint contracture, Short nose, Bulbous nose, Prominent...	OMIM:613870
Transaldolase Deficiency	Wide anterior fontanel, Small for gestational age, Triangular face, Failure to thrive, Depressed ...	OMIM:606003
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Flexion contracture, Short stature, Coarse facial features, Ataxia, Babinski sign, Depressed nasa...	OMIM:300232
Disorder Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Hypogonadism, Hypoplasia of penis, Short nose, Small scrotum, Reduced bone mineral d...	ORPHA:2983
Trisomy 20P	Camptodactyly of finger, Macroorchidism, Cognitive impairment, Abnormal facial shape, Micrognathi...	ORPHA:261318
Short-Rib Thoracic Dysplasia 12	Ambiguous genitalia, Flat face, Natal tooth, Hydrocephalus, Hypoplastic nipples, Neonatal death, ...	OMIM:269860
Congenital Heart Defects And Skeletal Malformations Syndrome	Narrow maxilla, Short stature, Camptodactyly, Joint hypermobility, Short nose, Failure to thrive,...	OMIM:617602
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Short stature, Micrognathia, Hypokalemia, Facial asymmetry, Joint laxity, Tria...	OMIM:170390
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Mandibular prognathia, Prominent nose, Depressed nasal ridge, Short stature, Microg...	OMIM:156200
X-Linked Mandibulofacial Dysostosis	Short stature, Micrognathia, Facial asymmetry, Triangular face, Microcephaly, Cryptorchidism, Hyp...	ORPHA:1131
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Enamel hypoplasia, Spasticity, Vertebral hyperostosis, Paraparesis, Ta...	OMIM:164200
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Microcornea	ORPHA:2557
Multiple Endocrine Neoplasia Type 1	Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ...	ORPHA:652
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma	OMIM:617100
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Depressed nasal bridge, Short stature, Short nose	ORPHA:2835
Poikiloderma With Neutropenia	Retrognathia, Underdeveloped nasal alae, Short stature, Micrognathia, Joint laxity, Recurrent sin...	OMIM:604173
Arthrogryposis, Distal, Type 5	Congenital finger flexion contractures, Distal arthrogryposis, Limited wrist extension, Short sta...	OMIM:108145
Neurodegeneration With Brain Iron Accumulation 2A	Abnormal pyramidal sign, Spastic tetraplegia, Micrognathia, Ataxia, Short nose, Unsteady gait	OMIM:256600
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Postnatal growth retardation, Limitation of joint m...	OMIM:133540
Camptodactyly Syndrome, Guadalajara, Type Iii	Retrognathia, Flat face, Joint contracture of the hand, Torticollis, Camptodactyly, Micropenis	OMIM:611929
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Short nose, Intrau...	ORPHA:163966
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Supernumerary nipple, Gait di...	ORPHA:1812
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Weight loss, Short stature, Micrognathia, Short nose, Hypospadias, Microcephal...	ORPHA:251071
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Wide nasal bridge, Short stature, Abnormal facial shape, Microgn...	ORPHA:37553
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante...	ORPHA:91350
Cowden Syndrome 5	Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go...	OMIM:615108
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Ventriculomegaly, Wide nasal bridge, Short nose, Broad nasal tip, Mic...	OMIM:614749
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Persistent open anterior fontanelle, Camptodactyly, Joint laxity, Short nose	OMIM:615539
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Wormian bones, Triangular face	OMIM:619638
Nestor-Guillermo Progeria Syndrome	Dental malocclusion, Delayed closure of the anterior fontanelle, Flexion contracture, Convex nasa...	OMIM:614008
Diamond-Blackfan Anemia 8	Short stature, Growth delay, Wide nasal bridge, Short nose	OMIM:612563
Nabais Sa-De Vries Syndrome, Type 1	Primary microcephaly, Short nose, Depressed nasal bridge, Hypertonia, Bulbous nose, Prominent nas...	OMIM:618828
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Cowden Syndrome 6	Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid...	OMIM:615109
Autosomal Dominant Kenny-Caffey Syndrome	Delayed cranial suture closure, Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosclerosis,...	ORPHA:93325
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Ventriculomegaly, Opisthotonus, Coarse facial features, Abnormal facial s...	ORPHA:508533
Toluene Embryopathy	Short stature, Micrognathia, Short nose, Microcephaly, Cryptorchidism, Hypoplasia of the zygomati...	ORPHA:1920
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Hydrocele testis, Micr...	OMIM:613603
Oculodentodigital Dysplasia	Camptodactyly of finger, Underdeveloped nasal alae, Spasticity, Mandibular prognathia, Micrognath...	ORPHA:2710
Menke-Hennekam Syndrome 1	Underdeveloped nasal alae, Flat face, Flexion contracture, Depressed nasal ridge, Micrognathia, J...	OMIM:618332
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Elevated circulating thyroid-stimulating hormone concentration, D...	ORPHA:95716
Distal Monosomy 3P	Spasticity, Cognitive impairment, Ventriculomegaly, Short stature, Micrognathia, Triangular face,...	ORPHA:1620
3Q29 Microdeletion Syndrome	Gait disturbance, Facial asymmetry, Short nose, Failure to thrive, Narrow face, Long face, Hyposp...	ORPHA:65286
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Gait ataxia, Mandibular prognathia, Ventriculomegaly, Abnormal facial shape, Communicating hydroc...	ORPHA:457359
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Short stature, Triangular face, Secondary microcephaly, Long face, Long nose, Bulbo...	OMIM:620113
Microphthalmia, Isolated, With Coloboma 9	Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea	OMIM:615145
Macrocephaly/Autism Syndrome	Joint laxity, Large for gestational age, Short nose, Hydrocele testis, Penile freckling, Depresse...	OMIM:605309
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity, Pancytopenia, Hepatosplenomegaly	ORPHA:309288
Brachydactyly, Type B1	Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th...	OMIM:113000
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Ventriculomegaly, Humeroradial synostosis, Micrognathia, Elbow fl...	OMIM:151050
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Anteverted nares, Short nose	ORPHA:228384
Microlissencephaly-Micromelia Syndrome	Coarse facial features, Short nose, Failure to thrive, Secondary microcephaly, Hypoparathyroidism...	ORPHA:50810
De Barsy Syndrome	Delayed closure of the anterior fontanelle, Generalized joint laxity, Short stature, Delayed erup...	ORPHA:2962
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea	ORPHA:1806
Osteogenesis Imperfecta, Type Xi	Increased susceptibility to fractures, Protrusio acetabuli, Dentinogenesis imperfecta, Short stat...	OMIM:610968
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Flexion contracture, Ventriculomegaly, Spastic diplegia, Short stature, Small for gestational age...	OMIM:309590
Gapo Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Eruption failure, Wid...	OMIM:230740
Osteogenesis Imperfecta	Somatic sensory dysfunction, Flexion contracture, Convex nasal ridge, Noncommunicating hydrocepha...	ORPHA:666
Cleidocranial Dysplasia	Genu valgum, Mandibular prognathia, Recurrent fractures, Short stature, Delayed eruption of teeth...	ORPHA:1452
Marshall-Smith Syndrome	Decreased body weight, Ventriculomegaly, Hypertonia, Choanal atresia, Recurrent fractures, Hydroc...	OMIM:602535
3M Syndrome	Abnormality of the elbow, Short stature, Delayed eruption of teeth, Triangular face, Congenital h...	ORPHA:2616
Paganini-Miozzo Syndrome	Hyperalaninemia, Mandibular prognathia, Lateral ventricle dilatation, Triangular face	OMIM:301025
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, Cl...	ORPHA:90674
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Underdeveloped nasal alae, Short nose, Failure to thrive, Short columella, Microc...	ORPHA:364577
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Mandibular prognathia, Wide anterior fontanel, Natal tooth, Short statur...	OMIM:269300
Peho Syndrome	Retrognathia, Progressive microcephaly, Myoclonus, Short nose	OMIM:260565
Coffin-Siris Syndrome	Delayed eruption of teeth, Coarse facial features, Abnormal facial shape, Intrauterine growth ret...	ORPHA:1465
Au-Kline Syndrome	Retrognathia, Sagittal craniosynostosis, Dental malocclusion, Underdeveloped nasal alae, Ventricu...	OMIM:616580
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur...	ORPHA:881
Jacobsen Syndrome	Spasticity, Flexion contracture, Micrognathia, Annular pancreas, Labial hypoplasia, Hydrocephalus...	OMIM:147791
Molybdenum Cofactor Deficiency, Complementation Group B	Ventriculomegaly, Spastic tetraplegia, Myoclonic spasms, Short nose, Long face, Microcephaly, Hyp...	OMIM:252160
Sialidosis Type 1	Splenomegaly, Cataract, Corneal opacity	ORPHA:812
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Persistent Hyperplastic Primary Vitreous	Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,...	ORPHA:91495
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Spasticity, Hydrocephalus, Short nose, Joint hypermobility, Depressed nasal bridge, Long face, Os...	OMIM:618590
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Ventriculomegaly, Short stature, Short nose, Depressed nasal bridge, Mic...	ORPHA:261236
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Recurrent fractures, Wide nasal bridge, Micrognathia, Joint laxity, Joint hyper...	OMIM:617952
Rodrigues Blindness	Sclerocornea, Microcornea	OMIM:268320
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Dental malocclusion, Foot acroosteolysis, Genu v...	OMIM:102500
Meckel Syndrome, Type 8	Ambiguous genitalia, Microcephaly, Depressed nasal ridge, Short nose	OMIM:613885
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Flat face, Short stature, Delayed eruption of teeth, Micrognathia, Joint hypermobility, Depressed...	OMIM:300990
Miller-Dieker Lissencephaly Syndrome	Progressive spastic paraplegia, Joint contracture of the hand, Delayed eruption of teeth, Wide na...	OMIM:247200
Osteoglophonic Dysplasia	Increased susceptibility to fractures, Eruption failure, Mandibular prognathia, Rhizomelia, Short...	OMIM:166250
Baller-Gerold Syndrome	Abnormal carpal morphology, Short stature, Prominent nasal bridge, Micrognathia, Short nose, Narr...	ORPHA:1225
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Ventriculomegaly, Wide nasal bridge, Large fontanelles, Hypertonia, Depres...	OMIM:619475
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short stature, Carpal bone hypoplasia, Short nose, Depressed nasal bridge, Osteopenia, Microcepha...	OMIM:616723
Ohdo Syndrome, X-Linked	Decreased body weight, Prominent nose, Wide nasal bridge, Shawl scrotum, Coarse facial features, ...	OMIM:300895
Bruck Syndrome 2	Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Short statu...	OMIM:609220
Isolated Arrhinia	Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ...	ORPHA:1134
Even-Plus Syndrome	Bifid nasal tip, Severe short stature, Depressed nasal ridge, Short nose	OMIM:616854
Cardiofaciocutaneous Syndrome 1	Dental malocclusion, Hyperextensibility of the finger joints, Short stature, Coarse facial featur...	OMIM:115150
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Congenital finger flexion contractures, Joint stiffness, Triangular face	ORPHA:1154
Fanconi Anemia, Complementation Group I	Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Fuse...	OMIM:609053
Acrofacial Dysostosis, Catania Type	Short stature, Microretrognathia, Short nose, Hypospadias, Hypoplasia of the zygomatic bone, Micr...	ORPHA:1786
Multiple Endocrine Neoplasia, Type Iv	Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum...	OMIM:610755
Osteogenesis Imperfecta, Type Xvi	Recurrent fractures, Rhizomelia, Short stature, Small for gestational age, Microretrognathia, Joi...	OMIM:616229
Opsismodysplasia	Joint stiffness, Short nose, Severe short stature, Depressed nasal bridge, Large fontanelles, Abn...	ORPHA:2746
Weiss-Kruszka Syndrome	Ventriculomegaly, Short nose, Anteverted nares, Prominent metopic ridge, Colpocephaly	OMIM:618619
Hyperparathyroidism, Transient Neonatal	Short nasal bridge, Recurrent fractures, Wide nasal bridge, Ventriculomegaly, Communicating hydro...	OMIM:618188
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Wrinkly Skin Syndrome	Delayed closure of the anterior fontanelle, Generalized joint laxity, Short stature, Delayed erup...	ORPHA:2834
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Wide nasal bridge, Hydrocephalus, Delayed ossification of carpal bones, Sh...	OMIM:239300
Facial Paresis, Hereditary Congenital, 3	Micrognathia, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Sifrim-Hitz-Weiss Syndrome	Ambiguous genitalia, Gait imbalance, Ventriculomegaly, Short stature, Coarse facial features, Fus...	OMIM:617159
Legius Syndrome	Micrognathia, Triangular face	OMIM:611431
Kleefstra Syndrome Due To 9Q34 Microdeletion	Ventriculomegaly, Abnormal testis morphology, Hypoplasia of penis, Short nose, Failure to thrive,...	ORPHA:96147
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Ventriculomegaly, Short stature, Short nose, Hypertonia, Anteverted nares	ORPHA:2031
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short stature, D...	ORPHA:2484
Musculocontractural Ehlers-Danlos Syndrome	Generalized joint laxity, Ventriculomegaly, Prominent nasolabial fold, Microretrognathia, Short n...	ORPHA:2953
Hypotonia, Ataxia, And Delayed Development Syndrome	Gait ataxia, Short stature, Truncal ataxia, Oval face, Ataxia, Triangular face, Broad-based gait,...	OMIM:617330
Pterygium Colli, Isolated	Short nose	OMIM:177990
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventriculomegaly, Short nose, Depressed nasal bridge, Bulbous nose, Choanal atresia	ORPHA:284169
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes...	OMIM:269700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Postnatal growth retardation, Dentinogenesis imperfect...	ORPHA:536467
Lipodystrophy, Congenital Generalized, Type 1	Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty,...	OMIM:608594
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Wide anterior fontanel, Micrognathia, Short nose, Depressed nasal bridge, Hypospadias, Microcepha...	OMIM:217980
Lathosterolosis	Micrognathia, Myoclonus, Hypoplasia of penis, Short nose, Failure to thrive, Microcephaly, Anteve...	ORPHA:46059
Khan-Khan-Katsanis Syndrome	Delayed closure of the anterior fontanelle, Ventriculomegaly, Short stature, Micrognathia, Short ...	OMIM:618460
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Inability to walk, Short stature, Gait disturbance, Microretrognathia, Short n...	OMIM:618571
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short stature, Short nose, Osteopenia, Anteverted nares, Anterior open-bite malocclusion	OMIM:617877
Marfanoid-Progeroid-Lipodystrophy Syndrome	Retrognathia, Narrow nasal ridge, Hyperextensibility of the finger joints, Prominent nasal bridge...	OMIM:616914
Nablus Mask-Like Facial Syndrome	Retrognathia, Joint contracture of the hand, Wide nasal bridge, Labial hypoplasia, Camptodactyly,...	OMIM:608156
Cole-Carpenter Syndrome	Recurrent fractures, Short stature, Delayed eruption of teeth, Micrognathia, Communicating hydroc...	ORPHA:2050
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Talipes valgus, Short stature, Micrognathia, Elbow flexion contracture,...	OMIM:601559
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Premature thelarche, Ventriculomegaly, Breast aplasia, Hypertonia, Osteochondrosis, Shawl scrotum...	ORPHA:268261
20Q13.33 Microdeletion Syndrome	Small for gestational age, Decreased scrotal rugation, Hip dislocation, Triangular face, Hypospad...	ORPHA:261311
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Wide nasal bridge, Shawl scrotum, Short stature, Micrognathia, Intrauterine growth retardation, F...	ORPHA:2282
Dermotrichic Syndrome	Depressed nasal bridge, Proportionate short stature, Short nose	ORPHA:99688
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Vertebral fusion, Shawl scrotum, Camptodactyly, Triangular face, Short nose,...	OMIM:227330
Chops Syndrome	Short stature, Coarse facial features, Round face, Short nose, Microcephaly, Anteverted nares, Cr...	OMIM:616368
Noonan Syndrome 14	Lateral ventricle dilatation, Short stature, Coarse facial features, Prominent nasolabial fold, T...	OMIM:619745
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Micrognathia...	ORPHA:90652
Frontofacionasal Dysplasia	Depressed nasal ridge, Short stature, Short nose, Dimple on nasal tip, Depressed nasal bridge, Bi...	ORPHA:1791
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Delayed cranial suture closure, Micrognathia, Short nose	ORPHA:1129
Microphthalmia With Brain And Digit Anomalies	Iris coloboma, Cataract, Sclerocornea, Microcornea	ORPHA:139471
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Underdeveloped nasal alae, Decreased body weight, Micrognathia, Intrauterine growth retardation, ...	OMIM:619005
Peho Syndrome	Flexion contracture, Ventriculomegaly, Hydrocephalus, Limitation of joint mobility, Short nose, M...	ORPHA:2836
Alg9-Cdg	Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus	ORPHA:79328
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Retrognathia, Finger joint hypermobility, Short stature, Joint laxity, Triangular face, Joint hyp...	OMIM:613563
Bronchial Neuroendocrine Tumor	Increased circulating cortisol level, Weight loss, Increased circulating ACTH level, Increased se...	ORPHA:97287
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Delayed closure of the anterior fontanelle, Precocious puberty, Decreased response to growth horm...	ORPHA:96182
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Short stature, Micrognathia, Short nose, Microcephaly, Anteverted nares, Growth...	ORPHA:1358
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Micrognathia, Myoclonus, Short nose, Depressed nasal bridge, Anteverted nares, Prominent metopic ...	ORPHA:314655
Cerebrooculonasal Syndrome	Ventriculomegaly, Proboscis, Craniosynostosis, Hydrocephalus, Short nose, Anteverted nares, Hypop...	OMIM:605627
Combined Pituitary Hormone Deficiencies, Genetic Forms	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ...	ORPHA:95494
Coffin-Lowry Syndrome	Wide nose, Dental malocclusion, Delayed closure of the anterior fontanelle, Mandibular prognathia...	OMIM:303600
Van Maldergem Syndrome 2	Hip subluxation, Dental malocclusion, Wide anterior fontanel, Wide nasal bridge, Bifid scrotum, M...	OMIM:615546
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Wide nose, Abnormal facial shape, Distal sensory impairment, Joint laxity, Triangular face, Failu...	ORPHA:477817
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Ventriculomegaly, Wide nasal bridge, Microphallus, Short stature, Micrognathia, Su...	OMIM:618454
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Nelson Syndrome	Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a...	ORPHA:199244
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Thrombocytopenia, Leukopenia, Corneal opacity	OMIM:301056
9q subtelomeric deletion syndrome	Microcephaly, Anteverted nares, Short nose	DECIPHER:52
Schimke Immuno-Osseous Dysplasia	Anemia, Lymphopenia, Corneal opacity, Decreased proportion of naive CD8 T cells, Thrombocytopenia...	ORPHA:1830
Molybdenum Cofactor Deficiency, Complementation Group A	Ventriculomegaly, Spastic tetraplegia, Myoclonic spasms, Short nose, Spastic tetraparesis, Long f...	OMIM:252150
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Micrognathia, Osteolysis, ...	ORPHA:955
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Abnormality of the knee, Genu valgum, Increased size of nasopharyngeal adenoids, Short stature, C...	ORPHA:457395
Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93474
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Moon facies, Wide nasal bridge, Broad columella, Thick nasal alae, Spasticity...	OMIM:619950
Prader-Willi Syndrome Due To Translocation	Retrognathia, Anterior pituitary hypoplasia, Prominent nose, Decreased response to growth hormone...	ORPHA:177907
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Micrognathia, Short nose, Hypoplasia of the maxilla, Secondary microcephaly	ORPHA:79113
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le...	OMIM:201750
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Wide nose, Short stature, Primary microcephaly, Micrognathia, Short nose, Elevated ...	OMIM:608779
Nicolaides-Baraitser Syndrome	Gait ataxia, Short stature, Short nose, Triangular face, Failure to thrive, Wide nasal base, Narr...	OMIM:601358
Microform Holoprosencephaly	Ambiguous genitalia, Short stature, Hypoplasia of penis, Panhypopituitarism, Short nose, Midnasal...	ORPHA:280200
Robinow Syndrome, Autosomal Dominant 2	Dental malocclusion, Calvarial osteosclerosis, Short stature, Micrognathia, Camptodactyly, Short ...	OMIM:616331
Ulna Hypoplasia-Intellectual Disability Syndrome	Delayed cranial suture closure, Elbow dislocation, Severe short stature, Large fontanelles, Joint...	ORPHA:2249
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Increased bone mineral density, Large fontanelles, Cranial hypero...	ORPHA:2658
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Mandibular prognathia, Ventriculomegaly, Communicating hydrocephalus, Joint laxity, ...	OMIM:617011
Hallermann-Streiff Syndrome	Underdeveloped nasal alae, Dental malocclusion, Natal tooth, Small for gestational age, Micrognat...	OMIM:234100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Spasticity, Coarse facial features, Micrognathia, Choreoathetosis, Large for gestational age, Hyd...	OMIM:614080
Carney Complex, Type 1	Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ...	OMIM:160980
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Recurrent fractures, Wide anterior fontanel, Joint laxity, Round face,...	OMIM:610915
Schneckenbecken Dysplasia	Advanced ossification of carpal bones, Flat acetabular roof, Short nose, Disproportionate short-l...	OMIM:269250
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Craniosynostosis 2	Supernumerary tooth, Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Craniosynos...	OMIM:604757
Cenani-Lenz Syndrome	Convex nasal ridge, Synostosis of carpal bones, Radioulnar synostosis, Hip dislocation, Synostosi...	ORPHA:3258
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Convex nasal ridge, Blepharospasm, Short stature, Prominent nasal...	ORPHA:794
Ogden Syndrome	Delayed cranial suture closure, Ventriculomegaly, Wide nasal bridge, Micrognathia, Prominent naso...	OMIM:300855
Cardiofaciocutaneous Syndrome	Genu valgum, Short stature, Coarse facial features, Hydrocephalus, Short nose, Depressed nasal br...	ORPHA:1340
White-Sutton Syndrome	Mandibular prognathia, Short stature, Micrognathia, Joint laxity, Failure to thrive, Depressed na...	OMIM:616364
Dubowitz Syndrome	Wide nasal bridge, Delayed eruption of teeth, Short stature, Micrognathia, Facial asymmetry, Tria...	OMIM:223370
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Obtuse angle of mandible, Wide anterior fontanel, Increased bone mineral densit...	ORPHA:85184
Trichorhinophalangeal Syndrome Type 1 And 3	Camptodactyly of finger, Short stature, Micrognathia, Supernumerary tooth, Triangular face, Bulbo...	ORPHA:77258
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Dentinogenesis imperfecta, Bowing of limbs due to multiple...	OMIM:166220
Insensitivity To Pain, Congenital, With Anhidrosis	Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor...	OMIM:256800
Van Maldergem Syndrome 1	Dental malocclusion, Wide anterior fontanel, Wide nasal bridge, Micrognathia, Camptodactyly, Join...	OMIM:601390
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Mandibular prognathia, Recurrent fractures, Hyperextensibi...	OMIM:231070
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93399
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Mandibular prognathia, Shawl scrotum, Short nose, Depressed nasal bridge, Hypospadias...	OMIM:301040
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Hydrocele testis, Congenital adrenal hyperplasia, Triangular face, Intrauterine...	ORPHA:96181
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Hypogonadism, Delayed eruption of teeth, Small for gestational age, Microg...	OMIM:268400
Craniofacioskeletal Syndrome	Absent gallbladder, Short stature, Micrognathia, Triangular face, Hypospadias, Large fontanelles,...	OMIM:300712
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Somatomammotropinoma	Hyperhidrosis, Increased circulating prolactin concentration, Impotence, Anterior hypopituitarism...	ORPHA:314769
Congenital Sialidosis Type 2	Cataract, Corneal opacity, Developmental cataract, Hepatosplenomegaly	ORPHA:93400
Monosomy 9Q22.3	Ventriculomegaly, Delayed eruption of teeth, Hydrocephalus, Large for gestational age, Short nose...	ORPHA:77301
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Prominent nose, Wide nasal bridge, Short stature, Coarse facial features, Triangular face, Microc...	ORPHA:1292
Coloboma, Ocular, Autosomal Dominant	Peters anomaly, Corneal opacity	OMIM:120200
Alazami Syndrome	Wide nose, Postnatal growth retardation, Triangular face	ORPHA:319671
Osteogenesis Imperfecta, Type Xx	Retrognathia, Mandibular prognathia, Multiple prenatal fractures, Disproportionate short-limb sho...	OMIM:618644
Distal Monosomy 15Q	Genu valgum, Generalized joint laxity, Short stature, Small for gestational age, Coarse facial fe...	ORPHA:1596
Distal Monosomy 6P	Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea...	ORPHA:96125
Prolidase Deficiency	Micrognathia, Short nose, Failure to thrive, Depressed nasal bridge, Concave nasal ridge	OMIM:170100
Galactosialidosis	Opacification of the corneal stroma, Conjunctival telangiectasia, Hepatosplenomegaly	OMIM:256540
Dubowitz Syndrome	Delayed cranial suture closure, Abnormality of female external genitalia, Wide anterior fontanel,...	ORPHA:235
Multiple Sulfatase Deficiency	Splenomegaly, Cataract, Corneal opacity	ORPHA:585
Fibrochondrogenesis 2	Micrognathia, Anteverted nares, Short nose	OMIM:614524
Aniridia 1	Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac...	OMIM:106210
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Oculoauricular Syndrome	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se...	OMIM:612109
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Genu valgum, Fle...	OMIM:619127
Pfeiffer Syndrome Type 1	Short nose, Depressed nasal bridge, Aqueductal stenosis, Bicoronal synostosis	ORPHA:93258
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Short stature, Micrognathia, Camptodactyly, Short nose, Broad nasal tip, Antev...	OMIM:618529
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Micrognathia, Choanal atresia, Short nose, Microcephaly, Monorchism, Int...	ORPHA:2753
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Short nose, Microcephaly, Anteverted nares, Growth delay, Hypoplasia of teeth	OMIM:234050
Lessel-Kreienkamp Syndrome	Wide cranial sutures, Dental malocclusion, Wide nasal bridge	OMIM:619149
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu varum, Genu valgum, Mandibular prognathia, Rhizomelia, Delayed ossification of carpal bones,...	OMIM:271510
Autosomal Recessive Faciodigitogenital Syndrome	Short stature, Shawl scrotum, Micrognathia, Short nose, Triangular face, Long face, Joint hyperfl...	ORPHA:1974
Craniosynostosis 4	Retrognathia, Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Ectopic posteri...	OMIM:600775
Fontaine Progeroid Syndrome	Convex nasal ridge, Micrognathia, Hypoplastic labia majora, Absent nipple, Hydrocephalus, Triangu...	OMIM:612289
Cree Mental Retardation Syndrome	Bifid scrotum, Micrognathia, Triangular face, Hypospadias, Large fontanelles, Cryptorchidism	OMIM:606851
Schinzel-Giedion Syndrome	Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Camptodactyly, Hypertonia, Vocal cord ...	ORPHA:798
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Ventriculomegaly, Small for gestational age, ...	ORPHA:363611
Trichothiodystrophy 1, Photosensitive	Retrognathia, Flexion contracture, Hypogonadism, Short stature, Small for gestational age, Short ...	OMIM:601675
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Delayed cranial suture closure, Cognitive imp...	ORPHA:616
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Mandibulofacial Dysostosis, Guion-Almeida Type	Short stature, Micrognathia, Short nose, Progressive microcephaly, Microcephaly, Anteverted nares...	OMIM:610536
Mosaic Variegated Aneuploidy Syndrome	Wide nose, Ambiguous genitalia, Depressed nasal ridge, Ventriculomegaly, Short stature, Micrognat...	ORPHA:1052
Walker-Warburg Syndrome	Iris coloboma, Corneal opacity, Cataract, Microcornea	ORPHA:899
Grant Syndrome	Micrognathia, Wormian bones	OMIM:138930
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma	ORPHA:454840
Donnai-Barrow Syndrome	Wide anterior fontanel, Bicornuate uterus, Short nose, Depressed nasal bridge, Broad nasal tip	OMIM:222448
Zttk Syndrome	Absent gallbladder, Spasticity, Flexion contracture, Ventriculomegaly, Wide nasal bridge, Short s...	OMIM:617140
Pallister-Hall Syndrome	Precocious puberty, Radial head subluxation, Decreased response to growth hormone stimulation tes...	OMIM:146510
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea	ORPHA:284160
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteolytic defects of the phalanges of the hand, Arthropathy, Coarse facial features, Arthritis, ...	OMIM:259100
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Osteogenesis Imperfecta, Type X	Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Rhizomelia, S...	OMIM:613848
Robinow Syndrome	Marked delay in eruption of permanent teeth, Dental malocclusion, Radioulnar dislocation, Short s...	ORPHA:97360
Lateral Meningocele Syndrome	Vertebral fusion, Short nasal bridge, Short stature, Micrognathia, Hydrocephalus, Joint hypermobi...	OMIM:130720
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Micrognathia, Triangular face, Long face, Anteverted nares, Cryptorchidism, Col...	ORPHA:261250
Acromegaly	Wide penis, Hyperhidrosis, Impotence, Anterior hypopituitarism, Long penis, Diabetes mellitus, Pi...	ORPHA:963
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Delayed cranial suture closure, Distal arthrogryposis, Joint dislocation, Generalized joint laxit...	OMIM:601776
D-Bifunctional Protein Deficiency	Delayed cranial suture closure, Retrognathia, Ventriculomegaly, Micrognathia, Increased circulati...	OMIM:261515
Witteveen-Kolk Syndrome	Ventriculomegaly, Wide nasal bridge, Unilateral cryptorchidism, Contracture of the distal interph...	OMIM:613406
Hartsfield Syndrome	Wide nose, Hypoplasia of the frontal bone, Gonadotropin deficiency, Hypospadias, Microcephaly, Gr...	OMIM:615465
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Lateral ventricle dilatation, Short stature, Hydrocephalus, Triangular f...	OMIM:619575
Degcags Syndrome	Ambiguous genitalia, Ventriculomegaly, Micrognathia, Vocal cord paralysis, Genu valgum, Prominent...	OMIM:619488
Lathosterolosis	Bilobate gallbladder, Wide nasal bridge, Abnormal circulating cholesterol concentration, Microgna...	OMIM:607330
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Convex nasal ridge, Flexion contracture, Triangular face, Failure to thriv...	OMIM:609069
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Wide nasal bridge, Lateral ventricle dilatation, Pineal cyst, Genu valgum, Coar...	OMIM:615873
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Spasticity, Spastic diplegia, Short stature, Triangular face, Narrow face, Long face, Microcephal...	ORPHA:93947
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Short stature, Coarse fa...	OMIM:617260
Wilson Disease	Splenomegaly, Thrombocytopenia, Kayser-Fleischer ring, Anemia	ORPHA:905
Van Esch-O'Driscoll Syndrome	Retrognathia, Spasticity, Short stature, Short nose, Depressed nasal bridge, Long face, Unilatera...	OMIM:301030
Nizon-Isidor Syndrome	Triangular face, Depressed nasal bridge, Hypospadias, Anteverted nares, Bulbous nose, Prominent n...	OMIM:618872
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity	OMIM:607015
Oculocerebrocutaneous Syndrome	Iris coloboma, Corneal opacity	ORPHA:1647
15q26 overgrowth syndrome	Camptodactyly of finger, Mandibular prognathia, Prominent nose, Wide nasal bridge, Abnormal facia...	DECIPHER:81
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Abnormal sperm motility	ORPHA:244
Farber Disease	Abnormal conjunctiva morphology, Anemia, Opacification of the corneal stroma, Hepatosplenomegaly,...	ORPHA:333
Atelosteogenesis, Type I	Neonatal death, Rhizomelia, Fused cervical vertebrae, Micrognathia, Elbow dislocation, Short nose...	OMIM:108720
Wiedemann-Rautenstrauch Syndrome	Delayed closure of the anterior fontanelle, Flexion contracture, Convex nasal ridge, Hypoplasia o...	OMIM:264090
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Camptodactyly, Facial asymmetry, Round face, Triangular face, Short nose, Spastic t...	OMIM:301044
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Flexion contracture, Convex nasal ridge, Patellar dislocation, Wi...	OMIM:180849
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Conjunctival hyperemia	ORPHA:2399
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Dental malocclusion, Wide anterior fontanel, Coarse facial featur...	OMIM:249420
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Short stature, Micrognathia, Cachexia, Short nose, Joint hyperflexibility, Anteverted ...	ORPHA:109
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Talipes valgus, Prominent nose, Anterior pituitary hypoplasia, Abnormal facial shape, Bilateral c...	ORPHA:466791
Opsismodysplasia	Rhizomelia, Hypophosphatemia, Flat acetabular roof, Short nose, Depressed nasal bridge, Dispropor...	OMIM:258480
Toriello-Lacassie-Droste Syndrome	Abnormal facial shape, Epispadias, Short nose, Failure to thrive, Hypospadias, Growth delay, Ante...	ORPHA:3339
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Acroosteolysis of distal phalanges (feet), Short stature, Breast aplasia, Li...	ORPHA:90153
Spondylocarpotarsal Synostosis Syndrome	C2-C3 subluxation, Vertebral fusion, Broad face, Enamel hypoplasia, Capitate-hamate fusion, Block...	OMIM:272460
Mohr Syndrome	Short stature, Micrognathia, Hydrocephalus, Hypoplasia of the maxilla, Depressed nasal bridge, Br...	OMIM:252100
Vascular Ehlers-Danlos Syndrome	Flat face, Joint dislocation, Cognitive impairment, Short stature, Hypokalemia, Uterine rupture, ...	ORPHA:286
Cutis Laxa, Autosomal Recessive, Type Iic	Knee flexion contracture, Decreased body weight, Narrow naris, Short stature, Bilateral cryptorch...	OMIM:617402
Lipodystrophy, Familial Partial, Type 7	Gait ataxia, Narrow nasal ridge, Dysdiadochokinesis, Small for gestational age, Triangular face, ...	OMIM:606721
Trisomy 8P	Retrognathia, Metopic suture patent to nasal root, Multiple joint contractures, Aplasia/Hypoplasi...	ORPHA:264450
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Urethral stricture, Imperforate hymen, Triangular face, Short nose, Microcepha...	OMIM:619522
Geleophysic Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Short stature,...	OMIM:231050
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Abnorm...	OMIM:241080
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Limitation of joint mobility, Short nose, Depressed nasal bri...	ORPHA:93259
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose, Epiphyseal stippling, Joint hemorrhage	OMIM:277450
Autosomal Dominant Robinow Syndrome	Camptodactyly of finger, Wide nasal bridge, Micrognathia, Hip dislocation, Hypoplastic labia majo...	ORPHA:3107
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Ventriculomegaly, Flexion contracture of toe, Coarse facial features, Hydrocele testis, Microretr...	ORPHA:280633
Lateral Meningocele Syndrome	Micrognathia, Craniofacial hyperostosis, Narrow face, Joint hyperflexibility, Cryptorchidism, Pro...	ORPHA:2789
Waardenburg Syndrome Type 1	Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Short nose	ORPHA:894
White-Kernohan Syndrome	Retrognathia, Underdeveloped nasal alae, Rectovaginal fistula, Joint laxity, Short nose, Depresse...	OMIM:619426
Acrocallosal Syndrome	Mandibular prognathia, Wide anterior fontanel, Wide nasal bridge, Microretrognathia, Short nose, ...	OMIM:200990
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Chorea, Hemiballismus, Prominent nasal tip, Choreoathetosis, Joint laxity, Ataxia, Short nose, Pr...	ORPHA:522077
Peutz-Jeghers Syndrome	Uterine neoplasm, Ovarian cyst, Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor	OMIM:175200
Kbg Syndrome	Underdeveloped nasal alae, Vertebral fusion, Short stature, Round face, Epispadias, Triangular fa...	OMIM:148050
Wagro Syndrome	Cataract, Corneal opacity, Aniridia	OMIM:612469
Cornelia De Lange Syndrome	Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Hip dislocation, Hypoplastic labia maj...	ORPHA:199
Cystinosis	Corneal opacity	ORPHA:213
Robinow Syndrome, Autosomal Dominant 3	Dental malocclusion, Wide nasal bridge, Short stature, Micrognathia, Camptodactyly, Clitoral hypo...	OMIM:616894
Stromme Syndrome	Microcornea, Iris coloboma, Peters anomaly, Cataract, Accessory spleen, Sclerocornea	OMIM:243605
Cleidocranial Dysplasia 1	Increased susceptibility to fractures, Enamel hypoplasia, Moderately short stature, Delayed erupt...	OMIM:119600
Deeah Syndrome	Retrognathia, Anterior pituitary hypoplasia, Decreased body weight, Decreased response to growth ...	OMIM:619004
Gm1 Gangliosidosis	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:354
Stickler Syndrome	Protrusio acetabuli, Genu valgum, Joint dislocation, Depressed nasal ridge, Short stature, Microg...	ORPHA:828
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Natal tooth, Increased bone mineral density, Micrognathia, Synostosis of joints, Shor...	ORPHA:50945
Wrinkly Skin Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Wide anterior fontane...	OMIM:278250
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Joint hypermobility, Disproportionate short-limb short stature, Osteoporosis...	OMIM:619131
Marshall Syndrome	Macrodontia of permanent maxillary central incisor, Short stature, Micrognathia, Short nose, Depr...	OMIM:154780
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Triangular face	OMIM:619264
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Renpenning Syndrome 1	Spasticity, Mandibular prognathia, Joint contracture of the hand, Wide nasal bridge, Decreased te...	OMIM:309500
Bartsocas-Papas Syndrome 1	Underdeveloped nasal alae, Ambiguous genitalia, Flexion contracture, Bicornuate uterus, Micrognat...	OMIM:263650
Williams Syndrome	Abnormal circulating lipid concentration, Precocious puberty, Patellar dislocation, Wide nasal br...	ORPHA:904
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Knee flexion contracture, Patellar hypoplasia, Wide nasal bridge, Bifid scrotum, Micrognathia, To...	OMIM:609945
Dend Syndrome	Prominent metopic ridge, Elevated hemoglobin A1c, Anteverted nares, Short nose	ORPHA:79134
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Wide nasal bridge, Narrow naris, Bilateral cryptorchidism, Camptodactyly, Hip dislo...	OMIM:617403
Arboleda-Tham Syndrome	Primary microcephaly, Lower limb hypertonia, Genu valgum, Triangular face, Microcephaly, Intraute...	OMIM:616268
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Delayed cranial suture closure, Anterior pituitary hypoplasia, Decreased response to growth hormo...	ORPHA:226307
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Down Syndrome	Flat face, Shallow acetabular fossae, Joint laxity, Short stature	OMIM:190685
Lethal Congenital Contracture Syndrome 9	Micrognathia, Ankylosis, Triangular face, Depressed nasal bridge, Anteverted nares, Intrauterine ...	OMIM:616503
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Wide anterior fontanel,...	OMIM:610682
Osteogenesis Imperfecta, Type I	Increased susceptibility to fractures, Dentinogenesis imperfecta, Otosclerosis, Recurrent fractur...	OMIM:166200
Familial Dysautonomia	Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion	ORPHA:1764
Acromesomelic Dysplasia 4	Genu varum, Genu valgum, Mandibular prognathia, Rhizomelia, Wide nasal bridge, Short stature, Tri...	OMIM:619636
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventriculomegaly, Short stature, Micrognathia, Annular pancreas, Triangular face, Spastic tetrapa...	OMIM:616975
3Q27.3 Microdeletion Syndrome	Convex nasal ridge, Slender nose, Mandibular prognathia, Triangular face	ORPHA:397695
Hurler Syndrome	Splenomegaly, Opacification of the corneal stroma, Corneal opacity, Hepatosplenomegaly	OMIM:607014
Cdags Syndrome	Delayed cranial suture closure, Sagittal craniosynostosis, Coronal craniosynostosis, Hypospadias,...	OMIM:603116
3Q29 Microduplication Syndrome	Iris coloboma, Sclerocornea, Aniridia, Cataract	ORPHA:251038
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Convex nasal ridge, Truncal ataxia, Action tremor, Hypertonia, Slender b...	ORPHA:3455
Partial Deletion Of The Short Arm Of Chromosome 7	Retrognathia, Abnormal facial shape, Bilateral cryptorchidism, Triangular face, Depressed nasal b...	ORPHA:261911
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Wide nose, Mandibular prognathia, Depressed nasal ridge, Coarse facial f...	ORPHA:261337
19P13.13 Microdeletion Syndrome	Abnormal facial shape, Short nose, Depressed nasal bridge, Long face, Anteverted nares	ORPHA:357001
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity	OMIM:253010
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Paresthesia, Short stature, Small for gestational age, Hypokale...	OMIM:241200
Noonan Syndrome 3	Sagittal craniosynostosis, Short stature, Short nose, Hypoplastic nasal bridge, Left unilambdoid ...	OMIM:609942
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Genu valgum, Obt...	OMIM:309350
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Tracheobronchomalacia, Wide nasal bridge, Micrognathia, Camptodactyly, Hip dislocation...	OMIM:613458
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Wide nasal bridge, Narrow naris, Short stature, Short nose, Failure to thrive, Depr...	OMIM:617157
17Q24.2 Microdeletion Syndrome	Otosclerosis, Decreased response to growth hormone stimulation test, Wide nasal bridge, Pineal cy...	ORPHA:529962
Tangier Disease	Opacification of the corneal stroma, Splenomegaly	OMIM:205400
Vici Syndrome	Wide nose, Penile hypospadias, Micrognathia, Triangular face, Elevated circulating creatine kinas...	OMIM:242840
Chromosome 6Pter-P24 Deletion Syndrome	Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Peters anomaly, Opac...	OMIM:612582
Distal Monosomy 9P	Hypospadias, Hypoplastic labia majora, Wide nasal bridge, Short nose	ORPHA:1642
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Limitation of joint mobility, Short nose, Depressed nasal bridge, Tracheomal...	ORPHA:93260
Parietal Foramina 1	Wormian bones	OMIM:168500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Sagittal craniosynostosis, Spasticity, Ventriculomegaly, Wide nasal bridge, L...	ORPHA:500150
Feingold Syndrome 1	Wide nasal bridge, Micrognathia, Annular pancreas, Facial asymmetry, Triangular face, Microcephal...	OMIM:164280
Menkes Disease	Chorea, Spasticity, Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Micrognathia, Intraute...	ORPHA:565
Axenfeld-Rieger Syndrome, Type 2	Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea	OMIM:601499
Monosomy 9P	Ambiguous genitalia, Micrognathia, Limitation of joint mobility, Short nose, Depressed nasal brid...	ORPHA:261112
Aromatase Deficiency	Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea	ORPHA:91
Cerebrofaciothoracic Dysplasia	Wide nose, Ventriculomegaly, Short stature, Short nose	ORPHA:1394
Phocomelia, Schinzel Type	Humeroradial synostosis, Micrognathia, Hypoplasia of penis, Short nose, Aplasia of the uterus, Di...	ORPHA:2879
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Knee flexion contracture, Hip subluxation, Broad face, Enlarged naris, Wide anterior fontanel, De...	OMIM:271665
Coffin-Siris Syndrome 12	Delayed cranial suture closure, Hip subluxation, Underdeveloped nasal alae, Noncommunicating hydr...	OMIM:619325
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Ectopia pupillae, Sclerocornea, Cataract, Microcornea	OMIM:615877
Fucosidosis	Corneal opacity	ORPHA:349
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Pseudo-Torch Syndrome 1	Splenomegaly, Cataract, Thrombocytopenia, Opacification of the corneal stroma	OMIM:251290
C Syndrome	Joint dislocation, Short stature, Micrognathia, Limitation of joint mobility, Short nose, Disloca...	ORPHA:1308
Jacobsen Syndrome	Ventriculomegaly, Wide nasal bridge, Short stature, Annular pancreas, Hip dislocation, Facial asy...	ORPHA:2308
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Floating-Harbor Syndrome	Underdeveloped nasal alae, Ivory epiphyses of the distal phalanges of the hand, Prominent nose, S...	OMIM:136140
Tangier Disease	Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly	ORPHA:31150
Floating-Harbor Syndrome	Precocious puberty, Congenital posterior urethral valve, Dislocated radial head, Enlarged joints,...	ORPHA:2044
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Mucopolysaccharidosis, Type Vii	Splenomegaly, Corneal opacity	OMIM:253220
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short stature, Triangular face, Depressed ...	OMIM:618223
Fanconi Anemia, Complementation Group C	Flexion contracture, Short stature, Small for gestational age, Triangular face, Hypergonadotropic...	OMIM:227645
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Inability to walk, Coarse facial features, Hydrocephalus, Short nose, Joint ...	ORPHA:505248
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Decreased response to growth hormone stimulation test, Short stature, Micrognath...	ORPHA:444077
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Wide nasal bridge, Micrognathia, Synostosis of carpal bones, Hypoplasia ...	ORPHA:1507
Geleophysic Dysplasia 2	Tip-toe gait, Short stature, Limitation of joint mobility, Short nose, Joint stiffness	OMIM:614185
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Wide nasal bridge, Micrognathia, Epiphyseal stippling, Camptodactyly, Sclero...	ORPHA:96334
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Somatic sensory dysfunction, Spasticity, Prominent nose, Ataxia, Triangular face	OMIM:615510
Alagille Syndrome 2	Long nose, Triangular face	OMIM:610205
Congenital Myopathy 17	Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, Triangular face, Failure to th...	OMIM:618975
Femoral-Facial Syndrome	Underdeveloped nasal alae, Hypoplastic acetabulae, Limited elbow movement, Humeroradial synostosi...	OMIM:134780
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Corneal neovascularization, Cataract, Eosinophilia, Opacification of the co...	OMIM:158310
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Triangular face	ORPHA:65288
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Prominent nose, Micrognathia, Camptodactyly, Joint laxity, Round face, Joi...	OMIM:612474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Megalocornea, Buphthalmos, Cataract, Peters anomaly, Corneal opacity	OMIM:236670
Peters Plus Syndrome	Ventriculomegaly, Rhizomelia, Short stature, Anterior hypopituitarism, Micrognathia, Hydrocephalu...	ORPHA:709
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Incontinentia Pigmenti	Keratitis, Cataract, Corneal opacity, Eosinophilia	ORPHA:464
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Flexion contracture, Ventriculomegaly, Delayed eruption of teeth, Micrognathia, ...	OMIM:619503
Aspartylglucosaminuria	Macroorchidism, Mandibular prognathia, Wide nasal bridge, Coarse facial features, Arthritis, Abno...	ORPHA:93
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Knee flexion contracture, Delayed cranial suture closure, Hip contracture, Severe generalized ost...	OMIM:210730
Mosaic Trisomy 9	Asplenia, Corneal opacity	ORPHA:99776
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Micrognathia, Severe postnatal growth retardation, Depressed nasa...	OMIM:620005
Pallister-Hall Syndrome	Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Hip dislocati...	ORPHA:672
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Cataract, Hypoplasia of the thymus, Opacification of the corneal stroma	OMIM:214110
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Short stature, Triangular face, Hypospadias, Growth delay, Cryptorchidism, Int...	ORPHA:500
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Focal Dermal Hypoplasia	Hypoplasia of the iris, Iris coloboma, Corneal opacity, Ectopia lentis	ORPHA:2092
Autosomal Recessive Cutis Laxa Type 1	Delayed cranial suture closure, Wide anterior fontanel, Abnormal facial shape, Hip dislocation, J...	ORPHA:90349
Immunodeficiency 49	Micrognathia, Natal tooth, Spastic tetraplegia, Wormian bones	OMIM:617237
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Delayed cranial suture closure, Wide anterior fontanel, Coronal craniosynostosis, Micrognathia, L...	ORPHA:85199
Arterial Tortuosity Syndrome	Hip dislocation, Short nose, Long face, Joint hyperflexibility, Craniosynostosis	ORPHA:3342
1P21.3 Microdeletion Syndrome	Micrognathia, Short nose, Joint hypermobility, Broad nasal tip, Obesity	ORPHA:293948
Yunis-Varon Syndrome	Short stature, Primary microcephaly, Micrognathia, Narrow nasal base, Hip dislocation, Hypoplasti...	ORPHA:3472
Peroxisome Biogenesis Disorder 4B	Gait disturbance, Ataxia, Short nose	OMIM:614863
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Triangular face	OMIM:614526
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Vertebral fusion, Mandibular prognathia, Wide nasal bridge, Coarse facia...	ORPHA:373
Thrombocytopenia-Absent Radius Syndrome	Anemia, Hepatosplenomegaly, Cataract, Corneal opacity, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:274000
Autosomal Dominant Cutis Laxa	Delayed cranial suture closure, Abnormal facial shape, Hip dislocation, Joint laxity, Triangular ...	ORPHA:90348
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Delayed cranial suture closure, Depressed nasal ridge, Wide nasal bridge, Shawl scrotum, Bifid sc...	ORPHA:2211
Okamoto Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Short nose, Joint hypermobility, Depressed nasal br...	ORPHA:2729
1P36 Deletion Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Abnormality of female external genitalia...	ORPHA:1606
Curry-Jones Syndrome	Ventriculomegaly, Facial asymmetry, Unicoronal synostosis, Bicoronal synostosis, Wormian bones	OMIM:601707
Mucopolysaccharidosis Type 1	Splenomegaly, Corneal opacity	ORPHA:579
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Otopalatodigital Syndrome, Type Ii	Broad face, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Short stature, Mi...	OMIM:304120
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Babinski sign, Triangular face, Failure to thrive, Tremor, Elevated hemoglobin A1c, H...	OMIM:616539
Acromesomelic Dysplasia 1	Disproportionate short stature, Short nose, Joint laxity, Limited elbow extension	OMIM:602875
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Hurler Syndrome	Splenomegaly, Corneal opacity	ORPHA:93473
Gaucher Disease, Type Iiic	Opacification of the corneal stroma, Splenomegaly, Pancytopenia	OMIM:231005
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental ca...	OMIM:175780
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Triangular face	OMIM:225060
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Craniosynostosis, Short nose	OMIM:200995
Williams-Beuren Syndrome	Flexion contracture, Vocal cord paralysis, Short nose, Urethral stenosis, Obesity, Intrauterine g...	OMIM:194050
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Mucopolysaccharidosis Type 3	Splenomegaly, Corneal opacity, Cataract, Opacification of the corneal stroma	ORPHA:581
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Short stature, Triangular face	ORPHA:3218
Bartter Syndrome Type 4	Small for gestational age, Clumsiness, Hypokalemia, Increased circulating renin level, Triangular...	ORPHA:89938
Fryns Syndrome	Corneal opacity	ORPHA:2059
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Liver Disease, Severe Congenital	Poor fine motor coordination, Micrognathia, Elevated circulating alpha-fetoprotein concentration,...	OMIM:619991
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Pallister-Killian Syndrome	Delayed cranial suture closure, Flexion contracture, Ventriculomegaly, Wide nasal bridge, Delayed...	OMIM:601803
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Carpenter Syndrome 1	Opacification of the corneal stroma, Polysplenia, Microcornea	OMIM:201000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Corneal opacity	ORPHA:79396
Fabry Disease	Anemia, Cataract, Conjunctival telangiectasia, Corneal opacity, Corneal dystrophy	ORPHA:324
Pachydermoperiostosis	Hyperhidrosis, Elevated circulating growth hormone concentration	ORPHA:2796
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Shawl scrotum, Advanced eruption of teeth, Round face, Short nose, Female pseu...	ORPHA:1519
Noonan Syndrome 1	Dental malocclusion, Hypogonadism, Short stature, Micrognathia, Synovitis, Triangular face, Hypos...	OMIM:163950
Noonan Syndrome	Short stature, Micrognathia, Radioulnar synostosis, Triangular face, Joint hyperflexibility, Cryp...	ORPHA:648
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Underdeveloped nasal alae, Rhinitis, Taurodontia, Absent nipple, Short nose, Hypoplasia of the ma...	OMIM:305100
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma, Splenomegaly	ORPHA:583
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Tolchin-Le Caignec Syndrome	Precocious puberty, Prominent nose, Wide nasal bridge, Micrognathia, Triangular face, Long face	OMIM:618971
Duodenal Neuroendocrine Tumor	Increased circulating ACTH level, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, E...	ORPHA:100076
Histiocytoid Cardiomyopathy	Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hip dislocation, Joint hypermobility, Joint subluxation,...	OMIM:617821
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure, Hyposmia, Supernumerary nipple, Microcephaly, Difficulty walking,...	OMIM:618653
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Retrognathia, Depressed nasal ridge, Short stature, Micrognathia,...	OMIM:105650
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti...	ORPHA:79318
Moebius Syndrome	Corneal opacity	ORPHA:570
Mucopolysaccharidosis, Type Vi	Splenomegaly, Corneal opacity	OMIM:253200
Occipital Horn Syndrome	Delayed cranial suture closure, Genu valgum, Osteomalacia, Hip dislocation, Abnormality of the wr...	ORPHA:198
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Wide nasal br...	ORPHA:306542
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Anemia, Lentiglobus, Buphthalmos, Cataract, Corneal opacity, Thrombocy...	ORPHA:534
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Abnormality of the s...	ORPHA:2072
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity	ORPHA:464306
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Hypoplasia of the frontal bone, Bifid nose, Midline defect of the nose...	OMIM:229400
Chime Syndrome	Acute leukemia, Corneal opacity	ORPHA:3474
Neurofibromatosis Type 1	Cataract, Heterochromia iridis, Corneal opacity, Lisch nodules, Leukemia, Chronic myelogenous leu...	ORPHA:636
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Peters anomaly, Sclerocornea, Cataract	OMIM:309801
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity	OMIM:615273
Alagille Syndrome 1	Hypercholesterolemia, Triangular face, Failure to thrive, Depressed nasal bridge, Concave nasal r...	OMIM:118450
Encephalocraniocutaneous Lipomatosis	Iris coloboma, Corneal opacity	ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Corneal dystrophy, Keratoconjunctivitis sicca, Corneal opacity	ORPHA:495875
Isolated Exencephaly	Posterior pituitary agenesis, Hypoplasia of the frontal bone, Anterior pituitary hypoplasia, Depr...	ORPHA:563612
Gaucher Disease	Anemia, Pancytopenia, Corneal opacity, Thrombocytopenia, Splenomegaly	ORPHA:355
Meckel Syndrome	Asplenia, Aplasia/Hypoplasia of the iris, Microcornea, Cataract, Accessory spleen, Sclerocornea	ORPHA:564
Norrie Disease	Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Ectopia lentis, Ca...	ORPHA:649
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Wilson Disease	Anemia, Hemolytic anemia, Kayser-Fleischer ring, Thrombocytopenia, Splenomegaly	OMIM:277900
Hunter-Macdonald Syndrome	Delayed cranial suture closure, Joint contracture of the hand, Short stature, Camptodactyly, Prem...	OMIM:611962
Phace Syndrome	Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Sclerocornea	ORPHA:42775
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Posterior embryotoxon, Sclerocornea	ORPHA:2556
Simpson-Golabi-Behmel Syndrome, Type 1	Dental malocclusion, Mandibular prognathia, Wide nasal bridge, Coarse facial features, Hydrocepha...	OMIM:312870
Ablepharon Macrostomia Syndrome	Corneal opacity, Corneal erosion	ORPHA:920
Yunis-Varon Syndrome	Micrognathia, Hip dislocation, Absent sternal ossification, Large fontanelles, Birth length less ...	OMIM:216340
Proboscis Lateralis	Iris coloboma, Corneal opacity, Cataract, Microcornea	ORPHA:141099
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Oculoectodermal Syndrome	Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Microcornea	OMIM:600268
Mucopolysaccharidosis Type 2, Severe Form	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:217093
Mucopolysaccharidosis Type 2	Splenomegaly, Corneal opacity	ORPHA:580
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Opacification of the corneal stroma, Cataract	OMIM:251300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Corneal erosion, Astigmatism, Corneal opacity, Keratitis	ORPHA:2273
Limb Body Wall Complex	Lens subluxation, Iris coloboma, Corneal opacity	ORPHA:2369
Microphthalmia, Syndromic 3	Cataract, Sclerocornea	OMIM:206900
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Paresthesia, Hip dislocation, Abnormality of the wrist, Limitation of joint mo...	ORPHA:285
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Smith-Lemli-Opitz Syndrome	Iris coloboma, Sclerocornea, Cataract	ORPHA:818
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Wolf-Hirschhorn Syndrome	Iris coloboma, Megalocornea, Sclerocornea	ORPHA:280
Xeroderma Pigmentosum	Pterygium, Cataract, Conjunctival telangiectasia, Keratitis, Opacification of the corneal stroma	ORPHA:910
Mucolipidosis Ii Alpha/Beta	Opacification of the corneal stroma, Megalocornea, Splenomegaly	OMIM:252500
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity	ORPHA:740
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Penile Agenesis	Ambiguous genitalia, Absent penis, Urethral fistula, Short nose, Depressed nasal bridge, Urethral...	ORPHA:49
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Cockayne Syndrome A	Opacification of the corneal stroma, Splenomegaly, Cataract	OMIM:216400
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Thrombocytopenia, Splenomegaly, Scleroco...	OMIM:188400
Roberts-Sc Phocomelia Syndrome	Opacification of the corneal stroma, Cataract, Accessory spleen, Corneal opacity	OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma	OMIM:253280
Fryns Syndrome	Opacification of the corneal stroma, Polysplenia	OMIM:229850
Microphthalmia, Syndromic 6	Sclerocornea, Microcornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal neovasculariz...	OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287

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 Tmco1

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 Tmco1.

No publications found that use IMPC mice or data for Tmco1.

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MGI Allele	Allele Type	Produced
Tmco1^em1(IMPC)J	Exon Deletion	Mice

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Gene: Tmco1 MGI:1921173

Gene Summary

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Phenotypes

lacZ Expression

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MicroCT E18.5

Auditory Brain Stem Response

Human diseases caused by Tmco1 mutations

Histopathology

IMPC related publications

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