Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism |
ORPHA:1074 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Hypogonadotropic hypogonadism, Cleft palate, Cryptorchidism |
OMIM:612370 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Bifid uvula, Cleft palate |
OMIM:258320 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Cleft palate, Congenital hypothyroidism |
OMIM:241850 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Decreased testicular size, Cleft palate |
ORPHA:85273 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i... |
OMIM:601349 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Micropenis, Decreased testicular size |
OMIM:614838 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft palate, Cleft upper lip |
OMIM:614402 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Tooth agenesis, High palate, Cleft palate |
ORPHA:1135 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Cleft palate, Congenital hypothyroidism |
ORPHA:1226 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... |
OMIM:614880 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Cleft palate, Cleft upper lip |
OMIM:231060 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Primary amenorrhea, Cleft palate,... |
OMIM:244200 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm... |
ORPHA:2232 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Esophageal atresia, Cryptorchidism, Ventral s... |
ORPHA:95706 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Primary amenorrhea,... |
OMIM:147950 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am... |
ORPHA:1772 |
Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... |
ORPHA:3464 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia |
OMIM:618021 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Cleft palate, Hypoplasia of the ovary, Aplasia of ... |
OMIM:151100 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Hypoplasia of the ovary, ... |
OMIM:619321 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... |
OMIM:618820 |
Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Wide mouth, Bicornuate uterus, Hypoplasia of the ovary... |
ORPHA:79328 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Hypospadias, Abnormality of the g... |
ORPHA:798 |