Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Holoprosencephaly |
|
Hydrocephalus, Macrocephaly, Depressed nasal ridge, Depressed nasal tip, Aplasia/Hypoplasia of th... |
ORPHA:2162 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Hydrocephalus, 11 pairs of ribs, Polymicrogyria, Ventricular septal defect, Me... |
OMIM:264480 |
Microform Holoprosencephaly |
|
Cleft palate, Short philtrum, Ambiguous genitalia, Short nose, Solitary median maxillary central ... |
ORPHA:280200 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Drumstick terminal phalanges, Hydrocephalus, Cleft palate, Ventricular septal defect, Umbilical h... |
OMIM:612938 |
16P13.11 Microdeletion Syndrome |
|
Wide mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, Abnormal... |
ORPHA:261236 |
Trisomy 18 |
|
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Short nose, ... |
ORPHA:3380 |
Sim1-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, S... |
ORPHA:398079 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Magel2-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, I... |
ORPHA:398069 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ambiguous genitalia, Thyroid hyp... |
ORPHA:2166 |
Acrocallosal Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Macrocephaly, Triangular mouth, Clef... |
OMIM:200990 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Cerebral cortical hemiatrophy, Short nose, Abnormal testis mo... |
ORPHA:96147 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Abnormal nasopharynx morphology, Hypotelorism, Decreased response to growth horm... |
OMIM:147250 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Macrocephaly, Atrial septal defect, Hyperteloris... |
OMIM:300963 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Intrauterine grow... |
OMIM:220210 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Hypotelorism, Cerebral cortical atrophy, Tooth malposition, Malar flattening, Short ... |
ORPHA:1387 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Holoprosencephaly 5 |
|
High palate, Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelence... |
OMIM:609637 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Short philtrum, Ventricular s... |
OMIM:612530 |
Triploidy |
|
Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Macrocephaly, Cleft palate, Ambigu... |
ORPHA:3376 |
49,Xxxxy Syndrome |
|
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Down-sloping shoulders, Delayed erup... |
ORPHA:96264 |
Pallister-Hall Syndrome |
|
Cleft palate, Hypothalamic hamartoma, Decreased circulating cortisol level, Depressed nasal bridg... |
OMIM:146510 |
Trisomy 1Q |
|
Hydrocephalus, Macrocephaly, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Amb... |
ORPHA:261344 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Recombinant Chromosome 8 Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Ventricular septal defect, Thick lower lip ... |
OMIM:179613 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Abnormal heart morphology, Micrognathia, Decreased testicular size, Hyperte... |
OMIM:300978 |
Distal Monosomy 10P |
|
Ectopic anus, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Convex nasal ridge, ... |
ORPHA:1580 |
Kleefstra Syndrome 1 |
|
Single transverse palmar crease, Mandibular prognathia, U-Shaped upper lip vermilion, Talipes equ... |
OMIM:610253 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadot... |
ORPHA:91348 |
Mosaic Trisomy 9 |
|
High palate, Bulbous nose, Cleft palate, Micromelia, Finger clinodactyly, Ventricular septal defe... |
ORPHA:99776 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Macrocephaly, Polymicrogyria, Ventricular septal defect, Single transverse palmar cr... |
OMIM:214100 |
Trisomy 13 |
|
Cleft palate, Abnormality of the dentition, Abnormality of the ureter, Ventricular septal defect,... |
ORPHA:3378 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Increased hepatic glycogen content, Truncal obesity |
ORPHA:293964 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Anal atresia, Hypertelo... |
ORPHA:1590 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Fused thoracic vertebrae, Holoprosencephaly, Small hand, Short stature, ... |
ORPHA:1445 |
15Q24 Microdeletion Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Microphallus, Wide nasal base, Abnormal hea... |
ORPHA:94065 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Depressed nasal bridge, Talipes equinovarus, Retrognathia, Long philtrum, Radial dev... |
OMIM:141750 |
Distal Monosomy 7Q36 |
|
Wide mouth, Bulbous nose, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holo... |
ORPHA:1636 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Hypotelorism, Dysplastic corpus callosum, Joint contracture of the hand, Depress... |
OMIM:601016 |
Orofaciodigital Syndrome I |
|
High palate, Hydrocephalus, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Lobulated tongue,... |
OMIM:311200 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Depressed nasal bridge, Tapered finger, Ventricular septal defect, Short nose, Umbilical hernia, ... |
OMIM:301040 |
Xp22.13P22.2 Duplication Syndrome |
|
Flared nostrils, High palate, 2-3 toe syndactyly, Short stature, Small hand, Broad nasal tip, Rec... |
ORPHA:284180 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow mouth, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Holoprosencephaly, Apla... |
ORPHA:990 |
Temple Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Intrauterine gr... |
OMIM:616222 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Hydrocephalus, Periventricular heterotopia, Craniosynostosis, Depressed nasal brid... |
OMIM:612289 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Bulbous nose, Deeply set eye, Short stature, Small hand, Thin vermilion border... |
ORPHA:261483 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shape... |
ORPHA:439822 |
Rudiger Syndrome |
|
Bicornuate uterus, Flexion contracture, Micropenis, Ovarian cyst, Depressed nasal bridge, Single ... |
OMIM:268650 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Cleft palate, Micropenis, Small for gestat... |
OMIM:300148 |
Cornelia De Lange Syndrome 5 |
|
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Hypogonadism, Clinodactyly of... |
OMIM:300882 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Tooth malposition, Micropenis, Short stature, Abnormality of dental morpholo... |
ORPHA:85274 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Bulbous nose, Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Decr... |
ORPHA:95699 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Bulbous nose, Wide mouth, Cleft palate, Depressed nasal bridg... |
OMIM:618454 |
Jacobsen Syndrome |
|
Labial hypoplasia, Hydrocephalus, Macrocephaly, Depressed nasal bridge, Clitoral hypoplasia, Vent... |
OMIM:147791 |
Pallister-Hall Syndrome |
|
Macrocephaly, Central adrenal insufficiency, Depressed nasal ridge, Atrioventricular canal defect... |
ORPHA:672 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Macrocephaly, Depressed nasal bridge, Cutaneous syndactyly, Ventricular septal defect, Pulmonary ... |
OMIM:618316 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Retrognathia, Broad nasal tip, Micrognathia, Anophthalmia, Hypoplastic left at... |
OMIM:615524 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, External genital hypoplasia, Cleft palate, Broad nasal tip, Clinodactyly... |
ORPHA:177907 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Labial hypoplasia, Cleft palate, Depressed nasal bridge, Trac... |
ORPHA:138 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Periventricular heterotopia, Craniosynostosis, Polymicrogyria, Hypop... |
ORPHA:468631 |
1Q41Q42 Microdeletion Syndrome |
|
Deeply set eye, Talipes equinovarus, Hypotelorism, Cleft palate, Holoprosencephaly, Hypergonadotr... |
ORPHA:250999 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Cleft palate, Depressed nasal tip, Micromelia, Enlarged kidney, Ambiguous genitali... |
OMIM:612651 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Hydrocephalus, Periventricular heterotopia, Cleft palate, Broad alveolar ridges,... |
OMIM:270400 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogona... |
ORPHA:3085 |
Alkuraya-Kucinskas Syndrome |
|
High palate, Hydrocephalus, Macrocephaly, Depressed nasal bridge, Cutaneous syndactyly, Short nos... |
OMIM:617822 |
Hydrolethalus |
|
Hydrocephalus, Deeply set eye, Cleft palate, Absent septum pellucidum, Abnormality of the sense o... |
ORPHA:2189 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Anencephaly, Micromelia, Aplasia/Hypoplasia of the cerebellum, Ventr... |
ORPHA:1908 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Craniosynostosis, Depressed nasal bridge, Radioulnar synostosis, Short nose, Umbil... |
ORPHA:171839 |
Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Aplasia/Hypo... |
ORPHA:818 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Macrocephaly, Cleft palate, Micropenis, Hypothalamic hamartoma, Depressed nasal br... |
OMIM:241800 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus, Macrocephaly, Talipes equinovarus, Hypertelorism, Hypospadias, ... |
ORPHA:250994 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia, Cleft palate, Cleft ala nasi, Congenital hip disl... |
OMIM:164180 |
3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Macrocephaly, Cleft palate, Atrioventricular can... |
ORPHA:7 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Deeply set eye, Microretrognathia, Hypotelorism, Hypospadias, Abnormality of the dentition, Micro... |
ORPHA:276422 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Hypotelorism, Atrial septal defect, Abnormal external genitalia, Abno... |
ORPHA:3469 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Holoprosencephaly 3 |
|
Hypotelorism, Malar flattening, Holoprosencephaly, Cleft palate, Depressed nasal bridge, Microcep... |
OMIM:142945 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Osteopenia, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Osteo... |
ORPHA:397685 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypotelorism, Hypoplasia of penis,... |
ORPHA:3082 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Gingival overgrowth, Dysplastic corpus callosum, Hypertelorism, Short stature,... |
OMIM:619179 |
Semilobar Holoprosencephaly |
|
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... |
ORPHA:93924 |
Degcags Syndrome |
|
High palate, Wide mouth, Hiatus hernia, Abnormal renal medulla morphology, Craniosynostosis, Oste... |
OMIM:619488 |
Periventricular Nodular Heterotopia 7 |
|
2-3 toe syndactyly, Gray matter heterotopia, Flexion contracture, Cleft palate, Micrognathia, Per... |
OMIM:617201 |
Raine Syndrome |
|
High palate, Wide mouth, Hydrocephalus, Cleft palate, Cerebral calcification, Depressed nasal bri... |
OMIM:259775 |
Short Stature-Micrognathia Syndrome |
|
High palate, Failure to thrive, Intrauterine growth retardation, Decreased body weight, 2-3 toe s... |
OMIM:617164 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia, female, Wide mouth, Exter... |
OMIM:249000 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Disproportionate short-limb short stature, Hypertelorism, Hypoplasia of peni... |
ORPHA:2772 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Wide mouth, Bulbous nose, Depressed nasal bridge, Polymicrogyria, Hypoplasia of the corpus callos... |
OMIM:300354 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Limitation of joint mobility, Atrial septal defect, Macrocephaly, Holoprosencephal... |
ORPHA:93274 |
Halothane Hepatitis |
|
Obesity, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Bulbous nose, Aortic valve stenosis, Everted lower lip vermilion, Depressed nasal bridge, Mitral ... |
ORPHA:324410 |
Meningioma |
|
Hydrocephalus, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituita... |
ORPHA:2495 |
Ring Chromosome 22 Syndrome |
|
Growth delay, Bulbous nose, 2-3 toe syndactyly, Absent septum pellucidum, Microcephaly, Large han... |
ORPHA:1446 |
Proboscis Lateralis |
|
High palate, Macrocephaly, External genital hypoplasia, Optic disc coloboma, Ventricular septal d... |
ORPHA:141099 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Aplasia/Hypoplasia affecting the eye, Short stature, Hypogonadotropic hypogonadism,... |
ORPHA:1643 |
Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Alobar holoprosencephaly, Hypertelorism, High, narrow palate, Micropenis, Short phil... |
OMIM:615433 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Micropenis, Brachydactyly, Syndactyly, Polydactyly, Hypogonadism, Ob... |
OMIM:615983 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Failure to thrive, Short toe, Holoprosencephaly, Micropenis, Microcephaly, Brachydactyly, Tapered... |
OMIM:610680 |
Non-Distal Trisomy 13Q |
|
High palate, Aplasia/Hypoplasia affecting the eye, Hypotelorism, Everted lower lip vermilion, Ara... |
ORPHA:1702 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Short stature, Preaxial polydactyly, Hypogonadotropic hypogonadism... |
ORPHA:141333 |
Ritscher-Schinzel Syndrome 4 |
|
High palate, Wide mouth, Short philtrum, Tapered finger, Narrow palm, Proptosis, Deeply set eye, ... |
OMIM:619435 |
Temple Syndrome |
|
Hydrocephalus, Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormon... |
ORPHA:254516 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Tracheoesophageal fistula, 11... |
ORPHA:77298 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... |
ORPHA:90301 |
Seckel Syndrome 7 |
|
Intrauterine growth retardation, Hypoplasia of the uterus, Abnormal carpal morphology, Hypotelori... |
OMIM:614851 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Macrocephaly, Anencephaly, Lobulated tongue, Ventricular septal defect, Ambiguous ... |
OMIM:269860 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Macrocephaly, Craniosynostosis, Hypoplasia of the corpus callosum, Ventricular septal defect, Roc... |
OMIM:301056 |
Developmental And Epileptic Encephalopathy 80 |
|
High palate, Wide mouth, Tapered finger, Polymicrogyria, Hypoplasia of the corpus callosum, Abnor... |
OMIM:618580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Microcephaly, Tapered finger, Short foot, Obesity, Cryptorchidism |
OMIM:309585 |
Wilson-Turner Syndrome |
|
Deeply set eye, Short stature, Small hand, Hypogonadotropic hypogonadism, Broad nasal tip, Microg... |
ORPHA:3459 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Macrocephaly, Cleft palate, Polymicrogyria, Microphthalmia, Abnormality of neurona... |
ORPHA:899 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad nasal tip, Long nose, Simplified gyral pattern, Intrauterine growth retardation, Disproport... |
OMIM:616541 |
Holoprosencephaly 9 |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Hypoplasia of the maxilla, S... |
OMIM:610829 |
Bangstad Syndrome |
|
Hyperinsulinemia, Convex nasal ridge, Deeply set eye, Increased circulating cortisol level, Short... |
ORPHA:1227 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Narrow mouth, Hypotelorism, Small for gestational age, Short stature, Micrognathia, Oligodontia, ... |
OMIM:616817 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Cleft palate, Osteopenia, Depressed nasal bridge, Primary amenorrhe... |
ORPHA:432 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Aplasia of the phalanges of the 3rd toe, Dila... |
ORPHA:2229 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Acromelic Frontonasal Dysostosis |
|
Cleft palate, Broad nasal tip, Hypoplasia of the corpus callosum, Encephalocele, Cleft upper lip,... |
OMIM:603671 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Slender finger, Short philtrum, Down-sloping shoulders, Hypoplasia of the corpus callosum, Short ... |
ORPHA:391408 |
48,Xxyy Syndrome |
|
Tall stature, Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Radioulnar... |
ORPHA:10 |
Koolen-De Vries Syndrome |
|
High palate, Bulbous nose, Slender finger, Prominent fingertip pads, Cleft palate, Narrow palm, H... |
OMIM:610443 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Bulbous nose, Macrocephaly, Tall stature, Hypoplasia of the corpus callosum, Ventric... |
OMIM:616975 |
Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones, Macrocephaly, Malar flattening, Short stature, Long nose, ... |
OMIM:616831 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypotelorism, Microphthalmia, Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, M... |
ORPHA:3186 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cleft palate, Holoprosencephaly, Radial club hand, Microcephaly, Abnormal morphology of the radiu... |
ORPHA:2165 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... |
OMIM:201810 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Macrocephaly, Craniosynostosis, 1-3 toe syndactyly, Broad hallux, Umbilical hernia... |
OMIM:175700 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Deeply set eye, Widely spaced toes, Shortening of all distal phalanges of the fingers,... |
OMIM:301900 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, High, narrow palate, Short stature, Hypergonadotropic hypogonadism, Abnormality of... |
ORPHA:2183 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Bardet-Biedl Syndrome 7 |
|
Narrow mouth, 2-3 toe syndactyly, Deeply set eye, Malar flattening, Postaxial polydactyly, Depres... |
OMIM:615984 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macrocephaly, Holoprosencephaly, Limited elbow extension, Tapered finger, Macroorchidism |
OMIM:300706 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... |
ORPHA:249 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Hadziselimovic Syndrome |
|
High palate, Failure to thrive, Anal atresia, Hypotelorism, Atrial septal defect, U-Shaped upper ... |
OMIM:612946 |
Trisomy 18P |
|
Narrow mouth, Abnormality of finger, Hypotelorism, High, narrow palate, Short stature, Thin vermi... |
ORPHA:1715 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Macrocephaly, Streak ovary, Uterus didelphys, Polymicrogyria, Short nose, Clitoral hypertrophy, C... |
OMIM:618820 |
Holoprosencephaly 14 |
|
Hydrocephalus, Periventricular heterotopia, Macrocephaly, Cleft palate, Ventricular septal defect... |
OMIM:619895 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Mccune-Albright Syndrome |
|
Abnormality of femur morphology, Abnormal endocrine physiology, Ovarian cyst, Increased circulati... |
ORPHA:562 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Bone cyst, Hyperinsulinemia, Macrog... |
ORPHA:528 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Deeply set eye, Cerebral cortical atrophy, Holoprosencephaly, Adduct... |
ORPHA:2570 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, Macrocephaly, Cleft palate, Congenital hip dislocation, Tapered finger, ... |
OMIM:300209 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Down Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the dentition, Microdontia, Short n... |
ORPHA:870 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Carpenter Syndrome 1 |
|
High palate, External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes,... |
OMIM:201000 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Depressed nasal ridge, Osteopenia, Median cleft lip and palate, Anterior pituitary agenesis, Abno... |
ORPHA:95494 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Hypotelorism, Cleft palate, Finger joint hypermobility, Micropenis, Hypogonadotr... |
OMIM:244200 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, 2-3 toe syndactyly, Atrial septal defect, Hypertelori... |
ORPHA:3304 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Charge Syndrome |
|
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Down-slo... |
OMIM:214800 |
Distal Monosomy 10Q |
|
High palate, Prominent fingertip pads, Craniosynostosis, Cleft palate, Tapered finger, Single tra... |
ORPHA:96148 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Congenital hip dislocation... |
ORPHA:96170 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardat... |
OMIM:101800 |
Harrod Syndrome |
|
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, Narrow mouth, Cerebral cortica... |
ORPHA:2115 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Failure to thrive, Narrow mouth, Hypotelorism, Talipes equinovarus, Hypertelorism, Severe short s... |
OMIM:219150 |
Donohue Syndrome |
|
Wide mouth, Gingival overgrowth, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, ... |
OMIM:246200 |
Kennerknecht syndrome |
|
Abdominal obesity, High palate, Malrotation of colon, Hypoplasia of the uterus, Convex nasal ridg... |
OMIM:600908 |
Filippi Syndrome |
|
Cutaneous syndactyly, Short philtrum, Finger clinodactyly, Microdontia, Ventricular septal defect... |
OMIM:272440 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Cleft palate, Short stature, Abnormality of the ureter, Brachydactyly, Gonadal dysgenesis, Bilate... |
ORPHA:1770 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bulbous nose, Depressed nasal bridge, Short philtrum, Birth length less than 3rd percentile, Sing... |
OMIM:618622 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary ... |
ORPHA:95496 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Labial hypoplasia, Hypotelorism, Talipes equinovarus, Short stature, Osteopenia, Micrognathia, Ca... |
OMIM:211920 |
Chromosome 13Q14 Deletion Syndrome |
|
High palate, Bulbous nose, Hypoplasia of the corpus callosum, Ventricular septal defect, Single t... |
OMIM:613884 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... |
OMIM:614837 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Cleft palate, Advanced eruption of teeth, Tapered finger, Ulnar deviation of finger, Proptosis, A... |
ORPHA:2215 |
Crossed Polysyndactyly |
|
Hypoplasia of penis, Depressed nasal bridge, Postaxial hand polydactyly, Abnormality of the philt... |
ORPHA:2935 |
Meckel Syndrome 14 |
|
Microretrognathia, Holoprosencephaly, Postaxial polydactyly, Single ventricle, Decreased calvaria... |
OMIM:619879 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Hypertelorism, Unilambdoid synostosis, Micrognathia, Long philtrum, Ulnar deviatio... |
OMIM:618577 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome |
OMIM:202110 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Fifth finger distal phalanx clinodactyly, Hypotelorism, Small for gestational age, S... |
ORPHA:3369 |
Mosaic Variegated Aneuploidy Syndrome |
|
Depressed nasal ridge, Cleft palate, Stomach cancer, Aplasia/Hypoplasia of the cerebellum, Abnorm... |
ORPHA:1052 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Periventricular heterotopia, Clinodactyly of the 5th finger, Atrial septal defec... |
OMIM:618974 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
14Q22Q23 Microdeletion Syndrome |
|
Proptosis, Small scrotum, Clinodactyly of the 5th finger, Micrognathia, Anophthalmia, Adrenal hyp... |
ORPHA:264200 |
19P13.12 Microdeletion Syndrome |
|
Cleft palate, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the co... |
ORPHA:254346 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Bulbous nose, Craniosynostosis, Depressed nasal bridge, Ventricular septal defect, Single transve... |
OMIM:614114 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
High palate, Wide mouth, Slender finger, Depressed nasal bridge, Tapered finger, Genu valgum, Ten... |
OMIM:309580 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Wide mouth, Macrocephaly, Osteopenia, Abnormality of the dentition, Macrodontia, Ventricular sept... |
OMIM:212066 |
Marshall-Smith Syndrome |
|
Failure to thrive, Gingival overgrowth, Reduced bone mineral density, Craniosynostosis, Retrognat... |
ORPHA:561 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... |
OMIM:300166 |
Cerebrooculonasal Syndrome |
|
High palate, Hydrocephalus, Macrocephaly, Cleft palate, Craniosynostosis, Hypoplasia of the corpu... |
OMIM:605627 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Ab... |
ORPHA:1772 |
Holoprosencephaly 2 |
|
Proptosis, Median cleft lip and palate, Absent nasal septal cartilage, Solitary median maxillary ... |
OMIM:157170 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Macrocephaly, Hypertelorism, Prominent median palatal raph... |
OMIM:300431 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Cutaneous syndactyly, Delayed eruption of teeth, Sandal gap, Wide nasal... |
ORPHA:2980 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... |
OMIM:614701 |
Acalvaria |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormal lu... |
ORPHA:945 |
Maternal Hyperthermia-Induced Birth Defects |
|
Aplasia/Hypoplasia affecting the eye, Joint stiffness, Clinodactyly of the 5th finger, Hypoplasia... |
ORPHA:2216 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Tracheoesophageal fistula, Bifid uterus, Ventricular septal defect, Umbilical hern... |
OMIM:107480 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Cleft palate, Depressed nasal bridge, Short philtrum, Pyloric stenosis, Intrauterine... |
ORPHA:96184 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Renal tubular dysfunction, Hydrocephalus, Cholelithiasis, Atrial s... |
OMIM:614886 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Microphthalmia, Syndromic 3 |
|
Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Ventricular septal defect, Microphthal... |
OMIM:206900 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Renal cyst, Renal insufficiency, Hypogonadism, Obesity |
OMIM:615987 |
Chung-Jansen Syndrome |
|
High palate, Hypertelorism, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, T... |
OMIM:617991 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Choreoathetosis, Anophthalmia, Microphthalmia |
OMIM:221950 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bulbous nose, Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Tapered finger,... |
OMIM:300968 |
Mehmo Syndrome |
|
Growth delay, Talipes equinovarus, Hypoplasia of penis, External genital hypoplasia, Micropenis, ... |
ORPHA:85282 |
Prader-Willi-Like Syndrome |
|
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... |
ORPHA:398073 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis,... |
ORPHA:371428 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... |
OMIM:617156 |
Fg Syndrome Type 1 |
|
High palate, Wide mouth, Hydrocephalus, Malrotation of colon, Macrocephaly, Craniosynostosis, Lim... |
ORPHA:93932 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, De... |
ORPHA:226307 |
Culler-Jones Syndrome |
|
Cleft upper lip, Hypotelorism, Cleft palate, Micropenis, Postaxial polydactyly, Short stature, Hy... |
OMIM:615849 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Abdominal obesity, Bulbous nose, Deeply set eye, Decrea... |
OMIM:300869 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Preeclampsia |
|
Chronic kidney disease, Small for gestational age, Increased body mass index, Type I diabetes mel... |
ORPHA:275555 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Thick corpus callosum, Depressed nasal ridge, Short fourth metatarsal, Hypoplasia of the corpus c... |
ORPHA:464288 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Deeply set eye, Hypotelorism, Macrocephaly, Micropenis, Long nose, Short philtrum, Cerebellar hyp... |
OMIM:300486 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Thick upper lip vermilion, Hypotelorism, Small for gestational age, Short stature, Short philtrum... |
OMIM:611091 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
High palate, Hydrocephalus, Bulbous nose, Macrocephaly, Short philtrum, Congenital hip dislocatio... |
OMIM:619512 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Generalized ... |
OMIM:612526 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Polymicrogyria, Hypoplasia of ... |
OMIM:156810 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Ventricular septal defect, Short nose, Pulmonary hypoplasia, Intrauteri... |
OMIM:616897 |
Ataxia-Telangiectasia |
|
Failure to thrive, Type II diabetes mellitus, Short stature, Delayed puberty, Diabetes mellitus, ... |
ORPHA:100 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Tall stature, Micropenis, Cleft palate, Micr... |
ORPHA:1926 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Congenital adrenal hypoplasia, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Coffin-Siris Syndrome 9 |
|
High palate, Long nose, Depressed nasal bridge, Short philtrum, Delayed eruption of teeth, Short ... |
OMIM:615866 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Microgna... |
ORPHA:3409 |
Coffin-Siris Syndrome 1 |
|
High palate, Wide mouth, Short sternum, Prominent fingertip pads, Cleft palate, Broad nasal tip, ... |
OMIM:135900 |
X-Linked Intellectual Disability, Snyder Type |
|
High palate, Testicular atrophy, Bulbous nose, Disproportionate tall stature, Cleft palate, Abnor... |
ORPHA:3063 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Hydrocephalus, Deeply set eye, Macrocephaly, Decreased response to growth hormone st... |
OMIM:609757 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal palate morphology, Hydrocephalus, Hypertelorism, Short stature, Pulmonic stenosis, Thin ... |
ORPHA:2701 |
Central Precocious Puberty |
|
Hydrocephalus, Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgro... |
ORPHA:759 |
Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, True anophthalmia,... |
ORPHA:1106 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Reduced bone mineral density, Osteopenia, Arachnodactyly, Primary amenorrhea, Short... |
ORPHA:243 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Micropenis, Short stature, Optic nerve hypoplasia, Anophthalmia, Coloboma, Ectopic ... |
OMIM:610125 |
Proteus-Like Syndrome |
|
Hydrocephalus, Macrocephaly, Open bite, Abnormality of the parathyroid gland, Communicating hydro... |
ORPHA:2969 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Absent thumb, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Hypoplasi... |
OMIM:227646 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... |
ORPHA:280356 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Postnatal growth retardation, Relative macrocephaly, Small hand, Micrognathia... |
ORPHA:254525 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Depressed nasal ridge, Cleft palate, Cerebral calcification, Osteope... |
ORPHA:2671 |
Holoprosencephaly 13, X-Linked |
|
Median cleft palate, Cleft palate, Ventricular septal defect, Solitary median maxillary central i... |
OMIM:301043 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, Supernumerary tooth, Decreased... |
OMIM:264475 |
Ring Chromosome 7 Syndrome |
|
Hydrocele testis, Median cleft palate, Slender finger, Cleft palate, Short philtrum, Single trans... |
ORPHA:1449 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Narrow mouth, Deeply set eye, Talipes equinovarus, Hypotelor... |
OMIM:602471 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, External genital hypoplasia, O... |
ORPHA:329178 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Cleft palate, Optic disc coloboma, Polymicrogyria, Ventricular septa... |
OMIM:615948 |
Fraser Syndrome 1 |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Cleft ala nasi, Clitoral hypertrophy, Abnorm... |
OMIM:219000 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Clinodactyly of the 5th finger, Convex nasal ridge, Hypotelorism, Small for gestatio... |
OMIM:314320 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... |
ORPHA:1515 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Hypotelorism, Large iliac wing, Malar flattening, Severe short stature, Co... |
ORPHA:2511 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Mental Retardation, Buenos Aires Type |
|
High palate, Failure to thrive, Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defe... |
OMIM:249630 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Desmosterolosis |
|
Hydrocephalus, Anomalous pulmonary venous return, Macrocephaly, Cleft palate, Depressed nasal bri... |
ORPHA:35107 |
Monosomy 18P |
|
Tooth malposition, Cleft palate, Holoprosencephaly, Short stature, Micrognathia, Short philtrum, ... |
ORPHA:1598 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Pulmonary hypoplasia, Intra... |
OMIM:601186 |
Orofaciodigital Syndrome Type 4 |
|
Abnormality of the tongue, Absent testis, Depressed nasal ridge, Cleft palate, Cerebral cortical ... |
ORPHA:2753 |
Baraitser-Winter Syndrome 1 |
|
Wide mouth, Short nose, Microphthalmia, Pachygyria, Cleft upper lip, Retrognathia, Long philtrum,... |
OMIM:243310 |
Holoprosencephaly 7 |
|
Hydrocephalus, Macrocephaly, Depressed nasal tip, Short nose, Median cleft lip and palate, Absent... |
OMIM:610828 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Abnormality of the hypothalamus-pituitary axis, Microcephaly, Anophthalmia, Inferior... |
ORPHA:139471 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Bronchiolitis, Renal cyst, Renal insufficiency, Hypogonadism, Obesit... |
OMIM:615993 |
Peters Plus Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Cleft palate, Depressed nasal brid... |
ORPHA:709 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Childhood-onset truncal obesity, Increased adipose tissue, Obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Childhood-onset truncal obesity, Increased adipose tissue, Obesity |
ORPHA:71526 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, S... |
ORPHA:251071 |
Fanconi Anemia |
|
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Abnormality of femur morphology, ... |
ORPHA:84 |
Mental Retardation Syndrome, Belgian Type |
|
Deeply set eye, Eunuchoid habitus, Hypergonadotropic hypogonadism, Cleft ala nasi, Coloboma, Wide... |
OMIM:249599 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Meckel Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Depressed nasal ridge, Cleft palate, Anencephaly... |
ORPHA:564 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... |
OMIM:176270 |
Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Hypertelorism, Absent thumb, Micropenis, Retrognathia, Hypospadias, Micrognat... |
OMIM:617516 |
Pierpont Syndrome |
|
Prominent fingertip pads, Primary microcephaly, Microphthalmia, Deeply set eye, Deep palmar creas... |
ORPHA:487825 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp... |
ORPHA:457059 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Single ... |
ORPHA:2409 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Micromelia, Disproportionat... |
OMIM:200600 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... |
OMIM:619148 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Narrow mouth, Cerebral atrophy, Adducted thumb, Retrognathia, Micrognathia, Sh... |
OMIM:608779 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the dentition, Brachydactyly, Syndactyly, Polydactyly... |
OMIM:615982 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal morphology of ulna, Short stature, Mitral valve prolapse, Abnormal metacarp... |
ORPHA:2233 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Hypotelorism, Slender finger, Short philtrum, Mild microcephaly, Truncal obesity... |
OMIM:613192 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... |
ORPHA:261494 |
Mend Syndrome |
|
High palate, Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Microretr... |
OMIM:300960 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... |
ORPHA:3303 |
Lig4 Syndrome |
|
Amenorrhea, Failure to thrive, Hypotelorism, Micropenis, Microcephaly, Hypothyroidism, Prominent ... |
OMIM:606593 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
High palate, Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the you... |
ORPHA:254531 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Diabetes me... |
OMIM:608709 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Failure to thrive, Hydrocephalus, Bulbous nose, Deeply set eye, Hypertelorism, Malar... |
OMIM:612940 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... |
ORPHA:171706 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Wide mouth, Cone-shaped epiphysis, Tapered finger, Hypoplasia of the corpus callosum, Broad hallu... |
OMIM:618659 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Miscarriage, Cleft palate, Micromelia, Proptosis, Pulmonary hypoplasia, Encephaloc... |
ORPHA:1865 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Short stature, Aplasia/Hypoplasia of the testes, Obesity, Cryptorchidism |
ORPHA:3055 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
High palate, Bulbous nose, External genital hypoplasia, Broad nasal tip, Short philtrum, Hypogona... |
ORPHA:3041 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
Infantile Systemic Hyalinosis |
|
Macrocephaly, Steatorrhea, Osteopenia, Micromelia, Polycystic ovaries, Aplasia/Hypoplasia of the ... |
ORPHA:2176 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... |
ORPHA:98754 |
Gorlin Syndrome |
|
Hydrocephalus, Hypertelorism, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, A... |
ORPHA:377 |
Trisomy 5P |
|
Macrocephaly, Hypoplasia of penis, Short stature, Abnormal metacarpal morphology, Ventriculomegal... |
ORPHA:1742 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Macrocephaly, Prominent median palatal raphe, Tall stature... |
OMIM:300602 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Tape... |
ORPHA:193 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Malabsorption, Malar flattening, Macroglossia, Short stature, Depre... |
OMIM:242860 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of... |
OMIM:181450 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Cleft palate, Single transverse palmar crease, Short nose, Hypoplasia of the ... |
OMIM:305400 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... |
ORPHA:177901 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Bulbous nose, Microphthalmia, Ank... |
ORPHA:250989 |
Smith-Magenis Syndrome |
|
Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Short philtrum, Short nose, Tent... |
ORPHA:819 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Microretrognathia, Hypergonadotropic hypogonadism, Periventricular no... |
OMIM:619737 |
Kallmann Syndrome |
|
Dyspareunia, Cleft palate, Primary amenorrhea, Erectile dysfunction, Decreased fertility, Tooth a... |
ORPHA:478 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... |
ORPHA:98793 |
48,Xxxy Syndrome |
|
Depressed nasal ridge, Tall stature, Cleft palate, Down-sloping shoulders, Delayed eruption of te... |
ORPHA:96263 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Hypertelorism, Microphthalmia, Cleft palate, Craniosynostosis, D... |
ORPHA:2117 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Diastrophic Dysplasia |
|
Macrocephaly, Cleft palate, Cerebral calcification, Depressed nasal bridge, Micromelia, Symphalan... |
ORPHA:628 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Micropenis, Agyria, Lissencephaly, Death in infancy, Postnatal growth re... |
OMIM:300067 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Macrocephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Ventricular septal defect, Umbil... |
ORPHA:500159 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... |
ORPHA:177904 |
Joubert Syndrome 37 |
|
High palate, Deeply set eye, Hypertelorism, Microphthalmia, Micropenis, Postaxial polydactyly, Sh... |
OMIM:619185 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Satoyoshi Syndrome |
|
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... |
ORPHA:3130 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Pancreatitis, Hepatic steatosis, Lipoatrophy, Hepatomegaly |
ORPHA:79084 |
Angelman Syndrome |
|
Wide mouth, Precocious puberty in females, Cerebral dysmyelination, Cerebral cortical atrophy, De... |
ORPHA:72 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Cowden Syndrome 6 |
|
Hydrocele testis, High palate, Narrow mouth, Progressive macrocephaly, Hyperthyroidism, Ovarian c... |
OMIM:615109 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Disproportionate tall statu... |
OMIM:615300 |
Prader-Willi Syndrome |
|
Perisylvian polymicrogyria, Stroke, External genital hypoplasia, Central adrenal insufficiency, O... |
ORPHA:739 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Broad nasal tip, Congenital hip dislocation, Micromelia, Finger cl... |
ORPHA:508488 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Decreased body weight, Hypertelorism, Joint contracture of the hand, Cleft palate, S... |
OMIM:600325 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Precocious puberty, Talipes equinovarus, Clinodactyly of the 5th finger, 2-3 toe syn... |
ORPHA:3306 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... |
OMIM:615415 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Labial hypoplasia, Hiatus hernia, Cleft palate, Broad nasal tip, Cleft ala nasi, C... |
OMIM:305600 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Deeply set eye, Hypotelorism, Patent ductus arteriosus, Clinodactyly, Hydronephros... |
ORPHA:251046 |
Bresek Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Convex nasal ridge, Cleft palate, Optic nerve hyp... |
ORPHA:85284 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
High palate, Wide mouth, Bulbous nose, Macrocephaly, Craniosynostosis, Broad nasal tip, Depressed... |
OMIM:309590 |
Hartsfield Syndrome |
|
Cleft upper lip, Ectrodactyly, Hypotelorism, Hypertelorism, Cleft palate, Craniosynostosis, Micro... |
OMIM:615465 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Micropenis, Small hand, Retrognathia, Short stature, Open mouth, Rocker bott... |
OMIM:615547 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
High palate, Hypotelorism, Depressed nasal bridge, Microcephaly, Long philtrum, Type I diabetes m... |
OMIM:618500 |
Radio-Tartaglia Syndrome |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Tapered finger, Ve... |
OMIM:619312 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered fi... |
ORPHA:3472 |
Trichothiodystrophy |
|
Multiple joint contractures, Craniosynostosis, Osteopenia, Carious teeth, Ventricular septal defe... |
ORPHA:33364 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Microphth... |
ORPHA:2538 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Macrocephaly, Depressed nasal bridge, Delayed eruption of teeth, Long penis, Propt... |
OMIM:264090 |
Distal Monosomy 15Q |
|
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... |
ORPHA:1596 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Hydrocephalus, Hypertelorism, Cleft... |
ORPHA:2075 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Widely spaced primary teeth, Anodontia, Hypoplasia of the primar... |
ORPHA:90322 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Icf Syndrome |
|
Malabsorption, Macrocephaly, Macroglossia, Short stature, Depressed nasal bridge, Micrognathia, C... |
ORPHA:2268 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Williams Syndrome |
|
Cholelithiasis, Wide mouth, Stroke, Abnormal carotid artery morphology, Radioulnar synostosis, Ge... |
ORPHA:904 |
Cowden Syndrome 1 |
|
Hydrocele testis, High palate, Narrow mouth, Progressive macrocephaly, Hyperthyroidism, Ovarian c... |
OMIM:158350 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Catel-Manzke Syndrome |
|
Joint stiffness, Failure to thrive, Clinodactyly of the 5th finger, Atrial septal defect, Radial ... |
ORPHA:1388 |
Cowden Syndrome 5 |
|
Hydrocele testis, High palate, Narrow mouth, Progressive macrocephaly, Hyperthyroidism, Ovarian c... |
OMIM:615108 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Macrocephaly, Microretrognathia, Cerebral atrophy, Flexion contracture, Small hand... |
OMIM:300884 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Depressed nasal bridge, Hypoplasia of the corpus callosum, Ventricular septal defect... |
OMIM:618142 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Holoprosencephaly 1 |
|
Hypotelorism, Alobar holoprosencephaly, Micropenis, Short stature, Single ventricle, Ethmocephaly... |
OMIM:236100 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Trisomy 17P |
|
High palate, Wide mouth, Hydrocephalus, Cleft palate, Tapered finger, Thick nasal alae, Intrauter... |
ORPHA:261290 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Fraser Syndrome |
|
High palate, Depressed nasal bridge, Cleft ala nasi, Ambiguous genitalia, Pulmonary hypoplasia, U... |
ORPHA:2052 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Vissers-Bodmer Syndrome |
|
Decreased body weight, Tall stature, Short stature, Holoprosencephaly, Tapered finger, Intrauteri... |
OMIM:619033 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Short stature, Brachydactyly, Bilateral single tr... |
ORPHA:2377 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Gingival overgrowth, Macrocephaly, Cherry red spot of the macula, Polydactyly, Hyp... |
ORPHA:93400 |
Monosomy 18Q |
|
High palate, Wide mouth, Hydrocephalus, Bulbous nose, Depressed nasal bridge, Short philtrum, Tap... |
ORPHA:1600 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201910 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Female infertility, Anomalous pulmonary venous return, Chronic sinusitis, Peribron... |
ORPHA:244 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... |
ORPHA:2235 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Depressed nasal ridge, Polymicrogyria, Proptosis, Shawl scrotum, Abnormality of neuronal migratio... |
ORPHA:2211 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase |
OMIM:617093 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Apert Syndrome |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Shal... |
OMIM:101200 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Stroke, Micromelia, Microdontia, Hypoplasia of the corpus callosum, Abnormal epiphysis morphology... |
ORPHA:2637 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Thick corpus callosum, Wide mouth, Duodenal atresia, Hypotelorism, Macrocephaly, Micropenis, Shor... |
OMIM:617798 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Everted lower l... |
ORPHA:181393 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebral atrophy, Short stature, Hypergonadotropic hypogonadism, Broad palm, Secondary amenorrhea... |
OMIM:268020 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cleft palate, Broad nasal tip, Depressed nasal tip, Microdontia, Carious teeth, Hypoplasia of the... |
OMIM:129900 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Macrocephaly, Macroglossia, Microcephaly, Nephropathy, Optic disc co... |
OMIM:213300 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Macrocephaly, Short stature, Everted lower lip vermilion, ... |
ORPHA:1193 |
Harrod Syndrome |
|
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, Narrow mouth, External genital... |
OMIM:601095 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Agenesis of corpus callosum, Ventricular septal defect, Ambiguous g... |
ORPHA:93267 |
Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... |
ORPHA:950 |
Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Narrow mouth, Hypotelorism, Short stature, 3-4 finger cutaneous syn... |
OMIM:164220 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Cavum septum pellucidum, Depressed nasal bridge, Syndactyly, Polydactyly, Polymicr... |
OMIM:602501 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia,... |
ORPHA:2556 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Short stature, Broad nasal tip, Microcephaly, Single tr... |
OMIM:618106 |
Trigonocephaly 1 |
|
Hypotelorism, Craniosynostosis, Microcephaly, Long penis, Meckel diverticulum |
OMIM:190440 |
Coffin-Siris Syndrome 12 |
|
High palate, Bulbous nose, Macrocephaly, Slender finger, Depressed nasal bridge, Cutaneous syndac... |
OMIM:619325 |
Opitz Gbbb Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Tracheo... |
ORPHA:2745 |
Tatton-Brown-Rahman Syndrome |
|
Short toe, Macrocephaly, Atrial septal defect, Widely spaced toes, Hypertelorism, Proportionate t... |
ORPHA:404443 |
Peters-Plus Syndrome |
|
Hydrocephalus, Macrocephaly, Cleft palat |