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Gene: Tmco1 MGI:1921173

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Gene Summary

Name:
transmembrane and coiled-coil domains 1
Synonyms:
ESTM39,  1190006A08Rik,  4930403O06Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Tmco1em1(IMPC)J HOM   Early adult 0.00
corneal opacity Tmco1em1(IMPC)J HET Early adult 3.05×10-06
female infertility Tmco1em1(IMPC)J HOM Early adult 0.00
increased leukocyte cell number Tmco1em1(IMPC)J HET Early adult 2.70×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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MicroCT E18.5

Embryo reconstruction

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 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.

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
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... OMIM:213980
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Ventriculomegaly, Short nose ORPHA:1394

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
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 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... 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
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Depressed nasal bri... OMIM:215100
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Grant Syndrome
Large face, Joint dislocation, Depressed nasal bridge, Short stature, Micrognathia, Large fontane... ORPHA:2097
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Narrow face, Depressed nasal bridge, Camptodactyly of fing... ORPHA:1529
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Anteverted nares, Prominent nasal bridge, Short stature, Microcephaly, Hydr... OMIM:300558
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short stature, Micrognathia, Capitate-hamate fusion, Radial head subluxation, Wide nasal bridge, ... OMIM:614078
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Microcephaly, Attention deficit hyperactivity disorder, Delayed p... ORPHA:217340
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling, Increased circulating very long-... OMIM:614859
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Waddling gait, Enlarged joints, Short stature, Disproportionate short-limb short stature, Limited... ORPHA:156728
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Ventriculomegaly, Fractured radius, Hypospadias, Anteverted nares, Micrognathia, Mult... OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 45
Round face, Coarse facial features, Anteverted nares, Bulbous nose, Wide nasal bridge, Retrognath... OMIM:615979
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Achondrogenesis
Severe short stature, Anteverted nares, Abnormal enchondral ossification, Micrognathia, Abnormali... ORPHA:932
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Microcephaly, Cryptorchidism, Intrauterine growth retardatio... OMIM:616910
Al-Raqad Syndrome
Joint laxity, Microcephaly, Inability to walk, Gait ataxia, Short nose, Flat face OMIM:616459
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Short stature, Micrognathia, Bulbous nose, Wide nasal bridge, Growth delay, Cam... OMIM:613604
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... ORPHA:1248
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Narrow face, Depressed nasal bridge, Short stature, Anteverted nares, Camp... ORPHA:1327
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Peroxisome Biogenesis Disorder 3B
Ataxia, Depressed nasal ridge, Osteoporosis, Elevated circulating phytanic acid concentration, Hy... OMIM:266510
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet... OMIM:602668
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Abnormal enchondral ossification, Micrognathia, Dispropor... ORPHA:93298
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Joint hyperfle... ORPHA:1695
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Achondrogenesis Type 1A
Severe short stature, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Mi... ORPHA:93299
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short stature, Spastic tetraparesis, Inability to walk, Growth delay, Pro... ORPHA:438178
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Emery-Nelson Syndrome
Flat face, Depressed nasal bridge, Camptodactyly of finger, Interphalangeal thumb joint contracture ORPHA:1927
Distal Monosomy 7Q36
Large face, Hypoplasia of penis, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Bulbo... ORPHA:1636
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Large fontanelles, Mandibula... ORPHA:1832
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Large face, Wide nose, Rhizomelia, Depressed nasal ridge, Genu valgum, Sho... ORPHA:2831
20Q11.2 Microduplication Syndrome
Bifid scrotum, Short attention span, Coarse facial features, Prominent metopic ridge, Anteverted ... ORPHA:363659
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Knee flexion contracture, Wrist flexion contracture, Ne... OMIM:193700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Elbow dislocation, Advanced ossification of carpal bones, Knee dislo... OMIM:620269
Orofaciodigital Syndrome Xv
Flat face, Anteverted nares, Wide nasal bridge, Ventriculomegaly OMIM:617127
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Round face, Short stature, Microcephaly, Wide nasal bridge, Growth delay, Camptodactyly, Cervical... OMIM:617333
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Short stature, Small for gestational age, Attention deficit hyperactivity disorde... OMIM:245570
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Kyphomelic Dysplasia
Micrognathia, Joint stiffness, Disproportionate short stature, Limitation of joint mobility, Flat... ORPHA:1801
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Round face, Anteverted nares, Short stature, Hypospadias, Depressed nasal ridge, Short nose ORPHA:1355
Pde4D Haploinsufficiency Syndrome
Joint laxity, Mandibular prognathia, Coarse facial features, Depressed nasal bridge, Hypospadias,... ORPHA:439822
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Short stature, Small for gestational age, Micrognathia, Microcephaly, Cryptorchidism... OMIM:612626
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Broad nasal tip, Achilles tendon contracture, Dental malocclusion, Li... OMIM:619719
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Anteverted nares, Rhizomelia, Abnormality of the elbow, Depressed nasal ridge,... ORPHA:1842
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Anteverted nares, Microcephaly, Abnormal facial shape, Short nose ORPHA:46
Hao-Fountain Syndrome
Speech apraxia, Cryptorchidism, Large fontanelles, Abnormal facial shape, Apraxia, Micropenis, De... OMIM:616863
Congenital Disorder Of Glycosylation, Type Ii
Joint laxity, Short stature, Microcephaly, Wide nasal bridge, Decreased body weight, Flat face, V... OMIM:607906
Dysostosis, Stanescu Type
Narrow nasal bridge, Increased bone mineral density, Persistent open anterior fontanelle, Short s... ORPHA:1798
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Short stature, Camptodactyly of finger, Microcephaly, Limitation of joint mobi... ORPHA:2994
Thoracomelic Dysplasia
Round face, Elbow dislocation, Genu valgum, Joint hyperflexibility, Gait disturbance, Disproporti... ORPHA:1803
Peroxisome Biogenesis Disorder 7A (Zellweger)
Large posterior fontanelle, Elevated circulating hexacosanoic acid concentration, Wide anterior f... OMIM:614872
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Codas Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, ... ORPHA:1458
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Wiedemann-Steiner Syndrome
Joint laxity, Wide nose, Broad-based gait, Short stature, Broad nasal tip, Postnatal growth retar... OMIM:605130
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... ORPHA:457083
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Microcephaly, Growth delay, Hypertonia, Int... ORPHA:1495
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Joint hypermobility, Microcephaly, Carious teeth, W... OMIM:219200
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Microcephaly, Cryptorchidism, Depressed nasal ridge, Pseudohypoparathyroidism, ... ORPHA:464288
Thanatophoric Dysplasia Type 2
Short stature, Depressed nasal bridge, Hydrocephalus, Limitation of joint mobility, Joint hyperfl... ORPHA:93274
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Thanatophoric Dysplasia
Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Hydrocephalus, Joi... ORPHA:2655
Winchester Syndrome
Corneal opacity OMIM:277950
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Depressed nasal bridge, Osteoporosis, Growth delay, Camptodactyly, Abnormal facial shape, Flat face OMIM:616006
Metaphyseal Acroscyphodysplasia
Joint dislocation, Severe short stature, Depressed nasal ridge, Wide nasal bridge, Flat face, Gen... ORPHA:1240
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Short nose, Abnormal facial shape, Obesity OMIM:300577
Autosomal Recessive Stickler Syndrome
Short stature, Micrognathia, Genu valgum, Joint hyperflexibility, Flat face ORPHA:250984
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Hyperalaninemia, Anteverted nares, Hypospadias, Ataxia, Small for gestational ... OMIM:614052
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Zellweger Syndrome
Depressed nasal bridge, Hypospadias, Short stature, Micrognathia, Microcephaly, Cryptorchidism, W... ORPHA:912
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Short stature, Microcephaly, Postnatal growth retardation,... OMIM:619489
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Postnatal growth retardation, Cryptorchidism, Microcephaly, Abnormal ... OMIM:615419
Vulto-Van Silfhout-De Vries Syndrome
Joint laxity, Mandibular prognathia, Pain insensitivity, Gait disturbance, Flat face OMIM:615828
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Depressed nasal bridge, Small for gestational age, Microcephaly, Postnatal growth retardation, Cr... ORPHA:319332
Blepharophimosis-Impaired Intellectual Development Syndrome
Joint laxity, Wide nose, Hypospadias, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal ... OMIM:619293
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... OMIM:618419
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Craniosynostosis,... OMIM:614732
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Short stature, Micrognathia ORPHA:2015
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Broad nasal tip, Obesity, Attention deficit hyperac... OMIM:613670
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Short stature, Wide anterior fontanel, Dental malocclusion, Abse... OMIM:608545
Proximal 16P11.2 Microduplication Syndrome
Short stature, Microcephaly, Tremor, Flat face, Attention deficit hyperactivity disorder, Micrope... ORPHA:370079
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Burkitt Lymphoma
Hyperuricemia, Abnormality of the ovary ORPHA:543
Baker-Gordon Syndrome
Joint laxity, Ataxia, Involuntary movements, Inability to walk, Athetoid cerebral palsy, Choreoat... OMIM:618218
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Camptodactyly of finger, Short stature, Impaired pain sensat... ORPHA:261211
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Flexion contracture, Hypertonia, Short nose, Failure to thrive OMIM:618379
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Micrognathia, Mi... ORPHA:3078
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Hip contracture, Congenital hip dislocation, Short stature, Shoulder flexion contr... OMIM:255800
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:79085
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Tetrasomy 5P
Coarse facial features, Anteverted nares, Micrognathia, Postnatal growth retardation, Wide anteri... ORPHA:3309
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Chromosome 5Q12 Deletion Syndrome
Coarse facial features, Micrognathia, Postnatal growth retardation, Prominent nose, Flat face, De... OMIM:615668
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Coarse facial features, Ataxia, Joint stiffness, Progressive psychomotor deteri... OMIM:230600
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Coarse facial features, Restricted large joint movement, Micrognat... ORPHA:93346
Chromosome 3Pter-P25 Deletion Syndrome
Small for gestational age, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Pro... OMIM:613792
Distal Duplication 5Q
Hypospadias, Prominent nasal bridge, Craniosynostosis, Short stature, Micrognathia, Cryptorchidis... ORPHA:96097
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, La... ORPHA:2780
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Anteverted nares, Craniosynostosis, Depressed nasal bridge, Micrognathia, Cryptorchi... ORPHA:171839
Multiple Sulfatase Deficiency
Coarse facial features, Anteverted nares, Short stature, Ataxia, Hydrocephalus, Spasticity, Rapid... OMIM:272200
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Abruzzo-Erickson Syndrome
Hypospadias, Short stature, Cryptorchidism, Coronal hypospadias, Radioulnar synostosis, Flat face ORPHA:921
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Microcephaly, Limitation of joint mobility, Growth delay, Epiphyseal s... ORPHA:177
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis... OMIM:619859
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Round face, Short stature, Flat face, Genu valgum OMIM:132450
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Hydrocephalus, Unil... OMIM:618577
Desbuquois Dysplasia 2
Joint laxity, Round face, Severe short stature, Depressed nasal bridge, Coarse facial features, M... OMIM:615777
Alazami Syndrome
Wide nose, Severe short stature, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Retract... OMIM:615071
Distal Duplication 18Q
Hypoplasia of penis, Round face, Anteverted nares, Camptodactyly of finger, Choanal atresia, Prom... ORPHA:1716
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridge, Disproportio... OMIM:224410
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Camptodactyly of finger, Underdevelop... ORPHA:2083
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen... OMIM:614886
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger... OMIM:612394
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevat... OMIM:302960
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Pancreatitis, Polycystic ovaries ORPHA:79084
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Micrognathia, Cryptorchidism, ... ORPHA:2863
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Diabetes mellitus, Polycystic ovaries OMIM:608709
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Short stature, Anteverted nares, Micrognathia, Persistence of primary teeth... OMIM:618342
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Choanal stenosis,... OMIM:101200
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Coarse facial features, Prominent nose, Bulbous nose, Thick nasal alae, Triangular face ORPHA:293707
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Anteverted nares, Micrognathia, Large fontanelles, Wide nasal bridge, Flat face OMIM:602562
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Triangular face, Short stature, Recurrent fr... OMIM:610967
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Short nose, Flat face OMIM:618774
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Coarse facial features, Spasticity, Truncal obesity, Gait disturbance, Sho... ORPHA:2429
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:435651
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Short nose, Failure to thr... OMIM:242860
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Wide nasal bridge, Premat... ORPHA:3369
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Short stature, Broad nasal tip, Overweight, Hypercholesterolemia, Abnormal... ORPHA:401923
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Abnormality of chromosome stability, Polycystic ovaries, Ty... ORPHA:100
Achondrogenesis, Type Ib
Stillbirth, Neonatal short-limb short stature, Flat face, Absent or minimally ossified vertebral ... OMIM:600972
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Anteverted nares, Depressed nasal bridge, Hypoplastic labia minora, Flexion co... OMIM:619124
Robinow-Sorauf Syndrome
Craniosynostosis, Long nose, Pansynostosis, Flat face, Narrow nose OMIM:180750
Otopalatodigital Syndrome, Type I
Short stature, Delayed closure of the anterior fontanelle, Limited knee flexion, Capitate-hamate ... OMIM:311300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Flat face, Ventriculome... OMIM:109120
Pfeiffer Syndrome
Mandibular prognathia, Short stature, Facial asymmetry, Wide nasal bridge, Hypoplasia of the zygo... ORPHA:710
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Joint stiffness, Wide anterior fontanel, Hydrocephalus, Abnormal sacroili... ORPHA:1860
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Hypospadias, Small for gestational age, Microgna... OMIM:614541
Richieri Costa-Da Silva Syndrome
Joint dislocation, Short stature, Inability to walk, Limitation of joint mobility, Genu valgum, F... ORPHA:3101
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os... ORPHA:2774
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
3-Hydroxyisobutyric Aciduria
Hypogonadotropic hypogonadism, Micrognathia, Microcephaly, Intrauterine growth retardation, Trian... ORPHA:939
Peho-Like Syndrome
Progressive microcephaly, Myoclonus, Short nose, Retrognathia, Ventriculomegaly OMIM:617507
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated circulating c... ORPHA:435660
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Short attention span, Failure to thrive, Decreased serum iron, Broad nasal... ORPHA:391372
Slc39A8-Cdg
Osteopenia, Short stature, Failure to thrive in infancy, Craniosynostosis, Abnormal blood zinc co... ORPHA:468699
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Round face, Short stature, Decreased response to... ORPHA:319182
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Micrognathia, Microcephaly, Flexion contracture, Osteoporosis, Spastic ... OMIM:615851
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Preeclampsia
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... ORPHA:275555
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Anteverted nares, Prominent nasal bridge, Cachexia, Prominent nose, ... OMIM:616801
Periventricular Nodular Heterotopia 7
Microretrognathia, Round face, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:617201
Chung-Jansen Syndrome
Round face, Anteverted nares, Micrognathia, Cryptorchidism, Obesity, Attention deficit hyperactiv... OMIM:617991
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... OMIM:268020
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Broad-based gait, Anteverted nares, Small for gestational age, Proportio... ORPHA:391408
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Coarse facial features, Hypospadias, Anteverted nares, Persis... OMIM:610253
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... OMIM:213980
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Coarse facial features, Cerebral palsy, Depressed nasal bridge, Short stature, Ataxia, Micrognath... OMIM:619833
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, Hypospadias, Cr... OMIM:614866
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Persistent open anterior fontanelle, Congenital hip dislocation, Ataxia... ORPHA:357058
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Flexion contract... ORPHA:1865
17P11.2 Microduplication Syndrome
Speech apraxia, Short stature, Micrognathia, Microcephaly, Poor fine motor coordination, Attentio... ORPHA:1713
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Inability to walk, Wrist swe... OMIM:166300
Lowry-Maclean Syndrome
Osteopenia, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypospadias, Talon... ORPHA:2409
Pierpont Syndrome
Wide nose, Short stature, Broad nasal tip, Microcephaly, Cryptorchidism, Hypertonia, Broad face, ... OMIM:602342
Trisomy 12P
Short stature, Supernumerary nipple, Micrognathia, Wide nasal bridge, Short nose, Flat face ORPHA:1699
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl... ORPHA:87
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Short stature, Small for gestational age, Hip subluxation, Delayed epiphyseal ossif... ORPHA:93360
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Camptodactyly of finger, Underdeveloped nasal alae, Long nose, Cryptorchidism, Mic... ORPHA:1968
Potocki-Shaffer syndrome
Abnormality of the male genitalia, Delayed cranial suture closure DECIPHER:34
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Microcephaly, Postnatal growth retardation, Carious teeth, Decrea... ORPHA:93324
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Rhizomelia, Wide anterior fontanel, Widely patent coron... OMIM:228520
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Narrow face, Short stature, Prominent nasal bridge, Small for gestational age, ... OMIM:611091
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Silver-Russell Syndrome 4
Birth length less than 3rd percentile, Small for gestational age, Triangular face, Decreased body... OMIM:618907
Down Syndrome
Joint laxity, Depressed nasal bridge, Impaired pain sensation, Depressed nasal ridge, Obesity, Ab... ORPHA:870
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hypercholeste... ORPHA:528
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Abnormal external genitalia, Short stature, Small for gestational age, Delayed closure of the ant... ORPHA:231140
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short stature, Anteverted nares, Microcephaly, Wide nasal bridge, Radioulnar synostosis, Enamel a... OMIM:614701
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Hypospadias, Short stature, Multiple pterygia, Flat face, Hypoplastic nipples,... OMIM:177980
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Anteverted nares, Depressed nasal bridge, Microgn... ORPHA:1427
Smith-Magenis Syndrome
Mandibular prognathia, Micrognathia, Large face, Depressed nasal bridge, Anteverted nares, Short ... ORPHA:819
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Round face, Flat face ORPHA:2536
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Round face, Anteverted nares, Hypospadias, Micrognathia, Cubitus valgus, Crypt... OMIM:214100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Multiple joint dislocation, Knee dislocation, Shoulder dislocation, Dis... OMIM:245600
Intellectual Developmental Disorder, Autosomal Dominant 59
Mild short stature, Short stature, Flat face OMIM:618522
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Ambiguous genitalia, Depressed nasal bridge, Recurrent fractu... ORPHA:140
Short Stature, Brussels Type
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Abnormal facial ... ORPHA:2867
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Depressed nasal bridge, Anteverted nares, Limited elbow movement, Prominent nasal bridge, Short s... OMIM:610759
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Round face, Severe short stature, Micrognathia, Hydrocephalus, Limitation of joint mobility, Adva... OMIM:224400
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Short attention span, Communicating hydrocephalus, Depressed nasal brid... ORPHA:309282
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostosis, Short ... OMIM:601853
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micrognathia, Hypertonia, Wrist flexion contr... ORPHA:800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Short attention span, Short stature, Small for gestational age, Microg... ORPHA:73272
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Dysmetria, Micropenis, Long face, Short stature, Ataxia, Cryptorchidism, Gait disturba... OMIM:616541
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Spastic tetraparesis, Microcephaly, Hemiplegia/hemiparesis, Spasticity, Short nose ORPHA:833
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Round face, Anteverted nares, Hypospadias, Depressed nasal bridge, Cryptor... OMIM:614613
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Abnormally ossified vertebrae, Coarse facial features, Limited elbow movement, Mic... ORPHA:94068
Verheij Syndrome
Joint laxity, Vertebral fusion, Square face, Anteverted nares, Short stature, Small for gestation... OMIM:615583
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla,... ORPHA:560
Aymé-Gripp Syndrome
Prominent metopic ridge, Depressed nasal bridge, Short stature, Craniosynostosis, Asymmetric cryi... ORPHA:1272
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Round face, Anteverted nares, Depressed nasal bridge, Short stature, Small for gestati... OMIM:613320
Silver-Russell Syndrome 5
Birth length less than 3rd percentile, Intrauterine growth retardation, Small for gestational age... OMIM:618908
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... ORPHA:85327
Osteogenesis Imperfecta, Type Xxii
Short stature, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium con... OMIM:619795
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Round face, Depressed nasal bridge, Hypospadias, Microcephaly, Cryptorchid... OMIM:619103
Mucolipidosis Type Ii
Hip contracture, Coarse facial features, Prominent metopic ridge, Depressed nasal bridge, Short s... ORPHA:576
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Triangular face, Anteverted nares, Prominent nasal bridge, Short stature, Microg... ORPHA:371364
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Distal Deletion 10Q
Clonus, Prominent nose, Micrognathia, Abnormal facial shape, Prominent metopic ridge, Short statu... ORPHA:96148
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short nose, Short stature, Reduced bone mineral density ORPHA:2370
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short stature, Hypertonia, Abnormal facial shape, Myoclonus, Secondary... ORPHA:289266
Stickler Syndrome, Type Iv
Short stature, Flat face, Genu valgum OMIM:614134
Simosa Craniofacial Syndrome
Underdeveloped nasal alae, Long nose, Wide nasal bridge, Depressed nasal tip, Flat face, Long face OMIM:182150
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Silver-Russell Syndrome 3
Short stature, Unilateral cryptorchidism, Elbow contracture, Small for gestational age, Postnatal... OMIM:616489
Mevalonic Aciduria
Short stature, Ataxia, Microcephaly, Large fontanelles, Triangular face ORPHA:29
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Coarse facial features, Anteverted nares, Delayed cranial suture closure, In... OMIM:619383
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, M... OMIM:613544
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, External genital hypoplasia, Secondary microcephaly, Intrauterine grow... ORPHA:231147
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Microcephaly, Anosmia, Epiphyseal stippling, Hypogonadism,... OMIM:302950
Larsen Syndrome
Depressed nasal bridge, Short stature, Craniosynostosis, Large joint dislocations, Cryptorchidism... ORPHA:503
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Triangular face, Depressed nasal bridge, Anteverted nar... OMIM:273750
Chromosome 10Q26 Deletion Syndrome
Short attention span, Broad-based gait, Small scrotum, Short stature, Small for gestational age, ... OMIM:609625
Acromicric Dysplasia
Round face, Severe short stature, Anteverted nares, Joint stiffness, Bulbous nose, Short nose ORPHA:969
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism, Ataxia, Triangular face, Gait disturbance ORPHA:1174
Trigonocephaly 1
Craniosynostosis, Microcephaly, Long penis, Wide nasal bridge, Metopic synostosis, Short nose OMIM:190440
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Flat face OMIM:616994
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Triangular face, Short stature, Recurrent fr... OMIM:616294
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... OMIM:613849
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Miller-Dieker Syndrome
Growth delay, Short nose, Anteverted nares, Ataxia ORPHA:531
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Congenital hip dislocation, Short nose, Ventriculomegaly ORPHA:217385
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Coarse facial features, Rhizomelia, Depressed nasal bridge, Flat acetabular roof, Decreased crani... OMIM:151210
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large face, Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Large fontanelles, ... OMIM:614883
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Hypospadias, Joint stiffness, Micrognathia, Cryptorchidi... OMIM:618820
Desmosterolosis
Hypoplastic nasal bridge, Failure to thrive, Anteverted nares, Rhizomelia, Micrognathia, Microcep... OMIM:602398
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Waddling gait, Flat acetabular roof, Disproportionate short-limb short stature, Limited elbow ext... OMIM:608728
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Round face, Incoordination, Depressed nasal bridge, Short stature, Ataxia,... ORPHA:369891
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Abnormal hand bone ossificati... OMIM:200600
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Concave nasal ridge, Wormian bones, Pathologic fract... ORPHA:166277
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Short stature, Narrow nasal ridge, Hypoarginine... OMIM:219150
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Hydrocephalus, Hypertonia, Shor... ORPHA:1895
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Depressed nasal bridge, Mild postnatal growth retardation, Cryptorchid... OMIM:235510
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube mor... ORPHA:722
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Labial hypoplasia, Triang... ORPHA:231137
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Micropenis, Short nose OMIM:601224
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Coarse facial features, Depressed nasal bridge, Ataxia, Unsteady gait, Hyperton... OMIM:617865
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Anteverted nares, Short stature, Abnormality of fontane... ORPHA:847
Craniosynostosis, Herrmann-Opitz Type
Short stature, Craniosynostosis, Micrognathia, Cognitive impairment, Intrauterine growth retardat... ORPHA:2145
Alagille Syndrome
Round face, Coarse facial features, Micrognathia, Long nose, Cryptorchidism, Delayed puberty, Int... ORPHA:52
Rhiny
Short nose, Anteverted nares OMIM:180360
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Psychomotor deterioration, Congenital hip dislocation, Anteverted nares, Short stature, Delayed c... ORPHA:357074
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hyperflexibility, Osteoporosis, Microcephaly ORPHA:2787
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Joint dislocation, Short stature, Recurrent fractures, Craniosynostosis... OMIM:130070
Mulibrey Nanism
Wide nose, Triangular face, Depressed nasal bridge, Short stature, Dental malocclusion, Wide nasa... OMIM:253250
Desbuquois Dysplasia 1
Joint laxity, Microretrognathia, Waddling gait, Severe short stature, Depressed nasal bridge, Rou... OMIM:251450
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Ataxia, Microcephaly, Tremor, Poor coordination, Gait disturbance, Abnormality of pa... ORPHA:544254
Warburg Micro Syndrome 3
Lower limb spasticity, Ventriculomegaly, Small scrotum, Micrognathia, Postnatal growth retardatio... OMIM:614222
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Omodysplasia 1
Depressed nasal bridge, Rhizomelia, Micrognathia, Limited knee flexion, Cryptorchidism, Limited h... OMIM:258315
Chromosome 3Q29 Duplication Syndrome
Round face, Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Short nose, Long face OMIM:611936
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Broad nasal tip, Microcephaly, Inability to walk, Wide nasal bridge, Growt... OMIM:615716
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Ataxia, Hypoplasia of the maxilla, Inability to walk, Bulbous nose, Flexion con... ORPHA:481152
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Osteom... ORPHA:289157
Congenital Myopathy 19
Micrognathia, Cryptorchidism, Depressed nasal ridge, Congenital contracture, Gait disturbance, Tr... OMIM:618578
Harel-Yoon Syndrome
Mandibular prognathia, Ataxia, Micrognathia, Inability to walk, Spasticity, Short nose, Long face OMIM:617183
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Kbg Syndrome
Vertebral fusion, Round face, Persistent open anterior fontanelle, Anteverted nares, Prominent na... ORPHA:2332
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Short stature, Hip dislocation, Advanced ossification of carpal bones, ... OMIM:615349
Chopra-Amiel-Gordon Syndrome
Short stature, Microcephaly, Postnatal growth retardation, Flared nostrils, Attention deficit hyp... OMIM:619504
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial asymmetry, Hypoplasia of the maxilla, Tremor, Inability to walk, Flexion contracture, Wide... OMIM:218000
Perlman Syndrome
Hypoplasia of penis, Round face, Anteverted nares, Micrognathia, Cryptorchidism, Abnormal pancrea... ORPHA:2849
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Prominent nose, Micrognathia, Micropenis, ... ORPHA:363528
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Short stature, Micrognathia, Flat face ORPHA:2268
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Short stature, Camptodactyly of finger, Ulnar deviation of the wrist, Micr... OMIM:601680
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Distal Deletion 12Q
Coarse facial features, Unilateral cryptorchidism, Anteverted nares, Short stature, Micrognathia,... ORPHA:96149
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Round face, Depressed nasal bridge, Micrognathia, Joint stiffnes... ORPHA:2062
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Eunuchoid habitus, Wide nose, Coarse facial features, Abnormal columella morphology, ... ORPHA:2463
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Inability to walk, Bulbous nose, Babinski sign, Spasticity, Hyperkinetic moveme... OMIM:616420
Fish-Eye Disease
Splenomegaly, Corneal opacity ORPHA:79292
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Depressed nasal bridge, Joint hypermobility, Joint sti... OMIM:617988
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Small for gestational age, Micrognathia, Microcephaly, Dent... OMIM:610883
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Hypospadias, Depressed nasal bridge, Flexion contracture, Wide nasal bridge, Late... OMIM:619479
Osteogenesis Imperfecta, Type Iii
Triangular face, Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple pre... OMIM:259420
Marshall-Smith Syndrome
Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis, Increased susceptibility ... ORPHA:561
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Inability to walk, Lateral ve... OMIM:613443
Glutamine Deficiency, Congenital
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridg... OMIM:610015
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabe... ORPHA:79083
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Rhizomelia, Short stature, Cryptorchi... ORPHA:93329
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Narrow nasal ridge, Microcephaly, Bulbous nose, Hydroceph... OMIM:612940
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Failure to thrive, Anteverted nares, Hypospadias, Short stature, Underdeveloped na... OMIM:613026
Acrocephalopolydactyly
Premature closure of fontanelles, Genu recurvatum, Short nose, Depressed nasal ridge ORPHA:221054
Blepharocheilodontic Syndrome 1
Flat face, Choanal atresia OMIM:119580
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Spastic tetraparesis, Microcephaly, Delayed eruption of permanent teeth, Short ... OMIM:618506
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Precocious pube... ORPHA:96184
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide ante... ORPHA:163649
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Hypospadias, Broad nasal tip, Wide anterior fo... OMIM:619736
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Anteverted nares, Flat face OMIM:618154
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short stature, Cachexia, Hypertonia, Short nose ORPHA:1389
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, Spasticity, Gait ataxia, Delayed puberty, Sh... ORPHA:496790
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Ataxia, Microcephaly, Inability to walk, Dysmetria, Spasticity, Oculomotor... OMIM:618087
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Pallister-Hall-Like Syndrome
Short stature, Depressed nasal bridge, Micrognathia, Microcephaly, Hydrocephalus, Hip dislocation... OMIM:241800
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia ORPHA:290
Baraitser-Winter Syndrome 1
Ventriculomegaly, Failure to thrive, Anteverted nares, Short stature, Microcephaly, Postnatal gro... OMIM:243310
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Broad nasal tip, Wide nasal base, Broad columella, Depressed nasal tip, Flat face, Mi... ORPHA:488434
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Microcephaly, Micrognathia, Delayed puberty ORPHA:2598
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow nasal bridge, Mandibular prognathia, Narrow face, Severe short stature, Microcephaly, Larg... ORPHA:2511
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... ORPHA:95512
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Short nose, Flat face OMIM:122880
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Anteverted nares, Depressed nasal bridge, Short stature, Microgna... OMIM:268310
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Delayed cranial suture closure, Craniosynostosis, Cryptorchidism, Hydrocephalus, Wid... OMIM:175700
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Fg Syndrome 5
Anteverted nares, Hypospadias, Depressed nasal bridge, Metopic synostosis, Short nose OMIM:300581
Ruijs-Aalfs Syndrome
Short stature, Prominent nasal bridge, Micrognathia, Bulbous nose, Elbow flexion contracture, Ost... OMIM:616200
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Microcephaly, Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Dispropo... OMIM:259410
Monosomy 22
Wide nose, Aplasia of the thymus, Microcephaly, Contractures of the large joints, Prominent nasol... ORPHA:96123
Blepharocheilodontic Syndrome 2
Flat face, Facial asymmetry OMIM:617681
Al Kaissi Syndrome
Torticollis, Broad-based gait, Depressed nasal bridge, Short stature, Broad nasal tip, Postnatal ... OMIM:617694
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Broad-based gait, Congenital hip dislocatio... OMIM:614450
Teebi Hypertelorism Syndrome 1
Natal tooth, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Short stature, ... OMIM:145420
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Narrow face, External genital hypoplasia, Micrognathia, Generalized joint laxity, Hyp... ORPHA:251028
Three M Syndrome 3
Short stature, Anteverted nares, Small for gestational age, Microcephaly, Growth delay, Decreased... OMIM:614205
Autosomal Dominant Omodysplasia
Bifid scrotum, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislo... ORPHA:93328
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... ORPHA:763
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, External genital hypoplasia, Elevated circulating creatine kinase concentration, Micr... ORPHA:329178
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Microcephaly, Flexion contracture, Hyperextensibility at wrists, Spasticity,... ORPHA:544503
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Carious teeth, Cryptorchidism, Hydrocephalus, Abnormality of the... ORPHA:2701
Ogden Syndrome
Microretrognathia, Torticollis, Coarse facial features, Delayed cranial suture closure, Underdeve... ORPHA:276432
Coffin-Siris Syndrome 6
Coarse facial features, Short stature, Depressed nasal bridge, Micrognathia, Broad nasal tip, Att... OMIM:617808
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Limited elbow movement, Hip dislocation, Neonatal short-trunk short stature, Flat ... OMIM:183900
Tetrasomy 12P
Delayed eruption of teeth, Coarse facial features, Anteverted nares, Short stature, Cachexia, Joi... ORPHA:884
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... OMIM:259600
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Cognitive impairment, Broad face, Metopic synostosis, Short nose, Failure to th... OMIM:613735
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus, Epiphyseal stippling, I... ORPHA:1914
Bainbridge-Ropers Syndrome
Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finger, Hypertonia, Ch... OMIM:615485
Distal 17P13.1 Microdeletion Syndrome
Triangular face, Prominent nasal bridge, Limited elbow movement, Microcephaly, Generalized joint ... ORPHA:319171
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge, Micrognathia ORPHA:261120
Hennekam Syndrome
Delayed eruption of teeth, Mild postnatal growth retardation, Depressed nasal bridge, Camptodacty... ORPHA:2136
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Adenylosuccinase Deficiency
Prominent metopic ridge, Anteverted nares, Microcephaly, Inability to walk, Spasticity, Opisthoto... OMIM:103050
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Nabais Sa-De Vries Syndrome, Type 2
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Micrognathia, F... OMIM:618829
Marbach-Rustad Progeroid Syndrome
Triangular face, Short stature, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Re... OMIM:619322
Campomelic Dysplasia
Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Patellar hypoplasia, Sex re... OMIM:114290
Absent Eyebrows And Eyelashes With Mental Retardation
Progressive spastic quadriplegia, Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Progressive neurologic deterioration, Micrognathia, Aki... OMIM:608013
Partington Syndrome
Lower limb spasticity, Flexion contracture, Triangular face, Camptodactyly OMIM:309510
Silver-Russell Syndrome 2
Short stature, Delayed closure of the anterior fontanelle, Micrognathia, Intrauterine growth reta... OMIM:618905
Xq12-Q13.3 Duplication Syndrome
Depressed nasal bridge, Short stature, Elevated circulating creatine kinase concentration, Impair... ORPHA:314389
Menke-Hennekam Syndrome 2
Narrow nasal bridge, Square face, Depressed nasal bridge, Micrognathia, Recurrent upper respirato... OMIM:618333
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration, Micrognathia, Congenital contracture, Seconda... OMIM:615042
Mandibuloacral Dysplasia With Type B Lipodystrophy
Wormian bones, Narrow nasal ridge, Micrognathia, Hyperlipidemia, Flexion contracture, Hypoplasia ... OMIM:608612
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Craniosynostosis, ... OMIM:614114
Desmosterolosis
Increased bone mineral density, Severe short stature, Depressed nasal bridge, Failure to thrive, ... ORPHA:35107
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Microcephaly, Hypoplastic nipples, Flat face, Dandy-Walker ... OMIM:156610
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Coarse facial features, Anteverted nares, Micrognathia, Precocious puberty, Microcephaly, Delayed... OMIM:619356
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Obesity, Short nose, Low hanging columella OMIM:617752
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Short stature, Microcephaly, Long nose, Gait disturbance, Abnormal facial shape, Triangular face,... ORPHA:85329
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Postnatal growth retardation, Large fontanelles, Hyperostosis, Ab... ORPHA:73230
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Joint dislocation, Severe short stature, Anteverted nares, Thick nasal alae,... ORPHA:3051
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Round face, Bulbous nose, Wide nasal bridge, Attention deficit hyperactivity disorder, Mild short... OMIM:620292
Silver-Russell Syndrome
Abnormality of male external genitalia, Triangular face, Hypospadias, Short stature, Cachexia, Mi... ORPHA:813
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Disproportionate short-limb short stature, Short... OMIM:618618
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Triangular face, Hypospadias, Joint hypermobility, Prominent nasal bridge, Joint stiffness, Long ... OMIM:619184
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Depressed nasal bridge, Cryptorchidism, Growth delay, Flat face, Shawl scrotum, Sh... OMIM:601353
Silver-Russell Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Mi... OMIM:180860
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed... OMIM:277440
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Micrognathia, Precocious puberty, Cryptorchidism, Microcephaly, Attention d... OMIM:619243
Ohdo Syndrome
Joint laxity, Small scrotum, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathi... OMIM:249620
12Q14 Microdeletion Syndrome
Wide nose, Short stature, Prominent nasal bridge, Micrognathia, Tremor, Microcephaly, Osteopoikil... ORPHA:94063
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... ORPHA:97278
Fetal Alcohol Syndrome
Narrow face, Short stature, Anteverted nares, Joint stiffness, Micrognathia, Microcephaly, Cognit... ORPHA:1915
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Round face, Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infection... OMIM:614069
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Truncal obe... OMIM:209900
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growt... OMIM:300749
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Inabi... OMIM:617802
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Triangular face, Short stature, Recurrent fractures, Dentinogenes... OMIM:614856
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Round face, Anteverted nares, Narrow nasal ridge, Broad nasal tip, ... OMIM:137550
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Tarsal synostosis, Micrognathia, Metatarsal synostosis, Retrognathia, Fla... ORPHA:2756
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Micrognathia, Hydrocephalus, Retrognathia, Short nose, Thick nasal alae, Dandy-... ORPHA:163961
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Anterior pituitary hypoplasia, Reduced circulating prol... OMIM:613038
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Wormian bones, Convex nasal ridge, Narrow nasal ridge, Joint stiffness, P... OMIM:248370
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short... ORPHA:950
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ataxia, Supernumerary nipple, Facial asymmetry, Wide anterior fontane... ORPHA:457279
Ayme-Gripp Syndrome
Mandibular prognathia, Depressed nasal bridge, Short stature, Wide nasal bridge, Radioulnar synos... OMIM:601088
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Short stature, Joint hyperflexibility, Short n... ORPHA:166272
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arthrogryposis ... ORPHA:2771
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tetraparesis, Ventriculomegaly, Shawl scrotum ORPHA:85277
Cole-Carpenter Syndrome 1
Osteopenia, Communicating hydrocephalus, Short stature, Recurrent fractures, Micrognathia, Hydroc... OMIM:112240
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Short stature, Elevated circulating growth hormone concentratio... OMIM:608747
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Mandibular prognathia, Waddling gait, Long face, Rhizomelia, Small for gestational ag... OMIM:614813
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Triangular face, Short stature, Joint stiffness, Micrognathia, Bulbous n... ORPHA:2496
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Severe short stature, Micrognathia, Hip subluxation, Delayed proximal femoral epiph... OMIM:271640
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Opisthotonus, Ch... OMIM:269150
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Coarse facial features, Micrognathia, Rigidity, Babinski sign, Abno... OMIM:617527
Sialidosis Type 2
Splenomegaly, Corneal opacity ORPHA:87876
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Ring Chromosome 7 Syndrome
Mandibular prognathia, Hypospadias, Anteverted nares, Prominent nasal bridge, Short stature, Micr... ORPHA:1449
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Waddling gait, Wormian bones, Short stature, Isosexual precocious puber... ORPHA:2788
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Depressed nasal bridge, Anteverted nares, Ataxia, Large for gestational age, Babinski... OMIM:615398
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Failure to thrive, Hypospadias, Short stature, Un... ORPHA:2315
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Narrow nasal ridge, Underdeveloped nasal alae, Cryptorchidism, Flexion contracture, O... OMIM:614438
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Depressed nasal bridge, Bulbous nose, Poor coordination, Obesity, Spasticity, Short nose,... OMIM:618430
Sotos Syndrome
Joint laxity, Mandibular prognathia, Narrow face, Triangular face, Depressed nasal bridge, Anteve... OMIM:117550
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Unilateral cryptorchidism, Anterior pituitary hy... OMIM:613457
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali... ORPHA:970
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Pain insensitivity, Congenital hip dislocation, Depressed nasa... OMIM:616007
Intellectual Developmental Disorder With Neuropsychiatric Features
Depressed nasal bridge, Triangular face OMIM:617532
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... ORPHA:97261
Microphthalmia With Limb Anomalies
Failure to thrive, Unilateral cryptorchidism, Depressed nasal bridge, Postnatal growth retardatio... OMIM:206920
Mulchandani-Bhoj-Conlin Syndrome
Severe short stature, Retrognathia, Intrauterine growth retardation, Failure to thrive, Triangula... OMIM:617352
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... OMIM:151100
Larsen Syndrome
Joint laxity, Vertebral fusion, Depressed nasal bridge, Short stature, Elbow dislocation, Cryptor... OMIM:150250
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Short stature, Joint stiffness, Micrognathia, Cryptorchidi... ORPHA:2510
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Triangular face, Prominent nasal bridge, Microcephaly, Carious teeth, Genu... ORPHA:1110
Meier-Gorlin Syndrome 3
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Patellar hypoplasia, Micropenis, Genu var... OMIM:613803
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Coarse facial features, Decreased response to growth hormone stimulation test,... ORPHA:485405
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93476
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Fetal Trimethadione Syndrome
Depressed nasal bridge, Hypospadias, Micrognathia, Microcephaly, Ambiguous genitalia, Intrauterin... ORPHA:1913
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short stature, Small for gestational age, Spastic tetraparesis, Hypoplasia of the maxi... OMIM:614261
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... OMIM:259440
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... OMIM:300863
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Microcephaly, Hydrocephalus, Absent nasal septal c... OMIM:610828
Donnai-Barrow Syndrome
Depressed nasal bridge, Wide anterior fontanel, Bicornuate uterus, Abnormality of the uterus, Sho... ORPHA:2143
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Small for gestational age, Micrognathia, Postnatal growth retardation... ORPHA:397590
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Wide nose, Ventriculomegaly, Hypospadias, Anteverted nares, Depressed nasal bridge... OMIM:257300
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Large for gestational age, Cryptorchidism, Wide anterior font... OMIM:616638
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Short stature, Ataxia, Microcephaly, Cryptorchidism, Li... ORPHA:2719
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Short nose ORPHA:2547
Yuan-Harel-Lupski Syndrome
Joint laxity, Wide nose, Broad-based gait, Unsteady gait, Distal sensory impairment, Gait ataxia,... OMIM:616652
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Depressed nasal bridge, Hypospadias, Short stature, Micrognathia, Carious teeth, C... OMIM:616734
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short stature, Convex nasal ridge, Micrognathia, Hyperlipidemia, Large fontanelles, O... ORPHA:90154
Phosphoribosylpyrophosphate Synthetase Superactivity
Triangular face, Depressed nasal bridge, Hypospadias, Short stature, Ataxia, Small for gestationa... OMIM:300661
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Decreased response to growth... OMIM:615866
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose, Mandibular prognathia, Joint hypermobility OMIM:300143
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ... OMIM:613805
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Severe short-limb dwarfism, Flat face, Mesomelic/rhizomelic limb shortening ORPHA:2347
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased testicular size OMIM:619321
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Patchy osteosclero... OMIM:241410
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Lower limb spasticity, Round face, Depressed nasal bridge, Anteverted nare... OMIM:300912
Peroxisome Biogenesis Disorder 13A (Zellweger)
Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Conjugated hype... OMIM:614887
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hydroc... OMIM:101600
Tetrasomy 18P
Short nose, Microcephaly, Gait disturbance, Facial asymmetry ORPHA:3307
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Limited elbow extension and supination, Anteverted nares, Depressed na... OMIM:180700
Tenorio Syndrome
Osteopenia, Joint laxity, Wide nose, Mandibular prognathia, Anteverted nares, Cerebral palsy, Del... OMIM:616260
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Joint stiffness, Anosmia, Genu... ORPHA:1295
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Triangular face, Short stature, Recurrent fractures, Protrusio acetabul... OMIM:610968
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Kyphomelic Dysplasia
Depressed nasal bridge, Micrognathia, Disproportionate short stature, Limitation of joint mobilit... OMIM:211350
Arthrogryposis, Distal, Type 2B3
Short stature, Triangular face, Camptodactyly OMIM:618436
Femoral-Facial Syndrome
Short stature, Micrognathia, Cryptorchidism, Long penis, Radioulnar synostosis, Short nose, Ventr... ORPHA:1988
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Cryptorchidism, Wid... ORPHA:401935
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Depressed nasal bridge, Micrognathia, Tremor, Microcephaly, Bulbous nose, Wid... OMIM:617061
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Microcephaly, Hip dislocation, Abnormal facial shape, Short nose, Failure... OMIM:608776
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Joint hyperflexibility, Osteoarthritis, Short nose ORPHA:90653
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Round face, Depressed nasal bridge, Ataxia, Cryptorchidism, Bulbous nose, Triangular face OMIM:616789
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint laxity, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Bulbous nose, Wide nasa... OMIM:620098
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Depressed nasal bridge, Short stature, Patchy osteoscler... ORPHA:2323
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Micrognathia, Tremor, Gait ataxia, Eruption failure, Secondary microcephaly, Atten... ORPHA:476126
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Trisomy 10P
Absent gallbladder, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Poor motor co... ORPHA:171929
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Branchioskeletogenital Syndrome
Mandibular prognathia, Absent nipple, Depressed nasal bridge, Craniosynostosis, Absent external g... ORPHA:1299
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Microcephaly, Postnatal growth retardation, Hip dislocation, Wormian bo... OMIM:616603
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Micrognathia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Short nose OMIM:256600
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Narrow face, Advanced eruption of teeth, Sh... OMIM:614753
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Failure to thrive, Short stature, Microcephaly, Hip dislocation, Wide nasal bridge, I... OMIM:618005
Alpha-Mannosidosis
Splenomegaly, Cataract, Corneal opacity ORPHA:61
Warburg Micro Syndrome 2
Small scrotum, Prominent nasal bridge, Microcephaly, Postnatal growth retardation, Cryptorchidism... OMIM:614225
Halperin-Birk Syndrome
Micrognathia, Inability to walk, Flexion contracture, Hip dislocation, Spastic tetraplegia, Colpo... OMIM:618651
C Syndrome
Fused sternal ossification centers, Anteverted nares, Short stature, Micrognathia, Microcephaly, ... OMIM:211750
3Q29 Microdeletion Syndrome
Narrow face, Hypospadias, Prominent nasal bridge, Facial asymmetry, Microcephaly, Joint hyperflex... ORPHA:65286
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Short attention span, Short stature, Ataxia, Prominent nose, Postnatal gro... OMIM:156200
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Appendicular spasticity, Narrow face, Micrognathia, Wide nasal bridge, Obesity, Hypoplasia of tee... OMIM:620250
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Antley-Bixler Syndrome
Anteverted nares, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness... ORPHA:83
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short stature, Limitation of joint mobility, Disproportionate short-trunk short... ORPHA:93315
Bartsocas-Papas Syndrome
Underdeveloped nasal alae, Micrognathia, Microcephaly, Popliteal pterygium, Hypoplastic male exte... ORPHA:1234
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Failure to thrive, Coarse facial features, Prominent metopic ridge, Prominent nose, Lo... ORPHA:2995
Lymphangiectasia, Pulmonary, Congenital
Mild postnatal growth retardation, Flat face, Depressed nasal bridge, Wide nasal bridge OMIM:265300
Mevalonic Aciduria
Short stature, Ataxia, Failure to thrive in infancy, Underdeveloped nasal alae, Elevated circulat... OMIM:610377
Fetal Hydantoin Syndrome
Bifid scrotum, Short stature, Microcephaly, Cryptorchidism, Depressed nasal ridge, Abnormality of... ORPHA:1912
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Short stature, Microcephaly, Bab... OMIM:309400
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Short stature, Micrognathia ORPHA:1514
Mandibuloacral Dysplasia
Hypertriglyceridemia, Delayed cranial suture closure, Micrognathia, Postnatal growth retardation,... ORPHA:2457
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Rhombencephalosynapsis
Microretrognathia, Anteverted nares, Ataxia, Hydrocephalus, Abnormality of the uterus, Short nose... ORPHA:59315
Hennekam-Beemer Syndrome
Wide nose, Short stature, Camptodactyly of finger, Delayed cranial suture closure, Micrognathia, ... ORPHA:2135
Non-Distal Duplication 13Q
Microcephaly, Micrognathia, Cryptorchidism, Cognitive impairment, Short nose ORPHA:1702
Saethre-Chotzen Syndrome
Short stature, Delayed cranial suture closure, Long nose, Hypoplasia of the maxilla, Cleft of chi... OMIM:101400
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Microcephaly, Bulbous nos... ORPHA:261144
Macrocephaly/Autism Syndrome
Joint laxity, Short attention span, Speech apraxia, Depressed nasal bridge, Penile freckling, Lar... OMIM:605309
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Triangular face, Gait ataxia OMIM:617120
Scheie Syndrome
Corneal opacity OMIM:607016
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... OMIM:608022
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Depressed nasal bridge, Choan... OMIM:259775
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Depressed nasal bridge, Short stature, Microg... ORPHA:7
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Spastic tetraparesis, Microcephaly, Wide nasal bridge, Sho... OMIM:619179
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short stature, Genu recurvatum, Reduced bone mineral density, Joint hyperflexib... ORPHA:1185
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Ventriculomegaly, Hypospad... ORPHA:261494
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Depressed nasal bridge, Anteverted nares, Short ... OMIM:612921
Ocular Cystinosis
Corneal crystals ORPHA:411641
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Triangular face, Hip dislocation, Camptodactyly OMIM:618435
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose, Lat... OMIM:614105
Trisomy 18
Microretrognathia, Narrow face, Short stature, Choanal atresia, Camptodactyly of finger, Cachexia... ORPHA:3380
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Abnormal ... ORPHA:2298
Short Syndrome
Joint laxity, Delayed eruption of teeth, Small for gestational age, Underdeveloped nasal alae, Mi... OMIM:269880
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Short stature, Micrognathia, Microcephaly, Wide nasal bridge, Growth delay,... OMIM:270450
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Hypertonia, Anteverted nares, Obesity OMIM:619854
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Short stature, Micrognathia, Microcephaly, Cryptorchidism, W... ORPHA:251071
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Failure to thrive, Recurrent fractures, Pro... OMIM:601812
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... ORPHA:95717
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Micrognathia, Rigidity, Mi... ORPHA:521426
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Microcephaly, Cryptorchidism, Bulbous nose, Wide nasal bridge, Spastic... OMIM:615803
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Coarse facial features, Flat face, Joint stiffness ORPHA:584
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocep... OMIM:617822
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat face, Micrognathia ORPHA:2001
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bon... ORPHA:371428
Meier-Gorlin Syndrome 6
Microretrognathia, Severe short stature, Anteverted nares, Decreased response to growth hormone s... OMIM:616835
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Babinski sign, Wide nasal bridge, Spasticity, Secondary microcephaly, Short nose OMIM:618437
Legius Syndrome
Triangular face, Attention deficit hyperactivity disorder, Micrognathia OMIM:611431
Craniosynostosis 6
Delayed cranial suture closure, Craniosynostosis, Microcephaly, Lateral ventricle dilatation, Rig... OMIM:616602
Pycnodysostosis
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Delayed erupt... OMIM:265800
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Kaufman Oculocerebrofacial Syndrome
Ventriculomegaly, Narrow face, Depressed nasal bridge, Anteverted nares, Short stature, Micrognat... OMIM:244450
Partington Syndrome
Macroorchidism, Lower limb spasticity, Gait disturbance, Triangular face ORPHA:94083
Renal And Mullerian Duct Hypoplasia
Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth ret... OMIM:266810
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Thick nasal alae, Proportionate short stature, Broad nasal tip, P... ORPHA:79345
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Recurrent fractures, Multiple prenatal fractures, Absent ossification ... OMIM:166210
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal thumb joint contractur... OMIM:613870
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Craniosynostosis, Maxillozygomatic hypoplasia, Choanal stenosis, Cognitive impa... ORPHA:1790
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Round face, Short stature, Tarsal synostosis, Micrognathia, Hypo... ORPHA:363417
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hydrocephalus, Hypoplastic nipples, Neonatal death, Ambiguous genitalia, Intrauterin... OMIM:269860
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Depressed nasal bridge, Neonatal hyperbilirubinemia, Delayed cranial ... ORPHA:90674
Transaldolase Deficiency
Depressed nasal bridge, Small for gestational age, Wide anterior fontanel, Intrauterine growth re... OMIM:606003
Ruvalcaba Syndrome
Microcephaly, Cryptorchidism, Abnormality of the elbow, Delayed puberty, Intrauterine growth reta... ORPHA:3121
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coarse facial features, Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip,... OMIM:300232
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Bulbous nose, Attention deficit hyperactivity disorder, ... ORPHA:284169
Schimke Immunoosseous Dysplasia
Osteopenia, Waddling gait, Depressed nasal bridge, Small for gestational age, Bilateral cryptorch... OMIM:242900
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Reduced bone mineral density, Genu valgum, Hypogonadism, Shor... ORPHA:2983
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Long nose, Postnatal growth retardation, Bulbous nose, Colpocephaly, Secondary mic... OMIM:620113
Arthrogryposis, Distal, Type 5
Short stature, Limited wrist extension, Hypertonia, Distal arthrogryposis, Congenital finger flex... OMIM:108145
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Anteverted nares, Hypospadias, Depressed nasal bridge, Prominent nose, Cryptorchidism, Wide nasal... OMIM:618316
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Hypertonia, Primary microcephaly, S... OMIM:618828
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge, Penile freckling, Attention deficit hyperactivity disorder ORPHA:210548
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad nasal tip, Microcephaly, Wide nasal bridge, Growth delay, Left unicoronal synostosis, Short... OMIM:614749
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Short stature, Limited elbow movement, Joint stiffness, ... OMIM:614008
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Short stature, Elevated circulating creatine kinase concent... OMIM:604173
Camptodactyly Syndrome, Guadalajara, Type Iii
Torticollis, Retrognathia, Camptodactyly, Micropenis, Joint contracture of the hand, Flat face OMIM:611929
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short stature, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet... OMIM:170390
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Ataxia, Underdeveloped nasal alae, Carious teeth, Parapare... OMIM:164200
Diamond-Blackfan Anemia 8
Growth delay, Short nose, Short stature, Wide nasal bridge OMIM:612563
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Au-Kline Syndrome
Failure to thrive, Prominent metopic ridge, Wide nasal ridge, Craniosynostosis, Supernumerary nip... OMIM:616580
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Communicating hydrocephalus, Mandibular prognathia, Prominent nasal bridge, Large f... ORPHA:457359
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Depressed nasal ridge, Intrauterine growt... ORPHA:163966
Andersen-Tawil Syndrome
Joint laxity, Periodic hyperkalemic paralysis, Abnormality of dental color, Short stature, Microg... ORPHA:37553
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Short stature, Narrow nose, Long nose, Cryptorchidism, Carious teeth, Camptodactyly,... OMIM:617602
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Coarse facial features, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Limited elbow... ORPHA:508533
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Short nose, Depressed nasal bridge, Short stature ORPHA:2835
Cockayne Syndrome B
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Micropenis, Ataxia, ... OMIM:133540
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Trisomy 20P
Round face, Incoordination, Hypospadias, Camptodactyly of finger, Anteverted nares, Micrognathia,... ORPHA:261318
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Short nose, Persistent open anterior fontanelle, Camptodactyly OMIM:615539
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Clonus, Hypertonia, Micropenis, Abnormal facial shape, Intention tremor, Joint lax... OMIM:619475
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Ventriculomegaly ORPHA:228384
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Rhizomelia, Triangular face, Thin bony cortex OMIM:619638
X-Linked Mandibulofacial Dysostosis
Short stature, Prominent nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Hypoplasia of ... ORPHA:1131
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Short stature, Microcephaly OMIM:300887
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Microcephaly, Hydrocephalus, Wide nasal bridge, Hydroce... OMIM:613603
Cadds
Micrognathia, Increased circulating very long-chain fatty acid concentration, Intrauterine growth... ORPHA:369942
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Anteverted nares, Camptodactyly of finger, Abnormal d... ORPHA:2710
Brachydactyly, Type B1
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Camptodactyly, Mic... OMIM:113000
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Square face, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ... OMIM:618332
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip... ORPHA:1812
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Delayed closure... ORPHA:2962
Congenital Disorder Of Glycosylation, Type Ig
Wide nose, Small scrotum, Hypospadias, Rhizomelia, Small for gestational age, Cryptorchidism, Rec... OMIM:607143
Paganini-Miozzo Syndrome
Mandibular prognathia, Hyperalaninemia, Lateral ventricle dilatation, Triangular face OMIM:301025
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Short stature, Micrognathia, Long nose, Underdev... OMIM:257850
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short stature, Anteverted nares, Wide nasal bridge, Short nose, Failure t... OMIM:616430
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Delayed cranial suture closure, Persistence of primary teeth, Postnatal growth ret... ORPHA:93325
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Ventriculomegaly, Hypospadias, Depressed nasal bridge, Craniosynostosi... OMIM:309590
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Coarse facial features, Hypertonia, Secondary microcephaly, Short nose, Failu... ORPHA:50810
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Hypospadias, ... OMIM:166250
3M Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Anteverted nares, Hypospadias, Short statu... ORPHA:2616
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Loss ... ORPHA:666
Craniometadiaphyseal Dysplasia
Osteopenia, Natal tooth, Mandibular prognathia, Short stature, Carious teeth, Wide anterior fonta... OMIM:269300
Gapo Syndrome
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fonta... OMIM:230740
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Cryptorchidism... OMIM:619005
Peho Syndrome
Short nose, Retrognathia, Myoclonus, Progressive microcephaly OMIM:260565
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Recurrent fractures, Sh... ORPHA:1452
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Short attention span, Failure to thrive, Anteverted nares, Depressed nasal bridge, ... OMIM:613563
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... OMIM:151050
Distal Deletion 3P
Short stature, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Cognitive impairment... ORPHA:1620
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Micrognathia, Wide nasal bridge, Wormian bon... OMIM:617952
Marshall-Smith Syndrome
Large sternal ossification centers, Bilateral cryptorchidism, Hypertonia, Choanal stenosis, Micro... OMIM:602535
Craniosynostosis 4
Ectopic posterior pituitary, Depressed nasal bridge, Sagittal craniosynostosis, Diminished abilit... OMIM:600775
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Microcephaly, Spastic tetraplegia, Opisthotonus, Growth delay, Hypertonia, Myocloni... OMIM:252160
Cystic Echinococcosis
Ovarian cyst, Hyperbilirubinemia, Abnormality of the testis size, Weight loss ORPHA:400
Sialidosis Type 1
Splenomegaly, Cataract, Corneal opacity ORPHA:812
Toluene Embryopathy
Short stature, Micrognathia, Microcephaly, Cryptorchidism, Hypoplasia of the zygomatic bone, Shor... ORPHA:1920
Coffin-Siris Syndrome
Joint laxity, Delayed eruption of teeth, Dandy-Walker malformation, Coarse facial features, Antev... ORPHA:1465
Hyperparathyroidism, Transient Neonatal
Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Wide cranial sutures, Anteverted na... OMIM:618188
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... ORPHA:95716
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Athetosis, Delayed ossi... OMIM:239300
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Short stature, Depressed nasal bridge, Micrognathia, Flat face, Joint ... OMIM:300990
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Bulbous... ORPHA:364577
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Even-Plus Syndrome
Bifid nasal tip, Short nose, Severe short stature, Depressed nasal ridge OMIM:616854
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Depressed nasal bridge, Long nose, Hydrocephalus, Spasticity, Short nose, Joint hyper... OMIM:618590
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Baller-Gerold Syndrome
Narrow nasal bridge, Narrow face, Short stature, Prominent nasal bridge, Failure to thrive in inf... ORPHA:1225
Jacobsen Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism... OMIM:147791
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Colpocephaly, Short nose, Ventriculomegaly OMIM:618619
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Depressed nasal bridge, Short stature, Craniosynostosis, Microcephaly, Short nose, Li... OMIM:616723
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Triangular face, Congenital finger flexion contractures, Joint stiffness ORPHA:1154
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Rhizomelia, Small for gestatio... OMIM:616229
Ohdo Syndrome, X-Linked
Coarse facial features, Small scrotum, Depressed nasal bridge, Prominent nose, Micrognathia, Cryp... OMIM:300895
Meckel Syndrome, Type 8
Ambiguous genitalia, Short nose, Depressed nasal ridge, Microcephaly OMIM:613885
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99226
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Short attention span, Enlarged joints, Anteverted nares, Short stature, Micr... OMIM:601358
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:881
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Wide nose, Coarse facial features, Hypospadias, Anteverted nares, Short... OMIM:102500
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia OMIM:614744
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadi... ORPHA:177907
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short stature, Microcephaly, C... ORPHA:261236
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Diminished ability to concentrate, Triangular face OMIM:619264
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Coarse facial features, Depressed nasal brid... OMIM:115150
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Delayed closure... ORPHA:2834
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Failure to thrive, Anteverted nares, Micrognathia, Microcephaly, Crypt... OMIM:247200
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Fused cervica... OMIM:609053
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Opsismodysplasia
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Joint stiffness, Lar... ORPHA:2746
Khan-Khan-Katsanis Syndrome
Short stature, Delayed closure of the anterior fontanelle, Micrognathia, Microcephaly, Short nose... OMIM:618460
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Micrognathia, Hip dislocatio... ORPHA:2484
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short stature, Underdeveloped nasal alae, Hypertonia, Short nose, Ventriculomegaly ORPHA:2031
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, Anteverted nar... ORPHA:536467
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Failure to thrive, Anteverted nares, Microcephaly, Cryptorchidism, Obesity, ... ORPHA:96147
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Dental malocclusion, Wide nasal bridge, Attention deficit hyperactivity dis... OMIM:619149
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, Moon facies, Thick nasal alae, Broad columella, Anteverted... OMIM:619950
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Prominent nasal bridge, Narrow nasal ridge, Craniosynost... OMIM:616914
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Short stature, Inability to walk, Bulbous nose, Wide nasal bridge, Gait distur... OMIM:618571
Sifrim-Hitz-Weiss Syndrome
Coarse facial features, Wormian bones, Hypogonadotropic hypogonadism, Short stature, Cryptorchidi... OMIM:617159
Pterygium Colli, Isolated
Short nose OMIM:177990
Stuve-Wiedemann Syndrome 1
Square face, Enlarged joints, Anteverted nares, Short stature, Micrognathia, Carious teeth, Impai... OMIM:601559
20Q13.33 Microdeletion Syndrome
Hypospadias, Decreased scrotal rugation, Small for gestational age, Failure to thrive in infancy,... ORPHA:261311
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Anteverted nares, Short stature, Anterior open-bite malocclusion, Short nose OMIM:617877
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Micropeni... ORPHA:268261
Lathosterolosis
Hypoplasia of penis, Prominent metopic ridge, Anteverted nares, Micrognathia, Microcephaly, Bulbo... ORPHA:46059
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Recurrent joint dislocation, Craniosynostosis, Dysesthesia, Cryptorchidism, Ge... ORPHA:2953
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Cole-Carpenter Syndrome
Communicating hydrocephalus, Delayed eruption of teeth, Short stature, Recurrent fractures, Abnor... ORPHA:2050
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Acrofacial Dysostosis, Catania Type
Microretrognathia, Hypospadias, Short stature, Microcephaly, Carious teeth, Cryptorchidism, Hypop... ORPHA:1786
Dermotrichic Syndrome
Short nose, Depressed nasal bridge, Proportionate short stature ORPHA:99688
Nablus Mask-Like Facial Syndrome
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, Cryptorchi... OMIM:608156
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Pain insensitivity, Broad-based gait, Anteverted nares, Prominent nasal bridge, S... OMIM:617330
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteverted nares, Hypospadias, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism... OMIM:217980
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Dubowitz Syndrome
Delayed eruption of teeth, Short attention span, Hypospadias, Prominent nasal bridge, Short statu... OMIM:223370
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Hypospadias, Camptodactyly of finger, Tarsal s... ORPHA:90652
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Decrea... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Decreased fe... OMIM:608594
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Micrognathia, ... ORPHA:314655
Distal Deletion 15Q
Coarse facial features, Hypospadias, Short stature, Small for gestational age, Broad nasal tip, P... ORPHA:1596
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Noonan Syndrome 14
Coarse facial features, Short stature, Prominent nasal bridge, Cryptorchidism, Prominent nasolabi... OMIM:619745
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Delayed cranial suture closure, Micrognathia ORPHA:1129
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Wide nose, Broad-based gait, Failure to thrive in infancy, Distal sensory impairmen... ORPHA:477817
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:96182
Peho Syndrome
Anteverted nares, Microcephaly, Hydrocephalus, Flexion contracture, Limitation of joint mobility,... ORPHA:2836
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Astigmatism, Corneal opacity, Thrombocytopenia OMIM:301056
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Proportionate short stature, Cryptorc... OMIM:227330
Carey-Fineman-Ziter Syndrome
Anteverted nares, Short stature, Micrognathia, Microcephaly, Glandular hypospadias, Growth delay,... ORPHA:1358
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Anteverted nares, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Male ps... ORPHA:2282
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventriculomegaly, Small scrotum, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, ... OMIM:618454
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Failure to thrive, Short stature, Depressed nasal bridge, Overweight, Hydro... OMIM:619575
Chops Syndrome
Round face, Coarse facial features, Anteverted nares, Short stature, Microcephaly, Cryptorchidism... OMIM:616368
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Coarse facial features... OMIM:303600
Cerebrooculonasal Syndrome
Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Postnata... OMIM:605627
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion... ORPHA:1830
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Short nose ORPHA:79113
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Abnormal facial shape, Decreased skull ossification, Hypospadias, Antev... ORPHA:955
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Microcephaly DECIPHER:52
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Van Maldergem Syndrome 2
Osteopenia, Bifid scrotum, Joint laxity, Wide cranial sutures, Hypospadias, Depressed nasal bridg... OMIM:615546
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Round face, Wormian bones, Recurrent fractures, Multiple prenatal fract... OMIM:610915
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Abnormality of the knee, Depressed nasal bridge, Short stature, Craniosynostosis, Mic... ORPHA:457395
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Communicating hydrocephalus, Mandibular prognathia, Prominent nasal bridge, Large f... OMIM:617011
Dubowitz Syndrome
Hypoparathyroidism, Delayed eruption of teeth, Narrow face, Hypospadias, Depressed nasal bridge, ... ORPHA:235
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, S... ORPHA:280200
White-Sutton Syndrome
Joint laxity, Mandibular prognathia, Waddling gait, Depressed nasal bridge, Short stature, Broad ... OMIM:616364
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Opisthotonus, Growth delay... OMIM:252150
Nizon-Isidor Syndrome
Anteverted nares, Hypospadias, Prominent nasal bridge, Depressed nasal bridge, Bulbous nose, Atte... OMIM:618872
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Failure to thrive, Short stature, Elevated circulating creatine kinase concentration, ... OMIM:608779
Hallermann-Streiff Syndrome
Natal tooth, Wormian bones, Small for gestational age, Prominent nasal bridge, Narrow nose, Under... OMIM:234100
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... OMIM:231070
Ulna Hypoplasia-Intellectual Disability Syndrome
Severe short stature, Joint stiffness, Elbow dislocation, Large fontanelles, Delayed cranial sutu... ORPHA:2249
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostosis, Wormian bones, ... OMIM:604757
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior... ORPHA:85184
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Limb joint contracture, Shoulder flexion contracture, Frequent fa... OMIM:620369
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, Epispadias, Elbow ankylosis, Abnormal penis m... ORPHA:2658
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Coarse facial features, Depressed nasal bridge, Anteverted nares, Micrognathia, Tremor, Large for... OMIM:614080
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:93399
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Wide cranial sutures, Hypospadias, Micrognathia, Hypoplasia of the maxi... OMIM:601390
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Advanced tarsal ossification, Flat acetabular roof, Stillb... OMIM:269250
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis... ORPHA:794
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Recurrent fractures, Reduced bone mineral density, Increased suscept... OMIM:166220
Robinow Syndrome, Autosomal Dominant 2
Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Dental mal... OMIM:616331
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Hip dislocation, Radioulnar synostosis, Sho... ORPHA:3258
Trichorhinophalangeal Syndrome Type 1
Short stature, Camptodactyly of finger, Micrognathia, Supernumerary tooth, Bulbous nose, Triangul... ORPHA:77258
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Microcephaly, Multiple prenatal fractures, Bulbous nose, Disproportionate ... OMIM:618644
Alazami Syndrome
Postnatal growth retardation, Wide nose, Triangular face ORPHA:319671
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Ogden Syndrome
Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Hypertonia, Microretrognath... OMIM:300855
Congenital Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Monosomy 9Q22.3
Delayed eruption of teeth, Ovarian fibroma, Large for gestational age, Hydrocephalus, Joint hyper... ORPHA:77301
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Short nose, Depressed nasal bridge, Bicoronal synostosis ORPHA:93258
Witteveen-Kolk Syndrome
Narrow face, Decreased response to growth hormone stimulation test, Male urethral meatus stenosis... OMIM:613406
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Coarse facial features, Short stature, Prominent nose, Microcephaly, Wide nasal bridge, Intrauter... ORPHA:1292
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Cardiofaciocutaneous Syndrome
Coarse facial features, Depressed nasal bridge, Short stature, Anteverted nares, Failure to thriv... ORPHA:1340
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Broad nasal tip, Microcephaly, Inability to walk, Wide nasal bridge, Short nose, D... OMIM:614207
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Hydrocele testis, Intrauterine growth retardation, Congenital adrenal hyper... ORPHA:96181
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Concave nasal ridge, Short nose, Failure to thrive OMIM:170100
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri... OMIM:268400
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Choanal atresia, Short stature, Micrognathia, Microcephaly, Cryp... OMIM:300712
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short stature, Hypogonadotropic hypogonadism, Microcephaly, Unilateral vo... OMIM:301030
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Short stature, Broad nasal tip, Micrognathia, Wide nasal bridge, Camptodactyly,... OMIM:618529
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Multiple Sulfatase Deficiency
Splenomegaly, Cataract, Corneal opacity ORPHA:585
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Hypospadias, Anteverted nares, Depressed nasal bridge, Microcephaly, Postn... OMIM:301040
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hypertriglyceridemia, Depressed nasal bridge, Short stature, Narrow nasal ridge, Join... OMIM:619127
Fibrochondrogenesis 2
Short nose, Anteverted nares, Micrognathia OMIM:614524
White-Kernohan Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Recto... OMIM:619426
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Anteverted nares, Depressed nasal bridge, Micrognathia, Ankylosis, F... OMIM:616503
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Rhizomelia, Bulbous ... OMIM:271510
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Advanced eruption of teeth, L... OMIM:615873
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Micrognathia, Neonatal death, Micropenis, Depressed nasal b... OMIM:612289
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Microcephaly, Hypoplasia of teeth, Growth delay, Short nose, Retrognathia OMIM:234050
Trichothiodystrophy 1, Photosensitive
Short stature, Small for gestational age, Microcephaly, Flexion contracture, Hypogonadism, Short ... OMIM:601675
Toriello-Carey Syndrome
Ventriculomegaly, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Wide... ORPHA:3338
Medulloblastoma
Ataxia, Delayed cranial suture closure, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, ... ORPHA:616
Mosaic Variegated Aneuploidy Syndrome
Wide nose, Ventriculomegaly, Short stature, Vaginal neoplasm, Micrognathia, Microcephaly, Depress... ORPHA:1052
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Short stature, Micrognathia, Joint hyperflexibility, Sh... ORPHA:1974
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Atelis Syndrome 2
Micrognathia, Prominent nose, Microcephaly, Bulbous nose, Dysmetria, Attention deficit hyperactiv... OMIM:620185
Schinzel-Giedion Syndrome
Micrognathia, Vocal cord paralysis, Hypertonia, Choanal stenosis, Micropenis, Streak ovary, Hypos... ORPHA:798
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Short stature, Micrognathia, Microcephaly, Short nose, Progres... OMIM:610536
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Anteverted nares, Small for gestational age, Craniosynostosis, Phimosis, Broad nasal ... ORPHA:363611
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Triangular face, Short stature, Rhizomelia, Micrognathia, Generalized j... OMIM:613848
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Lathosterolosis
Anteverted nares, Bilobate gallbladder, Micrognathia, Microcephaly, Osteoporosis, Wide nasal brid... OMIM:607330
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Coarse facial features, Limitation of joint mobility, Osteoporosis, Larg... OMIM:259100
Zttk Syndrome
Absent gallbladder, Ventriculomegaly, Depressed nasal bridge, Short stature, Craniosynostosis, Hy... OMIM:617140
Orofaciodigital Syndrome Type 4
Joint dislocation, Micrognathia, Depressed nasal ridge, Genu varum, Perineal fistula, Retrognathi... ORPHA:2753
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Bicornuate uterus, Short nose OMIM:222448
Kbg Syndrome
Vertebral fusion, Round face, Anteverted nares, Prominent nasal bridge, Short stature, Underdevel... OMIM:148050
D-Bifunctional Protein Deficiency
Osteopenia, Failure to thrive, Depressed nasal bridge, Delayed cranial suture closure, Micrognath... OMIM:261515
Cree Mental Retardation Syndrome
Bifid scrotum, Hypospadias, Micrognathia, Cryptorchidism, Large fontanelles, Triangular face OMIM:606851
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Short stature, Prominent nose, Micrognathia, Microcephaly, Bulbous nose, ... OMIM:301022
Rubinstein-Taybi Syndrome 1
Premature thelarche, Prominent nose, Bilateral cryptorchidism, Micrognathia, Hypoplasia of the ma... OMIM:180849
16Q24.3 Microdeletion Syndrome
Anteverted nares, Micrognathia, Cryptorchidism, Colpocephaly, Triangular face, Ventriculomegaly, ... ORPHA:261250
Farber Disease
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... ORPHA:333
Pancreatic And Cerebellar Agenesis
Failure to thrive, Triangular face, Joint stiffness, Microcephaly, Flexion contracture, Severe in... OMIM:609069
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Sclerosis of skull ... OMIM:130720
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Small scrotum, Anteverted nares, External ge... ORPHA:97360
Cornelia De Lange Syndrome
Hypoplasia of penis, Micrognathia, Hypertonia, Abnormality of the uterus, Hypospadias, Anteverted... ORPHA:199
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Narrow face, Short stature, Microcephaly, Spastic diplegia, Growth delay, Spasticity, Triangular ... ORPHA:93947
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarse facial features, Short stature, Decreased response to growth hormone stimulation test, Mic... OMIM:617260
Degcags Syndrome
Osteopenia, Prominent nose, Micrognathia, Vocal cord paralysis, Abnormal facial shape, Hypospadia... OMIM:619488
Hartsfield Syndrome
Wide nose, Hypospadias, Craniosynostosis, Microcephaly, Cryptorchidism, Gonadotropin deficiency, ... OMIM:615465
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
15q26 overgrowth syndrome
Mandibular prognathia, Camptodactyly of finger, Craniosynostosis, Prominent nose, Micrognathia, F... DECIPHER:81
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Hypospadias, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Trian... OMIM:619522
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Microretrognathia, Joint dislocation, Delayed cranial suture closure, Dysesthesia, ... OMIM:601776
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Anteverted nares, Decreased response to growth hormone stimulati... OMIM:146510
Frank-Ter Haar Syndrome
Osteopenia, Coarse facial features, Anteverted nares, Depressed nasal bridge, Delayed cranial sut... OMIM:249420
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Limitation of joint ... ORPHA:93259
Wilson Disease
Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia ORPHA:905
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Narrow nasal bridge, Speech apraxia, Long face, Ataxia, Anterior pituitary hypoplas... ORPHA:466791
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Anteverted nares, Broad nasal tip, Capitate... OMIM:272460
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Hypertonia, Hypoplasia of the thymus, Dandy-Walker malformatio... OMIM:264090
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Mohr Syndrome
Depressed nasal bridge, Short stature, Broad nasal tip, Bifid nasal tip, Micrognathia, Hydrocepha... OMIM:252100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Lar... ORPHA:90153
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Growth delay, Abnormal faci... ORPHA:3339
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Round face, Anteverted nares, Choanal atresia, Narrow nose, Spastic tetraparesis, Microcephaly, G... OMIM:301044
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Progressive flexion contractures, Ataxia, Chorea, Athetoid cerebral palsy, Choreoat... ORPHA:522077
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Attention deficit hyperactivity disorder, Abnormal faci... ORPHA:357001
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Short stature, Cachexia, Micrognathia, Joint hyperflexibility, Short... ORPHA:109
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Clonus, Narrow nasal ridge, Babinski sign, Large... OMIM:606721
Opsismodysplasia
Rhizomelia, Depressed nasal bridge, Anteverted nares, Large fontanelles, Flat acetabular roof, Di... OMIM:258480
Atelosteogenesis, Type I
Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Cryptorchidism, Fused cervic... OMIM:108720
Vascular Ehlers-Danlos Syndrome
Narrow nasal bridge, Joint dislocation, Congenital hip dislocation, Hypospadias, Short stature, C... ORPHA:286
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis OMIM:277450
Cystinosis
Corneal opacity ORPHA:213
Osteogenesis Imperfecta, Type Vii
Osteopenia, Round face, Wide cranial sutures, Short stature, Recurrent fractures, Rhizomelia, Pro... OMIM:610682
Trisomy 8P
Multiple joint contractures, Anteverted nares, Depressed nasal bridge, Microcephaly, Cryptorchidi... ORPHA:264450
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short attention span, Failure to thrive, Depressed nasal bridge, Anteverted nares, Short stature,... OMIM:617157
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Choanal atresia, Anteverted nares, Short stature, Micrognathia, Cryptorchidism, Bulb... OMIM:616975
Waardenburg Syndrome Type 1
Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micrognathia, Epispadias, Clitoral hypoplasia, Abnormal penis morphology, Hy... ORPHA:3107
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Coarse facial features, Anteverted nares, Asymmetric crying face, Elevated cir... ORPHA:280633
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Deeah Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:619004
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Narrow face, Prominent metopic ridge, Micrognathia, Cryptorchidism, Jo... ORPHA:2789
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Cleidocranial Dysplasia 1
Increased bone mineral density, Persistent open anterior fontanelle, Depressed nasal bridge, Shor... OMIM:119600
Gm1 Gangliosidosis
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:354
Acrocallosal Syndrome
Mandibular prognathia, Microretrognathia, Hypospadias, Persistence of primary teeth, Postnatal gr... OMIM:200990
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Wide nose, Coarse facial features, Camptodactyly of finger, Micrognathia, ... ORPHA:261337
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Robinow Syndrome, Autosomal Dominant 3
Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Dental mal... OMIM:616894
Williams Syndrome
Osteopenia, Hypoplasia of penis, Narrow face, Elevated circulating creatine kinase concentration,... ORPHA:904
Geleophysic Dysplasia 1
Osteopenia, Round face, Anteverted nares, Camptodactyly of finger, Short stature, Joint stiffness... OMIM:231050
Dend Syndrome
Prominent metopic ridge, Short nose, Anteverted nares, Elevated hemoglobin A1c ORPHA:79134
Stickler Syndrome
Joint dislocation, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Hypopla... ORPHA:828
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Finger join... OMIM:166200
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Rhizomelia... ORPHA:50945
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Disproportionate short-limb short stature, Wormian bones, Join... OMIM:619131
Bartsocas-Papas Syndrome 1
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Underdeveloped nasal alae, Hypopl... OMIM:263650
Woodhouse-Sakati Syndrome
Triangular face, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the... OMIM:241080
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypertonia... ORPHA:3455
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Bulbous nose, ... OMIM:613458
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Ectopic posterior pituitary, Pituitary dwarfism, Hypogonadotropic hyp... ORPHA:226307
Wrinkly Skin Syndrome
Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Short statu... OMIM:278250
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Renpenning Syndrome 1
Mandibular prognathia, Long face, Narrow face, Triangular face, Hypospadias, Short stature, Phimo... OMIM:309500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Torticollis, Hypospadias, Craniosynostosis, Micrognathia, Microcephaly, Cryptorchi... OMIM:609945
Floating-Harbor Syndrome
Enlarged joints, Long nose, Hypoplasia of the maxilla, Dislocated radial head, Hypospadias, Short... ORPHA:2044
Marshall Syndrome
Short stature, Depressed nasal bridge, Anteverted nares, Micrognathia, Knee osteoarthritis, Macro... OMIM:154780
Down Syndrome
Joint laxity, Short stature, Flat face, Shallow acetabular fossae OMIM:190685
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Mandibular prognathia, Triangular face, Anteverted nares, Short stature, Broad nasa... OMIM:617402
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Bilateral cryptorchidism, Bulbous nose, Hip dislocation, Wide nasal bridge, Mi... OMIM:617403
Arboleda-Tham Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Long face, Microretrognathia, Genu varum, Enlarg... OMIM:616268
17Q24.2 Microdeletion Syndrome
Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test... ORPHA:529962
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Slender nose, Triangular face, Convex nasal ridge ORPHA:397695
Hurler Syndrome
Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:607014
Acromesomelic Dysplasia 4
Mandibular prognathia, Rhizomelia, Short stature, Disproportionate short stature, Wide nasal brid... OMIM:619636
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Jacobsen Syndrome
Ventriculomegaly, Anteverted nares, Short stature, Cryptorchidism, Hip dislocation, Wide nasal br... ORPHA:2308
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Limitation of joint mobility, Trach... ORPHA:93260
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Short stature, Small for gestational age, Increased serum prostagla... OMIM:241200
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Osteolytic de... OMIM:309350
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Mandibular prognathia, Pain insensitivity, Small scrotum, Broad-based gait, Narrow ... OMIM:620330
Tangier Disease
Splenomegaly, Opacification of the corneal stroma OMIM:205400
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Vici Syndrome
Wide nose, Failure to thrive, Depressed nasal bridge, Elevated circulating creatine kinase concen... OMIM:242840
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Parietal Foramina 1
Wormian bones OMIM:168500
Menkes Disease
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Microcephaly, Chorea, Osteop... ORPHA:565
Distal Deletion 9P
Hypoplastic labia majora, Short nose, Hypospadias, Wide nasal bridge ORPHA:1642
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Somatic sensory dysfunction, Ataxia, Prominent nose, Spasticity, Triangular face OMIM:615510
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma OMIM:251290
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Progressive ventriculomegaly, Ventriculomegaly, Depressed nasal bridge, Failu... ORPHA:500150
Cdags Syndrome
Hypospadias, Sagittal craniosynostosis, Large fontanelles, Rectovaginal fistula, Lambdoidal crani... OMIM:603116
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, Cryptorchid... OMIM:609942
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Ventriculomegaly, Short nose ORPHA:1394
Fucosidosis
Corneal opacity ORPHA:349
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Micrognathia, Hip subluxation, Wide anterior fontanel, Elbow flexion cont... OMIM:271665
Monosomy 9P
Anteverted nares, Hypospadias, Depressed nasal bridge, Choanal atresia, Micrognathia, Cryptorchid... ORPHA:261112
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Tangier Disease
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly ORPHA:31150
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Round face, Wormian bones, Anteverted nares, Hypospadias, Decreased response to growth hormone st... ORPHA:444077
Phocomelia, Schinzel Type
Hypoplasia of penis, Micrognathia, Cryptorchidism, Humeroradial synostosis, Disproportionate shor... ORPHA:2879
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Coffin-Siris Syndrome 12
Joint laxity, Hypospadias, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge, Unde... OMIM:619325
Feingold Syndrome 1
Anteverted nares, Micrognathia, Microcephaly, Vocal cord paralysis, Wide nasal bridge, Depressed ... OMIM:164280
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
C Syndrome
Joint dislocation, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Failure... ORPHA:1308
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Coarse facial features, Joint stiffness, Inability to walk, Hydrocephalus, Flexion contracture, H... ORPHA:505248
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Micrognat... ORPHA:1507
Floating-Harbor Syndrome
Joint laxity, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, Hypos... OMIM:136140
Alagille Syndrome 2
Long nose, Triangular face OMIM:610205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, External genital hypoplasia, Micrognathia, Hypoplasia of the maxilla, Larg... ORPHA:96334
Congenital Myopathy 17
Mandibular prognathia, Failure to thrive in infancy, Dental malocclusion, Narrow jaw, Distal arth... OMIM:618975
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Microcephaly, Cryptorch... OMIM:227645
Peters Plus Syndrome
Ventriculomegaly, Round face, Hypospadias, Anteverted nares, Depressed nasal bridge, Short statur... ORPHA:709
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... OMIM:158310
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Triangular face, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Joint laxity, Mandibular prognathia, Round face, Prominent metopic ridge, Anteverted nares, Promi... OMIM:612474
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased response to growth horm... OMIM:619503
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity, Eosinophilia ORPHA:464
Femoral-Facial Syndrome
Short stature, Limited elbow movement, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, H... OMIM:134780
Geleophysic Dysplasia 2
Short stature, Joint stiffness, Limitation of joint mobility, Tip-toe gait, Short nose OMIM:614185
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe short stature, Hypospadias, Dislocation of the femoral head, Severe gener... OMIM:210730
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Vocal cord paralysis, Micropenis, Joint laxity, Anteverted nares... OMIM:194050
Aspartylglucosaminuria
Mandibular prognathia, Large face, Coarse facial features, Joint stiffness, Carious teeth, Wide n... ORPHA:93
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Gonadotropin deficiency, Depressed nasal ridge, Micrope... ORPHA:672
Immunodeficiency 49
Wormian bones, Natal tooth, Spastic tetraplegia, Micrognathia OMIM:617237
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis ORPHA:2092
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Hypoplasia of the thymus, Opacification of the corneal stroma OMIM:214110
Tolchin-Le Caignec Syndrome
Micrognathia, Precocious puberty, Prominent nose, Wide nasal bridge, Attention deficit hyperactiv... OMIM:618971
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Obesity, Short nose, Joint hypermobility ORPHA:293948
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Cryptorchidism, Depressed n... OMIM:620005
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Hypospadias, Abnormal dental enamel morphology, Tarsal synostosis, Mi... ORPHA:85199
Yunis-Varon Syndrome
Narrow nasal base, Wide cranial sutures, Absent sternal ossification, Hypospadias, Anteverted nar... ORPHA:3472
Noonan Syndrome With Multiple Lentigines
Hypospadias, Short stature, Cryptorchidism, Wide nasal bridge, Growth delay, Intrauterine growth ... ORPHA:500
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Spasticity, Failure to thrive, Triang... OMIM:616539
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Depressed nasal bridge, Joint stiffnes... ORPHA:1606
Chromosome 17Q12 Duplication Syndrome
Triangular face, Micrognathia OMIM:614526
Arterial Tortuosity Syndrome
Craniosynostosis, Hip dislocation, Joint hyperflexibility, Short nose, Long face ORPHA:3342
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:274000
Peroxisome Biogenesis Disorder 4B
Short nose, Ataxia, Gait disturbance OMIM:614863
Curry-Jones Syndrome
Ventriculomegaly, Unicoronal synostosis, Wormian bones, Bicoronal synostosis, Facial asymmetry OMIM:601707
Okamoto Syndrome
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Bifid uterus, Underdeveloped n... ORPHA:2729
Liver Disease, Severe Congenital
Micrognathia, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... OMIM:619991
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Depressed nasal ridge, Wide na... ORPHA:2211
Mucopolysaccharidosis Type 1
Splenomegaly, Corneal opacity ORPHA:579
Acromesomelic Dysplasia 1
Joint laxity, Short nose, Disproportionate short stature, Limited elbow extension OMIM:602875
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Vertebral fusion, Hypoplasia of penis, Coarse facial features, Hypospadias... ORPHA:373
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Microcephaly, Postnatal growth retardation, Hip disloc... ORPHA:90348
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Hypospadias, Elbow contracture, Depressed nasal bridge, Short stature... OMIM:304120
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... OMIM:175780
Hurler Syndrome
Splenomegaly, Corneal opacity ORPHA:93473
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Triangular face OMIM:225060
Acrocephalopolydactylous Dysplasia
Short nose, Pancreatic fibrosis, Craniosynostosis OMIM:200995
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short stature, Triangular face ORPHA:3218
Mucopolysaccharidosis Type 3
Splenomegaly, Cataract, Corneal opacity, Opacification of the corneal stroma ORPHA:581
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Clumsiness, Hypochloremia, Hypokalemia, Increased circul... ORPHA:89938
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Fryns Syndrome
Corneal opacity ORPHA:2059
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Microcephaly, Wide anterior fontanel, Hip dislocation, Joint ... ORPHA:90349
3Mc Syndrome 3
Corneal opacity OMIM:248340
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Micrognathia, Flexion contracture, Camptodactyly of 2n... OMIM:601803
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anemia ORPHA:324
Carpenter Syndrome 1
Microcornea, Polysplenia, Opacification of the corneal stroma OMIM:201000
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Aplasia/Hypoplastia of the eccr... OMIM:305100
Mucopolysaccharidosis Type 6
Splenomegaly, Opacification of the corneal stroma ORPHA:583
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Anemia ORPHA:79396
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Specc1L-Related Hypertelorism Syndrome
Round face, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Shawl scrotum, Advanced er... ORPHA:1519
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Microcephaly, Cryptorchidism, Obesity, Difficulty walking, Hyposmia, Microp... OMIM:618653
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormian bones, Joint... OMIM:617821
Noonan Syndrome 1
Short stature, Hypospadias, Failure to thrive in infancy, Micrognathia, Postnatal growth retardat... OMIM:163950
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Noonan Syndrome
Hypogonadotropic hypogonadism, Short stature, Micrognathia, Cryptorchidism, Joint hyperflexibilit... ORPHA:648
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Anemia, Lentiglobus, Thrombocy... ORPHA:534
Moebius Syndrome
Corneal opacity ORPHA:570
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Reduced thyroxi... ORPHA:79318
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Abnormality of the sense of smell, L... ORPHA:198
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:306542
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi... ORPHA:2072
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ... OMIM:229400
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Neurofibromatosis Type 1
Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i... ORPHA:636
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Alagille Syndrome 1
Hypertriglyceridemia, Depressed nasal bridge, Long nose, Bulbous nose, Concave nasal ridge, Hyper... OMIM:118450
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy ORPHA:495875
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Diamond-Blackfan Anemia 1
Failure to thrive, Short stature, Micrognathia, Microcephaly, Depressed nasal ridge, Intrauterine... OMIM:105650
Isolated Exencephaly
Hypoplasia of the frontal bone, Depressed nasal bridge, Anterior pituitary hypoplasia, Posterior ... ORPHA:563612
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Gaucher Disease
Pancytopenia, Corneal opacity, Splenomegaly, Anemia, Thrombocytopenia ORPHA:355
Meckel Syndrome
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Wilson Disease
Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia OMIM:277900
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Kindler Epidermolysis Bullosa
Conjunctivitis, Anemia, Corneal opacity ORPHA:2908
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Hunter-Macdonald Syndrome
Hypospadias, Short stature, Premature osteoarthritis, Large fontanelles, Camptodactyly, Cubitus v... OMIM:611962
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Coarse facial features, Anteverted nares, Hypospadias, Supernumerary nippl... OMIM:312870
Yunis-Varon Syndrome
Congenital hip dislocation, Micrognathia, Micropenis, Decreased skull ossification, Absent sterna... OMIM:216340
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Oculoectodermal Syndrome
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma OMIM:600268
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:217093
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Mucopolysaccharidosis Type 2
Splenomegaly, Corneal opacity ORPHA:580
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma 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, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Cystocele, Os... ORPHA:285
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Smith-Lemli-Opitz Syndrome
Cataract, Iris coloboma, Sclerocornea ORPHA:818
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium ORPHA:910
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Megalocornea, Opacification of the corneal stroma OMIM:252500
Fraser Syndrome 1
Corneal opacity OMIM:219000
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Cockayne Syndrome A
Splenomegaly, Cataract, Opacification of the corneal stroma OMIM:216400
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Posterior embryotoxon, An... OMIM:188400
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Penile Agenesis
Depressed nasal bridge, Cryptorchidism, Absent penis, Ambiguous genitalia, Short nose ORPHA:49
Fryns Syndrome
Polysplenia, Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... 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
Tmco1em1(IMPC)J Exon Deletion Mice

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