Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Holoprosencephaly |
|
Spinal dysraphism, Abnormality of neuronal migration, Anterior hypopituitarism, Median cleft lip,... |
ORPHA:2162 |
Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Holoprosencephaly, Cyclopia, Postaxial hand polydactyly, Polymicrogyria, Vent... |
OMIM:264480 |
Microform Holoprosencephaly |
|
Hypothyroidism, Ambiguous genitalia, Holoprosencephaly, Iris coloboma, Cyclopia, Cleft palate, Or... |
ORPHA:280200 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Lissencephaly, Hypertrophic cardiomyopathy, Alveolar ridge overgrowth, Cleft palate,... |
OMIM:612938 |
Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Cachexia, Narrow pelvis bone, Holoprosencephaly, ... |
ORPHA:3380 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Abnormality of neuronal migration, Ventriculomegaly, ... |
ORPHA:261236 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Ventriculomegaly, Small pituitary gland, Primary amen... |
ORPHA:398079 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia |
OMIM:201710 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Ambiguous genitalia, Abnormal cardiac septum morphology, Micrognathia, Thyroid hypoplasia, Holopr... |
ORPHA:2166 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Flexion contracture, Ventriculomegaly, Small pituitar... |
ORPHA:398069 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Wide nasal bridge, Coloboma, Toe syndactyly, Abnorma... |
OMIM:200990 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Ventriculomegaly, Abnormal testis morphology, Abnormal cardiac septum ... |
ORPHA:96147 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Clinodactyly, Camptod... |
OMIM:300963 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Anophthalmia, Short statu... |
OMIM:147250 |
Holoprosencephaly 5 |
|
High palate, Syntelencephaly, Deep philtrum, Lateral ventricle dilatation, Hypotelorism, Hydrocep... |
OMIM:609637 |
Ritscher-Schinzel Syndrome 1 |
|
Coloboma, Micrognathia, Cleft palate, Double outlet right ventricle, Ventricular septal defect, H... |
OMIM:220210 |
Triploidy |
|
Meningocele, Non-midline cleft lip, Ambiguous genitalia, Abnormal cardiac septum morphology, Micr... |
ORPHA:3376 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cerebral cortical atrophy, High palate, Furrowed tongue, Short stature, Micrognathia, Hypoteloris... |
ORPHA:1387 |
Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Decreased circulating cortisol level, D... |
OMIM:146510 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Recombinant Chromosome 8 Syndrome |
|
Ventriculomegaly, Micrognathia, Camptodactyly, Gingival overgrowth, Postnatal growth retardation,... |
OMIM:179613 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventriculomegaly, Supernumerary nipple, Pulmonary hypoplasia, Holoprosencephaly, Cleft palate, Ta... |
OMIM:612530 |
Tonne-Kalscheuer Syndrome |
|
Convex nasal ridge, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Prominent nose, Hypert... |
OMIM:300978 |
49,Xxxxy Syndrome |
|
Coxa valga, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Holoprose... |
ORPHA:96264 |
Trisomy 1Q |
|
Camptodactyly of finger, Ambiguous genitalia, Ventriculomegaly, Toe syndactyly, Abnormal rib morp... |
ORPHA:261344 |
Kleefstra Syndrome 1 |
|
Everted lower lip vermilion, Talipes equinovarus, Conotruncal defect, Macroglossia, Hypertelorism... |
OMIM:610253 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Distal Monosomy 10P |
|
Non-midline cleft lip, Convex nasal ridge, Abnormality of the elbow, Wide nasal bridge, Ectopic a... |
ORPHA:1580 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Long philtrum, Short stature, Primary microcephaly, Micrognathia, Bilateral cryptorc... |
OMIM:613544 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Ventriculomegaly, Micrognathia, Biparietal narrowing, Hip dislocation, E... |
ORPHA:99776 |
15Q24 Microdeletion Syndrome |
|
Coloboma, Smooth philtrum, Intestinal atresia, Postnatal growth retardation, Hypertelorism, Narro... |
ORPHA:94065 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Cerebral cortical atrophy, Ulnar deviation of the hand or of fingers of the hand, ... |
OMIM:214100 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Ambiguous genitalia, Encephalocele, Aplasia/Hypoplasia of t... |
ORPHA:1590 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Median cleft lip, Iris coloboma, Abnormality of the ureter, Posta... |
ORPHA:3378 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Small hand, Short stature, Infertility, Clinodactyly, Azoospermia, Syndactyly... |
ORPHA:1445 |
Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Ambiguous genitalia, Ventriculomegaly, Wide nasal bridge, Micrognathia... |
OMIM:612651 |
Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Symphalangism affecting the phalanges of the hand, Wide mouth, Short statu... |
ORPHA:1636 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Radial deviation of finger, Postnatal growth retardation, Talipes equ... |
OMIM:301040 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Ambiguous genitalia, Cleft upper lip, Depressed nasal ridge, Joint contracture of the hand, Anter... |
OMIM:601016 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, 2-3 toe syndactyly, Mandibular prognathia, High palate, Small hand, Short stature... |
ORPHA:284180 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Absent nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia involving the nose, Mandib... |
ORPHA:990 |
Xq27.3Q28 Duplication Syndrome |
|
Deeply set eye, Small hand, Hypogonadism, Short stature, Premature ovarian insufficiency, Decreas... |
ORPHA:261483 |
Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Wide nasal bridge, Median cleft lip, Radial deviation of finger, Alveo... |
OMIM:311200 |
Fontaine Progeroid Syndrome |
|
Convex nasal ridge, Pneumothorax, Recurrent aspiration pneumonia, Microdontia, Micrognathia, Hypo... |
OMIM:612289 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Long philtrum, Birth length less than 3rd ... |
OMIM:300148 |
Cornelia De Lange Syndrome 5 |
|
Ventriculomegaly, Toe syndactyly, Micrognathia, Limited elbow extension, Cleft palate, Postnatal ... |
OMIM:300882 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Prominent nasal tip, Broad hallux, Postnatal growth retard... |
ORPHA:439822 |
Rudiger Syndrome |
|
Ureterovesical stenosis, Flexion contracture, Bicornuate uterus, Death in infancy, Short digit, H... |
OMIM:268650 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Anophthalmia, Wide nasal bridge, Bicornuate uterus, Ventricular septal defect, Micr... |
OMIM:615524 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... |
ORPHA:95699 |
Syndromic X-Linked Intellectual Disability 7 |
|
Tapered finger, Hypogonadism, Short stature, Abnormality of dental morphology, Hypoplasia of peni... |
ORPHA:85274 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, ... |
ORPHA:672 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Micrognathia, Camptodactyly, Lissencephaly, Pleural effus... |
OMIM:617822 |
Temple Syndrome |
|
Precocious puberty, Flexion contracture, Micrognathia, Bifid uvula, Cleft palate, Hydrocephalus, ... |
OMIM:616222 |
Jacobsen Syndrome |
|
Flexion contracture, Micrognathia, Holoprosencephaly, Iris coloboma, Ventricular septal defect, H... |
OMIM:147791 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Short stature, Late... |
OMIM:618330 |
Prader-Willi Syndrome Due To Translocation |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Micrognathia, Bifid uvula, Everted lower... |
ORPHA:177907 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertrophic cardio... |
OMIM:615382 |
Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Ambiguous genitalia, Precocious puberty, Hypoplasia of the f... |
OMIM:270400 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Deeply set eye, Short stature, Hypotelorism, Submucous cleft hard pala... |
ORPHA:250999 |
Hydrolethalus |
|
Retrognathia, Abnormal fallopian tube morphology, Deeply set eye, Anophthalmia, Gingival cleft, M... |
ORPHA:2189 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperinsulinemia, Short stature, Secondary amenorrhea, Decreased testicular size, Type... |
ORPHA:3085 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Atrioventricular canal defect, Bifid tongue, Ventriculom... |
ORPHA:818 |
Charge Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Anterior hyp... |
ORPHA:138 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Spinal dysraphism, Wide nasal bridge, Micrognathia, Holoprose... |
ORPHA:1908 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Hypoplasia of the frontal lobes, Multiple joint contractures, Wide nasal... |
ORPHA:468631 |
1Q21.1 Microduplication Syndrome |
|
Hip dysplasia, Hydrocephalus, Hip dislocation, Macrocephaly, Failure to thrive, Hypospadias, Hype... |
ORPHA:250994 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Anophthalmia, Cleft ala nasi, Orbital encephalocele, Agenesis of corpus ... |
OMIM:164180 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Micrognathia, Short palm, Hydrocephalus, Short nose, Hypertelorism, Cryptorchidis... |
ORPHA:171839 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Short Stature-Micrognathia Syndrome |
|
2-3 toe syndactyly, Decreased body weight, Coxa valga, Micrognathia, Cleft palate, Ventricular se... |
OMIM:617164 |
Holoprosencephaly 3 |
|
Hydronephrosis, Single naris, Ventriculomegaly, Proboscis, Hypotelorism, Bifid uvula, Central dia... |
OMIM:142945 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Pulmonary hypoplasia, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, ... |
OMIM:618316 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Ambiguous genitalia, Deeply set eye, Hypotelorism, Microretrognathia... |
ORPHA:276422 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... |
OMIM:206920 |
Xk Aprosencephaly Syndrome |
|
Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology of the radius, Anal a... |
ORPHA:3469 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Osteopenia, Menorrhagia, Oligomenorrh... |
ORPHA:397685 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Micrognathia, Toe syndactyly, Hip dislocation, Pulmonary hypoplasia, Me... |
OMIM:241800 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Mandibular prognathia, Short stature, Toe syndactyly, Micrognathia, Aplasia/Hy... |
ORPHA:3082 |
3C Syndrome |
|
Atrioventricular canal defect, Abnormality of neuronal migration, Wide nasal bridge, Ectopic anus... |
ORPHA:7 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Raine Syndrome |
|
Microdontia, Increased bone mineral density, Micrognathia, Pulmonary hypoplasia, Cleft palate, Gi... |
OMIM:259775 |
Semilobar Holoprosencephaly |
|
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... |
ORPHA:93924 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebral cortical atrophy, Ventriculomegaly, Wide nasal bridge, Micrognathia, Supernumerary nippl... |
OMIM:618454 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Patent foramen ovale, Long philtrum, Wide nasal bri... |
OMIM:619179 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Ventriculomegaly, Ambiguous genitalia, female, Abnormal cardiac septum m... |
OMIM:249000 |
Degcags Syndrome |
|
Polydactyly, Ambiguous genitalia, Ventriculomegaly, Toe syndactyly, Micrognathia, Smooth philtrum... |
OMIM:619488 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Obesity |
OMIM:234350 |
Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Ventriculomegaly, Shawl scrotum, Decreased testicular size, Short philtrum, Alobar h... |
OMIM:615433 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Encephalocele, Abnormality of neuronal migration, Short stature, Ventri... |
ORPHA:93274 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Ambiguous genitalia, Pulmonary hypoplasia, Median cleft lip, Holoprosencephaly, ... |
OMIM:269860 |
Meningioma |
|
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... |
ORPHA:2495 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Aplasia/Hypoplasia affecting the eye, Ectopic anus, Secondary amenorrhea, Sh... |
ORPHA:1643 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Ventriculomegaly, Optic nerve hypoplasia, Duplication of ren... |
ORPHA:141099 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Prominent nose, Abnormal carpal morphology, Short middle phalanx of the 5... |
OMIM:614851 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Contractures of the large joints, Mandibular prognathia, Abnormal atrioventricula... |
ORPHA:324410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Ventriculomegaly, Abdominal obesity, Polymicrogyria, Macroglossia, Abnormal cerebral white matter... |
OMIM:300354 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short foot, Small hand... |
ORPHA:254516 |
Ring Chromosome 22 Syndrome |
|
2-3 toe syndactyly, Azoospermia, Pleural effusion, Wide nasal base, Protruding tongue, Absent sep... |
ORPHA:1446 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Esophageal a... |
ORPHA:77298 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Non-Distal Trisomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Arachnodactyly, High palate, Long philtrum, Micrognathia, H... |
ORPHA:1702 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Global brain atrophy, Coxa valga, Ventriculomegaly, Optic nerve hypoplasia, Postaxial hand polyda... |
OMIM:301056 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ambiguous genitalia, Abnormality of neuronal migration, Rec... |
ORPHA:2772 |
Ritscher-Schinzel Syndrome 4 |
|
Tapered finger, Wide nasal bridge, Hip dislocation, Narrow palate, Hip dysplasia, Hypertelorism, ... |
OMIM:619435 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Hypogonadism, External genital hypoplasia, Syndactyly, Brachydactyly, Obesity, Micro... |
OMIM:615983 |
Developmental And Epileptic Encephalopathy 80 |
|
Tapered finger, Ventriculomegaly, Wide nasal bridge, Micrognathia, Smooth philtrum, Talipes equin... |
OMIM:618580 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Polycystic ovaries, Insulin-res... |
ORPHA:90301 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Tapered finger, Short foot, Microcephaly, Cryptorchidism, Obesity |
OMIM:309585 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Biemond Syndrome Type 2 |
|
Coloboma, Hypogonadism, Short stature, Hydrocephalus, Delayed puberty, Hypospadias, Preaxial poly... |
ORPHA:141333 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Abnormality of neuronal migration, Ventriculomegaly, Bifid uvula, Lissencephal... |
ORPHA:899 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Hypoplasia of the brainstem, Short stature, Small for gestational age, Micrognath... |
OMIM:616817 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Convex nasal ridge, Deviation of... |
ORPHA:1227 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Convex nasal ridge, Ventriculomegaly, Limb undergrowth, Disproportionate short-li... |
OMIM:616541 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Wide nasal bridge, Aplasia of the phalanges of the 3rd toe, Dilated cardiomyo... |
ORPHA:2229 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Ambiguous genitalia, Cleft upper lip, Encephalocele, Anophthalmia, Depressed nasal r... |
OMIM:613885 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Holoprosencephaly, Postaxial hand polydactyly, Cleft palate, Bilateral cl... |
OMIM:610829 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Generalized... |
ORPHA:432 |
Koolen-De Vries Syndrome |
|
Ventriculomegaly, Hip dislocation, Everted lower lip vermilion, Slender finger, Cleft palate, Aor... |
OMIM:610443 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Genu varum, Gray matter heterotopia, Mandibular prognathia, Abnormality of neuronal migration, Si... |
OMIM:604317 |
Periventricular Nodular Heterotopia 7 |
|
2-3 toe syndactyly, Micrognathia, Periventricular nodular heterotopia, Elbow contracture, Contrac... |
OMIM:617201 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Abnormality of neuronal... |
ORPHA:3186 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Decreased body weight, Primary microcephaly, Micrognathia, Slender finger, Propor... |
ORPHA:391408 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Coloboma, Ventriculomegaly, Micrognathia, Smooth philtrum, Furrowed tongue, Choanal atresia, Pate... |
OMIM:616975 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Holoprosencephaly, Cyclopia, Cleft palate, Double outlet righ... |
OMIM:619895 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short 4th metacarpal, Short stature, High, narrow palate, Mitral valve prolapse, Hydrocephalus, A... |
ORPHA:2183 |
48,Xxyy Syndrome |
|
Ventriculomegaly, Delayed eruption of teeth, Taurodontia, Elbow dislocation, Cleft palate, Abnorm... |
ORPHA:10 |
Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Broad hallux, Postaxial hand polydactyly, Preaxial foot poly... |
OMIM:175700 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Mandibular prognathia, Advanced ossification of carpal bones, Ventriculom... |
OMIM:616831 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Short Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Rieger anomaly, Deeply set eye, Wide nasal bridge... |
OMIM:269880 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Tapered finger, Deeply set eye, Short stature, Shortening of all distal phalanges of t... |
OMIM:301900 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Abnormal cerebral vascular morphology, Abnormal morphology of the radius, Media... |
ORPHA:2165 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Pulmonary artery atresia, Short ... |
OMIM:612946 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Abnormal mandible morphology, Hyperpituitarism, Osteolysis, Abnormal zygomatic ... |
ORPHA:249 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Wilson-Turner Syndrome |
|
Tapered finger, Small hand, Short stature, Deeply set eye, Micrognathia, Malar prominence, Thin u... |
ORPHA:3459 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Micrognathia, Holoprosencephaly, Uterus didelphys, Polymicrogyria, Gra... |
OMIM:618820 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Global brain atrophy, Short 5th finger, Truncus arteriosus, Wide n... |
ORPHA:508488 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Deeply set eye, Hypogonadism, Clinodactyly, Depressed nasal brid... |
OMIM:615984 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Cerebr... |
ORPHA:2570 |
Carpenter Syndrome 1 |
|
Precocious puberty, Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, M... |
OMIM:201000 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, High palate, Wide na... |
ORPHA:3304 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Tapered finger, Macrocephaly, Holoprosencephaly, Limited elbow extension |
OMIM:300706 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Optic nerve hypoplasia, Holoprosencephaly, Pituitary dwarfism, Ectopic anterior pitu... |
ORPHA:95494 |
Trisomy 18P |
|
Underdeveloped nasal alae, Wide nasal bridge, Short stature, Abnormal finger morphology, Microgna... |
ORPHA:1715 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... |
ORPHA:562 |
Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Coloboma, Micrognathia, Secundum atrial septal defect, P... |
OMIM:214800 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Emanuel Syndrome |
|
Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Truncus arteriosus, Microgn... |
ORPHA:96170 |
Hyperparathyroidism, Transient Neonatal |
|
Ventriculomegaly, Wide nasal bridge, Short femur, Ovarian cyst, Recurrent fractures, Short ribs, ... |
OMIM:618188 |
Down Syndrome |
|
Hypothyroidism, Microdontia, Decreased fertility, Narrow palate, Type II diabetes mellitus, Macro... |
ORPHA:870 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Tapered ... |
ORPHA:2215 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Mandibular prognathia, Overgrowth of external ge... |
ORPHA:528 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Ventriculomegaly, Ulnar deviation of the wrist, Micrognathia, A... |
OMIM:618577 |
Pituitary Stalk Interruption Syndrome |
|
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Short stature, Death in infancy, Septo-op... |
ORPHA:95496 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Hypothyroidism, Ambiguous genitalia, Ventriculomegaly, Micrognathia,... |
ORPHA:1052 |
Distal Monosomy 10Q |
|
Tapered finger, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Hip dislocation, S... |
ORPHA:96148 |
Chromosome 13Q14 Deletion Syndrome |
|
Micrognathia, Hip dislocation, Supernumerary nipple, Everted lower lip vermilion, Overlapping toe... |
OMIM:613884 |
Crossed Polysyndactyly |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of pe... |
ORPHA:2935 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Short stature, Bip... |
ORPHA:1770 |
Meckel Syndrome 14 |
|
Retrognathia, Ambiguous genitalia, Pneumothorax, Micrognathia, Polycystic kidney dysplasia, Pulmo... |
OMIM:619879 |
Holoprosencephaly 7 |
|
Wide nasal bridge, Lobar holoprosencephaly, Median cleft lip, Holoprosencephaly, Iris coloboma, H... |
OMIM:610828 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Delayed eruption of teeth, Epiphyseal stippling, Mild postnatal growth r... |
OMIM:101800 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia |
OMIM:202110 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bifid uvula, Smooth philtrum, Arthrogryposis multiplex congenita, Rocker bottom foot, Hypoplasia ... |
OMIM:618622 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Ventriculomegaly, Cleft palate, Deep palmar crease, Short pal... |
ORPHA:254346 |
14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Ventriculomegaly, Toe syndactyly, Micrognathia, Short palm, Diabetes insipi... |
ORPHA:264200 |
Ring Chromosome 7 Syndrome |
|
Cerebral cortical atrophy, Short 5th finger, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Ho... |
ORPHA:1449 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... |
ORPHA:1772 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Primary amenorrhea, Cleft upper lip, Hyposmia, Finger joint hypermobility, Unilateral renal agene... |
OMIM:244200 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Grayish enamel, Micrognathia, Cutaneous syndactyly, Short toe, Supernu... |
ORPHA:2980 |
Harrod Syndrome |
|
Dental malocclusion, Arachnodactyly, Multicystic kidney dysplasia, High palate, Cerebral cortical... |
ORPHA:2115 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Hypothyroidism, Micrognathia, Ventricular septal defect, Atrial sept... |
OMIM:614114 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Wide mouth, Thick lower lip vermilion, Long penis, Severe f... |
OMIM:246200 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Wide nasal bridge, Short stature... |
ORPHA:3369 |
Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, High palate, Decreased response to growth hormone stimulation test, Sho... |
OMIM:609757 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Bifid uvula, Holoprosencephaly, Iris coloboma, Cyclopia, Bilateral cle... |
OMIM:157170 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Coxa valga, Everted lower lip vermilion, Gingival overgrowth, Postnatal growth retardation, Ventr... |
OMIM:212066 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Periventricular heterotopia, Ventricular septal defect, Ventriculomegal... |
OMIM:618974 |
Filippi Syndrome |
|
Ambiguous genitalia, Decreased body weight, Wide nasal bridge, Microdontia, Cutaneous syndactyly,... |
OMIM:272440 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Short stature, Prominent median palatal raphe, Exagg... |
OMIM:300431 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Recurrent respiratory infections, Hypogonadism, Short stature, External genital hypo... |
OMIM:615993 |
Cerebrooculonasal Syndrome |
|
Ventriculomegaly, Optic nerve hypoplasia, Iris coloboma, Postaxial hand polydactyly, Cleft palate... |
OMIM:605627 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Prominent nose, Decreased body weight, W... |
OMIM:614886 |
Microphthalmia, Syndromic 2 |
|
Hypothyroidism, 2-3 toe syndactyly, Flexion contracture, Decreased body weight, Delayed eruption ... |
OMIM:300166 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Pierre-Robin sequence, Wide nasal bridge, Short stature, Deeply set eye, Micrognathi... |
OMIM:613604 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:289548 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:168558 |
Marshall-Smith Syndrome |
|
Retrognathia, Increased susceptibility to fractures, Bowing of the long bones, Ventriculomegaly, ... |
ORPHA:561 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Ventriculomegaly, Wide nasal bridge, Lobar holoprosencephaly, Smooth philtrum... |
OMIM:614701 |
Microphthalmia, Syndromic 3 |
|
Vertebral hypoplasia, Coloboma, Optic nerve hypoplasia, Postnatal growth retardation, Vertebral f... |
OMIM:206900 |
Chung-Jansen Syndrome |
|
High palate, Long philtrum, Tapered finger, Deeply set eye, Micrognathia, Hip dysplasia, Short ph... |
OMIM:617991 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipodystrophy, Genera... |
OMIM:612526 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... |
ORPHA:945 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Micrognathia, Bifid uvula, Cleft palate, Postnatal growth retardation, Narrow... |
ORPHA:96184 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells... |
OMIM:613673 |
Maternal Hyperthermia-Induced Birth Defects |
|
Aplasia/Hypoplasia affecting the eye, Abnormality of neuronal migration, Short stature, Hypoplasi... |
ORPHA:2216 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... |
ORPHA:85445 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, Hip dislocation, Dislocated radial head, Narrow greater sciatic notch, Talipes equi... |
OMIM:602471 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Wide na... |
ORPHA:398073 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Prominent nose, Ventriculomegaly, Deeply set eye, Microphallus, Cerebellar... |
OMIM:300486 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Fg Syndrome Type 1 |
|
Ventriculomegaly, Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Smal... |
ORPHA:93932 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Deeply set eye, Small hand, Hypogonadism, Short stature, Decreased testicular size, Small for ges... |
OMIM:300869 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Nodular goiter, Osteolysis, Iris coloboma, Increased susceptibility to fract... |
ORPHA:371428 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Acute kidney injury, Type I diabetes mellit... |
ORPHA:275555 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Hip dislocation, Smooth philtru... |
OMIM:300968 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Ventriculomegaly, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Sho... |
OMIM:616897 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Optic nerve hypoplasia, Pituitary dwarfism, Decreased circulating T4 concentr... |
ORPHA:226307 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Hypogonadism, Renal cyst, Renal insufficiency, Obesity |
OMIM:615987 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma, Thick corpus callosum, Thin vermilion border, Gingival overgrowth, Vesicoureteral reflu... |
ORPHA:464288 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventriculomegaly, Micrognathia, Recurrent sinusitis, Cleft palate, Broad jaw,... |
OMIM:609029 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Failure to thrive in infancy, Elevated hepatic transaminase, ... |
OMIM:232700 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tapered finger, Wide nasal bridge, Micrognathia, Radial deviation of finger, Slender finger, Tali... |
OMIM:309580 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Convex nasal ridge, Delayed eruption of teeth, Micrognathia, Palmoplan... |
OMIM:601812 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Micrognathia, Dislocated radial head, Bilateral talipes equinovarus, Arthrogryposis multiplex con... |
OMIM:619512 |
Townes-Brocks Syndrome 1 |
|
Hypothyroidism, 2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsa... |
OMIM:107480 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Mehmo Syndrome |
|
Tapered finger, External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Downturned c... |
ORPHA:85282 |
Central Precocious Puberty |
|
Isosexual precocious puberty, Hypothalamic hamartoma, Premature thelarche, Hydrocephalus, Proport... |
ORPHA:759 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Primary microcephaly, Micrognathia, Secundum atrial septal defect, Smooth philtrum, Short nose, P... |
OMIM:608779 |
Culler-Jones Syndrome |
|
Diabetes insipidus, Cleft upper lip, Anterior pituitary hypoplasia, Hypogonadism, Short stature, ... |
OMIM:615849 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Hydronephrosis, Aplasia/Hypoplasia affecting the eye, Spina... |
ORPHA:1926 |
Ataxia-Telangiectasia |
|
Abnormal testis morphology, Short stature, Aplasia/Hypoplasia of the thymus, Type II diabetes mel... |
ORPHA:100 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Arachnodactyly, Decreased serum estradiol, Short statur... |
ORPHA:243 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Short stature, Coloboma, Joint laxity, Optic nerve hypoplasia, Ectopic posterior pi... |
OMIM:610125 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, Recurrent fractures, Hypogonadism, Short fo... |
ORPHA:3409 |
Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... |
OMIM:615948 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Macrocephaly, Venous insuffici... |
ORPHA:2969 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Underdeveloped nasal alae, Thick upper lip vermilion, Prominent nose, Wide nasal bridge, Short st... |
OMIM:611091 |
Trigonocephaly 1 |
|
Long philtrum, Wide nasal bridge, Craniosynostosis, Long penis, Short nose, Meckel diverticulum, ... |
OMIM:190440 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Narrow nasal ridge, Short stature, Talipes equinovarus, Hip dislocation, Joint hypermobility, Add... |
OMIM:219150 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Everted lower lip vermilion, Hypoplasia of the uterus, Short nose, Del... |
OMIM:615866 |
Neu-Laxova Syndrome |
|
Ambiguous genitalia, Flexion contracture, Abnormality of neuronal migration, Ventriculomegaly, Mi... |
ORPHA:2671 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Short foot, Small hand, Micrognathia, Clinodactyly, Relative macrocephaly, Do... |
ORPHA:254525 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Holoprosencephaly 13, X-Linked |
|
Micrognathia, Median cleft lip, Optic nerve hypoplasia, Cyclopia, Cleft palate, Patent foramen ov... |
OMIM:301043 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
X-Linked Intellectual Disability, Snyder Type |
|
Cerebral edema, Camptodactyly, Everted lower lip vermilion, Megalencephaly, Smooth philtrum, Clef... |
ORPHA:3063 |
Fraser Syndrome 1 |
|
Midline nasal groove, Wide nasal bridge, Abnormality of the anus, Pulmonary hypoplasia, Cleft pal... |
OMIM:219000 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Dislocat... |
OMIM:135900 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Esophageal atresia, Hydrocephalus, Partial duplicati... |
OMIM:227646 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing, Abnor... |
ORPHA:2511 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... |
OMIM:201810 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Deep philtrum, Short stature, Thick lower lip vermilion, Hydrocephalus,... |
ORPHA:2701 |
Meckel Syndrome |
|
Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Micrognathia, Lobar holoprosencephaly, Posta... |
ORPHA:564 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal metaphysis morphology, Finger syndactyly, Microdontia, Hypodontia, Taurodont... |
ORPHA:1515 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Cerebral cortical atrophy, Micrognathia, Bifid uvula, Abnormal oral fren... |
ORPHA:2753 |
Hartsfield Syndrome |
|
Gonadotropin deficiency, Lobar holoprosencephaly, Median cleft lip, Cleft palate, Ectrodactyly, D... |
OMIM:615465 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Convex nasal ridge, High palate, Ventricular septal defect, Wide nasal... |
OMIM:314320 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Abnormal periventricular white matter morphology, Contractures of the large ... |
ORPHA:329178 |
Desmosterolosis |
|
Ambiguous genitalia, Abnormality of neuronal migration, Ventriculomegaly, Micrognathia, Increased... |
ORPHA:35107 |
Monosomy 18P |
|
Hypothyroidism, Wide nasal bridge, Short stature, Hypodontia, Micrognathia, Short philtrum, Downt... |
ORPHA:1598 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Hypoplasia of the uter... |
OMIM:601186 |
Achondrogenesis, Type Ia |
|
Pulmonary hypoplasia, Unossified vertebral bodies, Disproportionate short-trunk short stature, Ta... |
OMIM:200600 |
Peters Plus Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Abnormal cardiac septum morphology, Anterior hypopit... |
ORPHA:709 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Clubbing of fingers, ... |
ORPHA:1865 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnormal testis... |
ORPHA:457059 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Anophthalmia, Finger syndactyly, Inferior cerebellar vermis hypoplasia, Postaxial fo... |
ORPHA:139471 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Tapered finger, Wide nasal bridge, Abnormal cardiac septum morphol... |
ORPHA:251071 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Precocious puberty, High palate, Short foot, Small hand, Micrognathia, Clinodactyly, S... |
ORPHA:254531 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Hyposmia, External genital hyp... |
OMIM:615996 |
Fanconi Anemia |
|
Ventriculomegaly, Abnormal testis morphology, Abnormal carotid artery morphology, Aplasia/Hypopla... |
ORPHA:84 |
Lig4 Syndrome |
|
Hypothyroidism, Prominent nose, Failure to thrive, Microcephaly, Cryptorchidism, Micropenis, Amen... |
OMIM:606593 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Lipoatrophy, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity |
ORPHA:71526 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ... |
OMIM:619148 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Stankiewicz-Isidor Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Absent thumb, Patent ductus arteriosus, Prominent nose, Truncus... |
OMIM:617516 |
Cohen Syndrome |
|
Tapered finger, Micrognathia, Iris coloboma, Tooth agenesis, Gingival overgrowth, Genu valgum, Ve... |
ORPHA:193 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Hypogonadism, External genital hypoplasia, Brachydactyly, Renal cyst, Syndactyly, Cr... |
OMIM:615982 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... |
ORPHA:171706 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Prader-Willi Syndrome |
|
Precocious puberty, Ventriculomegaly, Adrenal insufficiency, Radial deviation of finger, Primary ... |
OMIM:176270 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Convex nasal ridge, Micrognathia, Cleft palate, Choanal atresia, T... |
ORPHA:2409 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular nodular heterotopia, Microretrognathia, Hypertelorism, Secondary microcephaly, Hy... |
OMIM:619737 |
Baraitser-Winter Syndrome 1 |
|
Ventriculomegaly, Wide nasal bridge, Lissencephaly, Duplication of phalanx of hallux, Iris colobo... |
OMIM:243310 |
Distal Monosomy 15Q |
|
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Pulmonary hypopl... |
ORPHA:1596 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Short stature, Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity |
ORPHA:3055 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Tapered finger, Coloboma, Wide nasal bridge, Hallux valgus, Ventriculomegaly,... |
OMIM:618659 |
Mental Retardation Syndrome, Belgian Type |
|
Wide nose, Mandibular prognathia, Deeply set eye, Coloboma, Cleft ala nasi, Eunuchoid habitus, Di... |
OMIM:249599 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Wide nasal bridge, Radial deviation of finger, Curved linear dimple below the l... |
OMIM:305400 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Clark-Baraitser syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Prominent median palatal raphe, Exaggerated median t... |
OMIM:300602 |
Kleefstra Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Delayed eruption of teeth, Supernumerary nipple, Eve... |
ORPHA:261494 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Short palm, Gingival overgrowth, Increased susceptibility to fractures, ... |
ORPHA:2176 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, High palate, Hypogonadism, Abnormal testis morphology, Short stature, Mitral... |
ORPHA:2233 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... |
ORPHA:98754 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Chronic bronchitis, Bronchiectasis, Short stature, Malabsorption, Micrognathia, Macroglossia, Sho... |
OMIM:242860 |
Kallmann Syndrome |
|
Anterior hypopituitarism, Tooth agenesis, Primary amenorrhea, Cleft palate, Reduced bone mineral ... |
ORPHA:478 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosen... |
ORPHA:2117 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Clinodactyly of the 5th finger, Brachydactyly, Proptosis, Cryptorchidi... |
ORPHA:3303 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Thick corpus callosum, Hydrocephalus, Macrocephaly, Syndactyly, Megalencephaly,... |
OMIM:615938 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Diabetes mellitus, Polyc... |
OMIM:608709 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Long philtrum, Narrow nasal ridge, Deeply set eye, Hydrocephalus, Joint hypermobilit... |
OMIM:612940 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Micrognathia, Elbow dislocation, Hypopla... |
ORPHA:628 |
1Q21.1 Microdeletion Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Toe syndactyly, Iris coloboma, Talipes equ... |
ORPHA:250989 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Precocious puberty, Ventriculomegaly, Wide nasal bridge, Toe syndactyly, Microgna... |
ORPHA:819 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lissencephaly, Pa... |
OMIM:300067 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Mild microcephaly, Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Sho... |
OMIM:613192 |
Angelman Syndrome |
|
Precocious puberty in females, Mandibular prognathia, Cerebral cortical atrophy, Wide mouth, Wide... |
ORPHA:72 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Colonic diverticula, High palate, Micrognathia, Thyroiditis, Hyd... |
OMIM:615109 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
2-3 toe syndactyly, Metatarsus adductus, Everted lower lip vermilion, 4-5 toe syndactyly, Short t... |
ORPHA:3041 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
48,Xxxy Syndrome |
|
Coxa valga, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Cleft pal... |
ORPHA:96263 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Tapered finger, Wide nasal bridge, Micrognathia, Prominent nasal tip, Gray ma... |
OMIM:619312 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... |
ORPHA:177901 |
Trisomy 5P |
|
Ventriculomegaly, Short stature, Abnormal metacarpal morphology, Hypoplasia of penis, Macrocephal... |
ORPHA:1742 |
Aminopterin Syndrome Sine Aminopterin |
|
Arachnodactyly, High palate, Decreased body weight, Joint contracture of the hand, Short stature,... |
OMIM:600325 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Ventriculomegaly, Polymicrogyria, Patent foramen ovale, Hypoplasia of the brain... |
ORPHA:500159 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Flexion contracture, Tapered finger, Ventriculomegaly, Micrognathia, Camptodactyly, Overlapping t... |
OMIM:309590 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Hypopla... |
ORPHA:739 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... |
ORPHA:98793 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... |
ORPHA:3472 |
Satoyoshi Syndrome |
|
Genu varum, Tapered finger, Short stature, Abnormality of the humerus, Abnormality of the ovary, ... |
ORPHA:3130 |
Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age |
OMIM:248100 |
Bresek Syndrome |
|
Vesicoureteral reflux, Convex nasal ridge, Decreased testicular size, Aganglionic megacolon, Hydr... |
ORPHA:85284 |
Icf Syndrome |
|
Short stature, Malabsorption, Micrognathia, Communicating hydrocephalus, Macrocephaly, Macrogloss... |
ORPHA:2268 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Bifid ureter, Delayed eruption of teeth, Toe synda... |
OMIM:305600 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Stiff elbow, Imperforate... |
OMIM:181450 |
Gorlin Syndrome |
|
Palmar pits, Vertebral fusion, Mandibular prognathia, Arachnodactyly, Wide nasal bridge, Hydrocep... |
ORPHA:377 |
Joubert Syndrome 37 |
|
Wide nose, High palate, Deeply set eye, Wide nasal bridge, Short stature, Decreased testicular si... |
OMIM:619185 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... |
ORPHA:177904 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Camptod... |
OMIM:611209 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ambiguous genitalia, Ventriculomegaly, Hypodysplasia of the corpus callosum, Micrognathia, Cleft ... |
OMIM:257300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney ... |
ORPHA:2538 |
Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Short toe, Patent ductus arteriosus, Mandibular prognathia, Ventriculomegal... |
ORPHA:404443 |
Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,... |
ORPHA:90322 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hemimegalencephaly, Hyperthyroidism, Colonic diverticula, High palate, Micrognath... |
OMIM:158350 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Colonic diverticula, High palate, Micrognathia, Thyroiditis, Hyd... |
OMIM:615108 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:617593 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Deeply set eye, Finger syndactyly, Hypotelorism, Hydrocephalus, Clinoda... |
ORPHA:251046 |
Schaaf-Yang Syndrome |
|
Retrognathia, Abnormality of the philtrum, Flexion contracture, Mandibular prognathia, Short foot... |
OMIM:615547 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Wiedemann-Rautenstrauch Syndrome |
|
Convex nasal ridge, Hypoplasia of the thymus, Flexion contracture, Delayed eruption of teeth, Mic... |
OMIM:264090 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Short stature, Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-... |
OMIM:268020 |
Trichothiodystrophy |
|
Cerebral cortical atrophy, Multiple joint contractures, Hypoplasia of mandible relative to maxill... |
ORPHA:33364 |
Developmental And Epileptic Encephalopathy 36 |
|
Flexion contracture, Small hand, Hydrocephalus, Macrocephaly, Microretrognathia, Hypertelorism, M... |
OMIM:300884 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Aplasia of the nose, Ethmocephaly, Short stature, Proboscis, Cerebellar hypop... |
OMIM:236100 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Ventriculomegaly, Humeroradial synostosis, Micrognathia, Elbow flexion... |
OMIM:151050 |
Apert Syndrome |
|
Ventriculomegaly, Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, ... |
OMIM:101200 |
Trisomy 17P |
|
Flexion contracture, Tapered finger, Micrognathia, Smooth philtrum, Cleft palate, Thick nasal ala... |
ORPHA:261290 |
Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Clinodactyly, Macrocephaly, Macroglos... |
OMIM:213300 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Polydactyly, Abnormal cardiac septum morphology, S... |
ORPHA:294975 |
Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Multicystic kidney dysplasia, Gonadal dysgenesis, male, Wide nasal bridge,... |
ORPHA:2075 |
Fraser Syndrome |
|
Ambiguous genitalia, Bifid tongue, Midline nasal groove, Wide nasal bridge, Ectopic anus, Toe syn... |
ORPHA:2052 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Short stature, Macrocephaly, Maxillary lateral incisor microdontia, Obesity, Ever... |
ORPHA:1193 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypospadias, Adrenal hyperplasia |
OMIM:201910 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ambiguous genitalia, Micrognathia, Lissencephaly, Overlapping toe, Bilateral talipes equinovarus,... |
OMIM:618142 |
Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Bronchiectasis, Abnormal inferior vena cava morphology, Double outlet right ven... |
ORPHA:244 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Flexion contracture, Lateral ventricle dilatation, Micrognathia,... |
OMIM:210710 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Selective tooth agenesis, Toe syndactyly, Microdontia, Depressed nasal tip, Cleft palate, Choanal... |
OMIM:129900 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Reduced bone mineral density, Recurrent fractures, Short stature, Absence of... |
ORPHA:2235 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Ventriculomegaly, Wide nasal bridge, Abnormal cerebral vascular morphology, M... |
ORPHA:2637 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Delayed eruption of teeth, Short stature, Type II diabetes mell... |
ORPHA:181393 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Ventriculomegaly, Wide nasal bridge, Periventricular nodular heterotopi... |
OMIM:603671 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Carney Complex |
|
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Oligospermia, Follicular thyro... |
ORPHA:1359 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Micrognathia, Distal shortening of limbs, Pulmonary hypoplasia, S... |
ORPHA:50945 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Precocious puberty, High palate, Ventricular septal defect, Hypogonadism, Dee... |
ORPHA:3306 |
Monosomy 18Q |
|
Hypothyroidism, Tapered finger, Secundum atrial septal defect, Biparietal narrowing, Left aortic ... |
ORPHA:1600 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide nasal bridge, Wide mouth, Short stature, Submucous cleft hard palate, Joint hyp... |
OMIM:618106 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Coffin-Siris Syndrome 12 |
|
Hip subluxation, Hypothyroidism, Noncommunicating hydrocephalus, Micrognathia, Prominent nasal ti... |
OMIM:619325 |
Williams Syndrome |
|
Precocious puberty, Colonic diverticula, Hallux valgus, Aortic arch aneurysm, Aplasia/Hypoplasia ... |
ORPHA:904 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Cerebral cortical atrophy, Deeply set eye, Hallux valgus, Birth length less than 3rd percentile, ... |
OMIM:614104 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Short stature, Type II diabetes mellitus, Hypoplasia of penis, Hand polydactyl... |
ORPHA:2377 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Eclabion, Failure to thri... |
OMIM:616395 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Respiratory tract infection, Cherry red spot of the macula, Hydrocephalus, Macroceph... |
ORPHA:93400 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Wide mouth, Hyperintensity of cerebral white matter on MR... |
OMIM:617798 |
Schilbach-Rott Syndrome |
|
Prominent nose, Short stature, Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger... |
OMIM:164220 |
Vissers-Bodmer Syndrome |
|
Decreased head circumference, Decreased body weight, Tapered finger, Short stature, Holoprosencep... |
OMIM:619033 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Short stature, Ventriculom... |
ORPHA:1388 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, High palate, Tapered finger, Ventriculomegaly, Joint hypermobility, Everte... |
OMIM:617804 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Ambiguous genitalia, Mandibular aplasia, Abnormality of the anus, Wide nasal bridge, Abnormal tes... |
ORPHA:2556 |
Vici Syndrome |
|
Everted upper lip vermilion, Micrognathia, Median cleft lip, Cleft palate, Postnatal growth retar... |
OMIM:242840 |
Acrodysostosis |
|
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Short toe, Abnormal morpholog... |
ORPHA:950 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increased body weight |
ORPHA:890 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Small hand, Depressed nasal ridge, Deeply set eye, Hip dys... |
OMIM:618672 |
Acrodysostosis 2 With Or Without Hormone Resistance |