Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... |
OMIM:231060 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:615524 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mo... |
ORPHA:1906 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart |
OMIM:236110 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polycys... |
OMIM:613885 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... |
ORPHA:3316 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Microphthalmia |
ORPHA:3434 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Choana... |
OMIM:608572 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate |
OMIM:619452 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... |
ORPHA:2007 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Hypospadias, Abnormal nasal base norphology, Unilateral cleft lip, Abnorma... |
ORPHA:1919 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis, Abnormal palate morphology |
ORPHA:1450 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares, Inguinal hernia |
OMIM:180360 |
8P23.1 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, T... |
ORPHA:251076 |
Miller-Dieker Syndrome |
|
Omphalocele, Anteverted nares, Abnormal upper lip morphology, Nephropathy, Short nose |
ORPHA:531 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep ph... |
ORPHA:261120 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Ab... |
OMIM:179613 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m... |
ORPHA:2059 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Bulbous nose, Thick low... |
ORPHA:3080 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd... |
OMIM:613630 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615938 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pulmonary artery at... |
OMIM:618316 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Mecke... |
OMIM:190440 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ventricular septal defect, Micrognathia, Wide nasal bridge, Downturned corners of mo... |
ORPHA:93267 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi... |
ORPHA:1166 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615937 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Trisomy 1Q |
|
Microretrognathia, Omphalocele, Wide nose, Anophthalmia, Ventricular septal defect, Depressed nas... |
ORPHA:261344 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Broad nasal tip, Bifid nasal tip... |
OMIM:136760 |
Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Double outlet right... |
OMIM:220210 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Abnormality of the dentition, Micrognathia, High palate, Short philtrum, Malar ... |
ORPHA:217340 |
Disorganization, Mouse, Homolog Of |
|
Multiple lipomas, Sacral lipoma, Cleft palate, Cleft upper lip |
OMIM:223200 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Anophthalmia, Displacement of the urethral meatus, A... |
ORPHA:3378 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Abnormality of the urinary system, High palate, Everted low... |
ORPHA:1695 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpholo... |
ORPHA:1355 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... |
ORPHA:1200 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, ... |
OMIM:158170 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Cleft palate, Abnormal heart morphology, Atypical scarring of skin, Abnormal card... |
ORPHA:294975 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly |
OMIM:618709 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip |
OMIM:601357 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Pulmonary arte... |
OMIM:601186 |
2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Optic disc hypoplasia, Hydronephrosis |
DECIPHER:70 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left he... |
ORPHA:2476 |
Verheij Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Ventricular septal defect, Optic nerve hypoplasia, Br... |
OMIM:615583 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, ... |
ORPHA:401935 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cleft ... |
OMIM:313850 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Bifid uvula |
ORPHA:2669 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nas... |
OMIM:601927 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:611808 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Orofacial cleft, Broad nasal tip |
ORPHA:85287 |
Sonoda Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Narrow mouth |
OMIM:270460 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Anteverted nares, Cleft soft palate, Broad na... |
OMIM:618529 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ven... |
OMIM:145420 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus ... |
OMIM:612561 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Broad nasal tip, Micrognathia, Ectopic kidney, Cleft palate, Abnormal heart morp... |
OMIM:239800 |
Tetraploidy |
|
Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Hydronephrosis, Short philtrum, Aplasia/Hyp... |
ORPHA:3305 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short philtrum, Microphallus, Vesicour... |
OMIM:618454 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth... |
ORPHA:3270 |
Schisis Association |
|
Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft pa... |
ORPHA:63862 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Underdeveloped nasal alae, Flexion co... |
OMIM:263210 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Aplasia/... |
ORPHA:1926 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Macrocephaly |
ORPHA:99966 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... |
ORPHA:1832 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal agene... |
ORPHA:1335 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Proteinur... |
ORPHA:2143 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Cle... |
ORPHA:1727 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex cong... |
OMIM:615731 |
Triploidy |
|
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Non-midline ... |
ORPHA:3376 |
Distal Duplication 15Q |
|
Omphalocele, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Downturned corners of... |
ORPHA:1707 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... |
ORPHA:411986 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... |
ORPHA:1104 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the nose |
ORPHA:1681 |
Perlman Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Anteverted nares, Nephroblastoma, Femoral hernia, Micrognat... |
ORPHA:2849 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Prominent nose, High, narrow palate, Retrognathia, Renal hypoplasia, Micropenis... |
OMIM:617926 |
Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal renal mor... |
ORPHA:2209 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect, Depressed nasal bridge, Micrognathia |
ORPHA:1918 |
Mosaic Trisomy 1 |
|
Microretrognathia, Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital dia... |
ORPHA:1692 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Non-mi... |
ORPHA:1915 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:607091 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Wide nasal bridge |
ORPHA:3366 |
Charlie M Syndrome |
|
Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh... |
ORPHA:1406 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... |
OMIM:147250 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Rhizomelia |
OMIM:166990 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary ce... |
ORPHA:66625 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Depressed nasal bridge, Anteverted nares... |
OMIM:608149 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Vesic... |
OMIM:616894 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septu... |
ORPHA:1027 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly |
ORPHA:1931 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... |
OMIM:618494 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Micrognathia, Patent ductus arteriosus, Wide nasal br... |
ORPHA:3304 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incis... |
OMIM:602418 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transp... |
ORPHA:1913 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Patent ductus... |
OMIM:243310 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Intestinal malrotation, Renal cyst, Cleft palate, Microphthalmia |
OMIM:603194 |
Trisomy 17P |
|
Hypoplasia of penis, Prominent nose, Micrognathia, Flexion contracture, Orofacial cleft, High pal... |
ORPHA:261290 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Abnormal nasopharynx morphology, Inguinal hernia, Ventricular septal de... |
OMIM:300000 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Patent ductus arteriosus, Depres... |
ORPHA:2412 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... |
ORPHA:1248 |
Hydrolethalus |
|
Anophthalmia, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormalit... |
ORPHA:2189 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cle... |
ORPHA:1770 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Prominent nasal bridge, Cleft palate |
ORPHA:85273 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft pala... |
OMIM:206920 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Prune belly, Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Underdeveloped nasal alae, Micrognathia, Deep philtrum, Depressed nasal r... |
ORPHA:77300 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Zechi-Ceide Syndrome |
|
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Oligodont... |
OMIM:612916 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Inguinal hernia, High palate, Narrow mouth, Short nose |
ORPHA:217385 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
C Syndrome |
|
Omphalocele, Ventricular septal defect, Anteverted nares, Accessory oral frenulum, Micrognathia, ... |
OMIM:211750 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Ab... |
ORPHA:1794 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruptio... |
OMIM:618506 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia, Depressed nasal bridge |
OMIM:275100 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Ventral shortening of foreskin,... |
ORPHA:95706 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia, Cleft ala nasi, Cleft palate |
OMIM:164180 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Camptoda... |
OMIM:614815 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Thi... |
OMIM:612946 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Inguinal hernia, Submucous cleft hard palate, Anosmia, Single ... |
ORPHA:2250 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Thick lo... |
OMIM:618950 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... |
OMIM:619980 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... |
ORPHA:97339 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Masa Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:303350 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Complete a... |
OMIM:264480 |
Cat Eye Syndrome |
|
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal... |
OMIM:115470 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, Depressed nasal bridge, Ventricular septal defect, Persistence of prima... |
OMIM:201000 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... |
OMIM:616730 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Non-mid... |
ORPHA:2075 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Hypoplastic pulm... |
OMIM:618021 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Tr... |
OMIM:601355 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Vesicoureteral ... |
ORPHA:2745 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia,... |
OMIM:613544 |
Saccharopinuria |
|
Citrullinuria, Short stature, Histidinuria, Saccharopinuria, Hyperlysinuria |
OMIM:268700 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Partial atrioventricular ca... |
OMIM:615996 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Broad n... |
OMIM:619736 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Hyd... |
OMIM:617127 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premaxil... |
ORPHA:2166 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Flexion contracture of finger, Depressed nasal bridge, Anteverted n... |
ORPHA:254528 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Dysplastic pulm... |
OMIM:300958 |
X-Linked Intellectual Disability, Schimke Type |
|
Narrow nasal bridge, Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee ... |
ORPHA:85285 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft upper lip, Abnormality... |
ORPHA:96167 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Atr... |
ORPHA:1388 |
3C Syndrome |
|
Hypoplasia of penis, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve... |
ORPHA:7 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Broad nas... |
OMIM:222448 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Renal hypoplasia/aplasia, Non-midline cleft lip, Cleft palate, Orofa... |
ORPHA:2549 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Anteverted nar... |
OMIM:247200 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Multicystic kidney dysplasia, Ab... |
ORPHA:2092 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Malar flattening |
ORPHA:85174 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst, Cleft palate, Cleft upper lip |
OMIM:611561 |
Vacterl/Vater Association |
|
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong... |
ORPHA:887 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Prune be... |
OMIM:601389 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Micrognathia, Cleft upper lip, Ectopic kidney, Cleft p... |
OMIM:601076 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Renal agenesis, Patent ductu... |
ORPHA:171839 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Depressed nasal ... |
OMIM:612530 |
Blepharonasofacial Malformation Syndrome |
|
Wide nose, Inguinal hernia, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, ... |
ORPHA:1252 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Cleft uppe... |
ORPHA:915 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot, Hypospadias, Macrocephaly |
ORPHA:250994 |
Acalvaria |
|
Omphalocele, Cleft palate |
ORPHA:945 |
Pallister-Hall-Like Syndrome |
|
Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Micropenis, Microglossia, R... |
OMIM:241800 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Microphallus, Tetralogy of F... |
OMIM:615542 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia, Open mouth |
OMIM:613670 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Underdeveloped nasal alae, Micrognathia, High, narrow ... |
ORPHA:2516 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Patent ductus art... |
ORPHA:1519 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Hypospadias, Micrognathia, Camptod... |
ORPHA:1703 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard p... |
ORPHA:3426 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Prominent nose, Cleft lip, Pate... |
OMIM:616300 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow pala... |
OMIM:617022 |
Distal Duplication 6P |
|
Prominent nasal bridge, Micrognathia, Renal hypoplasia, Thin vermilion border, Abnormality of the... |
ORPHA:1745 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:477817 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... |
OMIM:613680 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia |
OMIM:300577 |
Zaki Syndrome |
|
Wide nose, Anteverted nares, Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Paten... |
OMIM:619648 |
Distal Deletion 10P |
|
Hypoplasia of penis, Micrognathia, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Polycy... |
ORPHA:1580 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasia, Abnormality... |
ORPHA:1834 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... |
OMIM:611867 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Microcephaly |
ORPHA:398189 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal... |
ORPHA:398156 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... |
OMIM:617752 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Congenital Myopathy 19 |
|
Micrognathia, Renal atrophy, Depressed nasal ridge, Congenital contracture, High palate, Hydronep... |
OMIM:618578 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Abnormal localizati... |
ORPHA:83473 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion |
OMIM:155050 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Prominent nose, Micrognathia, Patent ductus arteriosus, Fl... |
OMIM:609625 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Stroke, Homocystinuria, Microcephaly |
OMIM:236250 |
Holoprosencephaly 7 |
|
Hypoplastic nasal septum, Median cleft palate, Bilateral cleft lip, Hypoplasia of the premaxilla,... |
OMIM:610828 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Hypospa... |
OMIM:616449 |
Developmental And Epileptic Encephalopathy 36 |
|
Macrocephaly, Hydrocephalus, Abnormal bleeding, Microcephaly |
OMIM:300884 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Mi... |
OMIM:300887 |
Orofaciodigital Syndrome Viii |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate |
OMIM:300484 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Atrioventricul... |
OMIM:265380 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Bulb... |
OMIM:244300 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... |
OMIM:608227 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Cleft lip, Cleft palate, Increased ... |
OMIM:618761 |
Split hand/foot malformation 1 (SHFM1) |
|
Abnormality of the urinary system, Median cleft lip, Cleft palate |
DECIPHER:46 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Deep philtrum, Non-midline cleft l... |
ORPHA:1297 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... |
OMIM:610205 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,... |
OMIM:106260 |
Trisomy 18 |
|
Microretrognathia, Omphalocele, Ventricular septal defect, Choanal atresia, Abnormality of the up... |
ORPHA:3380 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Choanal atresia, Cleft palate, Abnormalit... |
ORPHA:1135 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... |
ORPHA:2429 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Micrognathia, Bulbous nose, Non-midline cleft lip, Cleft palate, Wide mouth,... |
ORPHA:1636 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ... |
OMIM:617174 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Broad nasal tip, Micropenis, Broad philtrum, Prominent median palatal... |
OMIM:602342 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Abnormal heart valve morphology, Depressed nasal bridge, Hypospadias, Micrognathia, ... |
ORPHA:90652 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Pai Syndrome |
|
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Midline central nervous system lipomas... |
ORPHA:1993 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr... |
OMIM:615297 |
Stimmler Syndrome |
|
Intrauterine growth retardation, Aminoaciduria, Short stature, Microcephaly |
ORPHA:3199 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Anosmia, Cleft palate, Hyposmia, Micropenis |
OMIM:244200 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... |
OMIM:220500 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... |
ORPHA:3079 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Narrow mouth, Atrial septal defect, Abnormal nostril morphology, Micro... |
ORPHA:3469 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Depressed n... |
OMIM:619103 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Micrognathia, Thin vermilion border, High palate, Everted lower lip... |
ORPHA:1702 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Renal cyst, Atrial septal defect, Microretrogna... |
OMIM:229850 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hernia, Hydronephrosis, Abnormal palate morphology |
ORPHA:251046 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Cleft palate, Cleft upper lip |
OMIM:244600 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum |
ORPHA:438178 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto... |
ORPHA:94066 |
Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae,... |
OMIM:277720 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Abnormal cardiac... |
ORPHA:2484 |
Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High... |
ORPHA:96170 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, Midline central nervous system lipomas, High palate, Bifid uvula |
OMIM:155145 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
Joubert Syndrome 15 |
|
Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re... |
ORPHA:261494 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's... |
OMIM:617616 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate, Micrognathia |
OMIM:181180 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... |
OMIM:614744 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Toluene Embryopathy |
|
Micrognathia, Abnormal localization of kidney, Thin vermilion border, Hypoplasia of the zygomatic... |
ORPHA:1920 |
Bladder Exstrophy |
|
Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Intestinal... |
ORPHA:93930 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Renal hypoplasia/aplasia, Long penis, Cl... |
ORPHA:1988 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht... |
OMIM:607597 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Bi... |
OMIM:300373 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Smooth philtrum |
OMIM:613192 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Orofacial cleft, Abnor... |
ORPHA:3186 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Convex nasal ridge, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... |
OMIM:301043 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Neurocutaneous Melanocytosis |
|
Renal hypoplasia/aplasia, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Ventri... |
ORPHA:2481 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Prominent nose, Downturned corners of mouth, Choanal stenosis, Short philt... |
OMIM:601808 |
Isolated Anencephaly |
|
Omphalocele, Cleft lip, Congenital diaphragmatic hernia |
ORPHA:563609 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Abnormal cardiac septum morphology, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge, Vesicoureteral reflux... |
OMIM:616854 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Wide nasal bri... |
ORPHA:1752 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Anal a... |
ORPHA:195 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Micrognathia, Thyroid lymph... |
OMIM:235255 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Aplasia/Hypoplasia of... |
ORPHA:1699 |
Tetrasomy 15Q26 |
|
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High pala... |
OMIM:614846 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Deep philtrum, Depressed nasa... |
ORPHA:2162 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de... |
ORPHA:2729 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, High, n... |
OMIM:272950 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Microcephaly |
ORPHA:26 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:609654 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition,... |
ORPHA:261190 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, I... |
ORPHA:457193 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Malar flatte... |
OMIM:225060 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Patent du... |
OMIM:613870 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... |
ORPHA:2473 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Everted lower lip vermilion,... |
ORPHA:228399 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, Wide nasal bridge, High palate, Broad alveolar ridges... |
OMIM:314320 |
Hartsfield Syndrome |
|
Microphthalmia, Non-midline cleft lip, Depressed nasal bridge, Cleft palate |
ORPHA:2117 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Downturned corners of mouth, Short phil... |
OMIM:601224 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Arthrogryposis multiplex congenita, Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Flexion con... |
OMIM:616897 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect, ... |
ORPHA:93946 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Micrognathia, High palate, Long philtrum |
ORPHA:2598 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Renal hypoplasia, Narrow mouth, Vesi... |
OMIM:613735 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Abnor... |
OMIM:618571 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vesicoureteral reflux, Microdon... |
ORPHA:96169 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Inte... |
ORPHA:2970 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality ... |
ORPHA:363444 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Wide mouth, Malar flattening |
ORPHA:1296 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... |
OMIM:614294 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tr... |
ORPHA:79328 |
Holoprosencephaly 9 |
|
Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft... |
OMIM:610829 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, P... |
OMIM:618829 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... |
ORPHA:77298 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Macrocephaly |
OMIM:600348 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Omphalocele, Renal hypoplasia/aplasia, Intestina... |
ORPHA:1756 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Micrognathia, Diastema, Broad nasal tip, Patent ductus arteriosus, Hig... |
OMIM:609757 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Wide nasal bridge, Broad secondary alveolar ridge, Hi... |
ORPHA:3369 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Bulbous nose, Patent ductus art... |
OMIM:618330 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... |
ORPHA:1529 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Selective tooth agenesis, Underdevelop... |
OMIM:164200 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Bulbous nose, Bilateral... |
ORPHA:369891 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Aortic roo... |
OMIM:616652 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Nager Syndrome |
|
Unilateral renal agenesis, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, No... |
ORPHA:245 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Underdeveloped nasal alae, Micrognathia, Renal hypoplasia/aplasia, Cleft palate... |
ORPHA:1234 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Micropenis, Depressed nasal bridge, Anteverte... |
OMIM:146510 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... |
OMIM:249670 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
3Mc Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Dental crowding, Diastasis recti, Cleft upper lip, Cleft ... |
OMIM:257920 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Dental crowding, C... |
OMIM:612582 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, H... |
ORPHA:2409 |
Constricting Bands, Congenital |
|
Omphalocele, Cleft upper lip, Cleft palate, Gastroschisis, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Atrial... |
OMIM:235510 |
Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Camptodactyly of finger, Cleft palate, Micrognathia |
OMIM:249710 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Depressed nasal bridge, Antev... |
OMIM:614105 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Choanal atresia, Prob... |
ORPHA:141099 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia... |
ORPHA:373 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Long philtrum |
OMIM:617895 |
Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, ... |
OMIM:605627 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela... |
ORPHA:819 |
Mesomelia-Synostoses Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Bulbous nose, Hydronephrosis,... |
ORPHA:2496 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anu... |
OMIM:248450 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Broad nasal tip, Micrognath... |
ORPHA:1655 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst, Abnormality of the dentition |
OMIM:615982 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Depressed nasal bridge, Anteverted nares, U... |
OMIM:614080 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Depressed nasal bridge, Cleft lip, Pulmonary artery stenosis... |
OMIM:280000 |
Acrorenal Syndrome |
|
Renal insufficiency, Renal hypoplasia/aplasia, Micrognathia, Abnormal renal morphology, Cleft palate |
ORPHA:971 |
Lambert Syndrome |
|
Wide mouth, Malar flattening, Inguinal hernia, Hypospadias |
OMIM:245550 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Increased overbite,... |
OMIM:618504 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Non-midli... |
ORPHA:1908 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Underdeveloped nasal a... |
ORPHA:2315 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Microcephaly |
OMIM:619470 |
Achondrogenesis |
|
Inguinal hernia, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:932 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Diastasis recti, Cleft upper l... |
OMIM:265050 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Abnormality of the kidney, Broad nasal tip, Recurrent upper respiratory tr... |
ORPHA:391372 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, An... |
ORPHA:464738 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Abnormal palate morpho... |
ORPHA:2701 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Wide nasal bridge, Hypoplasi... |
OMIM:249620 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ... |
OMIM:618142 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... |
OMIM:618348 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormality of... |
ORPHA:2184 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventricle, Patent ductus arteri... |
ORPHA:185 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia, Micropenis |
OMIM:147950 |
Threoninemia |
|
Growth delay, Hyperthreoninuria |
OMIM:273770 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Dilat... |
ORPHA:314588 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Bulbous nose, Trach... |
ORPHA:1780 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Ex... |
ORPHA:261236 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Cleft palate, Rena... |
OMIM:614424 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, ... |
OMIM:618291 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Patent... |
OMIM:619657 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Mitral stenosis, Ventricular septal defect, Hypospadias, Cleft upper lip, Ca... |
ORPHA:2008 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, High palate, Widely spac... |
OMIM:619762 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Renal agenesis, Partial anosmia, Total anosmia, Anomalous origin of left ... |
ORPHA:2326 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Patent ductus... |
ORPHA:251071 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Long philtrum, Short nose |
ORPHA:90653 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Anteverted nares, Prominent nose, Micrognathia, Depressed nasal ridge, Cleft pal... |
OMIM:154230 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Micrognathia, Cleft palate, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Retrognath... |
OMIM:618265 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrogryposis multiplex congeni... |
OMIM:607598 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Anal atresia, Tetralogy of Fall... |
ORPHA:1381 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Anteverted nares, Intestinal malrotation, Congenital diaphragmatic hernia |
OMIM:601163 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Ventricular septal defect, Dental crowding, Intestinal malrotation, Hypospadias,... |
OMIM:617602 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Horseshoe kidney, Cleft upper lip |
OMIM:216100 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Microcephaly |
ORPHA:1528 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal brid... |
OMIM:618622 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Glandula... |
ORPHA:1358 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Broad nasal tip, Bifid nasal tip, Secundum atrial septal defect, Absence of renal corticomedullar... |
OMIM:619758 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... |
OMIM:613604 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee... |
OMIM:619797 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia |
ORPHA:254534 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the h... |
ORPHA:2241 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hernia, Microphthalmia, Nephroblastoma, Smooth... |
OMIM:602501 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Renal cyst, Cleft palate, Atrial septal defect, Microphthalmia |
OMIM:611134 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Ves... |
OMIM:301056 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF l... |
OMIM:616034 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Wide nasal bridge, Renal cyst |
OMIM:614870 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip |
OMIM:168500 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue, Abnormal heart morphology |
DECIPHER:52 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia, Cleft palate, High palate, Narrow... |
OMIM:246560 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the ... |
ORPHA:1101 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Aminoaciduria, Thick vermilion border, Long philtrum |
ORPHA:833 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord... |
ORPHA:1895 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, M... |
ORPHA:97360 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Dextrocardia, Micrognathia, High, narrow palate, Abnormality of dental eruption... |
ORPHA:96092 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Secondary microcephaly, Short stature, Macrocephaly |
OMIM:618174 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of... |
OMIM:300166 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental m... |
ORPHA:1716 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Macrocephaly |
OMIM:615191 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open... |
OMIM:617877 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Atrial septal ... |
OMIM:619356 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Hydronephrosis |
OMIM:247990 |
Fibrochondrogenesis 1 |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Cleft palate, Narrow mouth, Malar flatteni... |
OMIM:228520 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Broad nasal tip, Wide nasal bridge, Smooth p... |
OMIM:620393 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Macrocephaly |
ORPHA:2185 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, High, narrow palate, Renal cyst, D... |
OMIM:122470 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Microcephaly |
OMIM:204750 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Omphalocele, Depressed nasal bridge, Anteverted nare... |
OMIM:619124 |
Lysine Malabsorption Syndrome |
|
Growth delay, Hyperlysinuria, Renal tubular lysine transport defect |
OMIM:247950 |
Multiple Pterygium Syndrome, X-Linked |
|
Micrognathia, Cleft upper lip, Flexion contracture, Depressed nasal ridge, Cleft palate, Hypoplas... |
OMIM:312150 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the upper urinary tract, Micrognathia, Abnormality of the urethra, Cleft palate, M... |
ORPHA:2145 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Mandibular prognathia, Ventricular septal defect, Depressed nasal b... |
OMIM:301040 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Flexion contracture, Inguinal hernia |
OMIM:618379 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Secondary microcephaly, Aortic valve stenosis, Microcephaly |
OMIM:615599 |
Joubert Syndrome 37 |
|
Wide nose, Anteverted nares, Wide nasal bridge, High palate, Microphthalmia, Micropenis, Hydronep... |
OMIM:619185 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... |
ORPHA:284169 |
Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Thin vermilion border, High palate, Short philtrum, Long philtrum... |
OMIM:617991 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Micrognathia, Narrow mouth, Short nose, Abnormal palate morphology |
ORPHA:1495 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter, Abnormality of the dent... |
OMIM:615398 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Anteverted nares, Renal cyst, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,... |
OMIM:153400 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
Prune Belly Syndrome |
|
Hydroureter, Patent ductus arteriosus, Xerostomia, Aplasia of the abdominal wall musculature, Con... |
OMIM:100100 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... |
OMIM:311200 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, CSF lymphocytic pleiocytosis, Progressive microcephaly, Intrauterine growth retard... |
OMIM:610333 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Inguinal hernia, Tented upper lip vermilion, Wide nasal bridge, Macroglossia, High palate, Umbili... |
OMIM:616025 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Renal hypoplasia, Horseshoe kidney, Duodenal steno... |
ORPHA:2470 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Depressed nasal bridge, Anteve... |
ORPHA:1458 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Dental crowding, Mitral valve prolapse, Atrophic scars, High palate, Narrow mout... |
OMIM:615539 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
Aarskog-Scott Syndrome |
|
Lozenge-shaped umbilicus, Prominent umbilicus, Inguinal hernia, Anteverted nares, Cleft upper lip... |
OMIM:305400 |
C Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Accessory or... |
ORPHA:1308 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Midnasal stenosis, Antevert... |
ORPHA:280200 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Flexion contracture, Wide nasal bridge, Cleft palate, H... |
OMIM:618388 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, M... |
OMIM:311300 |
Filippi Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Wide nasal bridge, Serrated incisors, Thin ... |
OMIM:272440 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... |
ORPHA:84090 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... |
OMIM:619717 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... |
ORPHA:93110 |
Coffin-Siris Syndrome 3 |
|
Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Central diaphragmatic herni... |
OMIM:614608 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Macrocephaly, Umbilical hernia |
ORPHA:1516 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Hypospadias, Unilateral renal agenesis, Bulbous nose, ... |
OMIM:616737 |
Trisomy 20P |
|
Micrognathia, Downturned corners of mouth, Short philtrum, Hernia, Microdontia, Anteverted nares,... |
ORPHA:261318 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Hypospadias, Conical tooth, Underdeveloped nasal alae, Cleft upper lip, V... |
OMIM:129400 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Intestinal malrotation, Crossed fused... |
ORPHA:2538 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Ventricular septal defect, Intestina... |
OMIM:269860 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... |
ORPHA:3253 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth |
OMIM:300143 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Microcephaly, Postnatal growth retardation, Abnormal urin... |
ORPHA:391417 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Hypospadias, Delayed puberty |
ORPHA:141333 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... |
ORPHA:894 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Clef... |
OMIM:605039 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Prominent nasal bridge, Ventricular se... |
OMIM:610443 |
Acromicric Dysplasia |
|
Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum |
ORPHA:969 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Scarring, Delayed eruption of primary teeth, Flexion contrac... |
ORPHA:90322 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Cleft palate, Horseshoe kidney, Arthrogryposis multiplex congenita, Nephroblastoma, Convex nasal ... |
OMIM:617598 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Absent pulmona... |
OMIM:600460 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Hydrocephalus, Macrocephaly |
OMIM:300886 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abnormality of the d... |
OMIM:258865 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Image Syndrome |
|
Depressed nasal bridge, Hydronephrosis, Hypospadias |
ORPHA:85173 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... |
OMIM:616331 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Hypospadias, Underdevelop... |
OMIM:613026 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis |
OMIM:610125 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia |
OMIM:619981 |
Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus, Progressive macrocephaly |
OMIM:203450 |
Dent Disease 2 |
|
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... |
OMIM:300555 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial cleft, Urethral atr... |
ORPHA:2052 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Prominent na... |
ORPHA:85201 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition, Tetral... |
ORPHA:276422 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Patent ductus arteriosus, Downtu... |
OMIM:618652 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft pal... |
OMIM:614261 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Renal ... |
OMIM:614886 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, In... |
ORPHA:404440 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Micrognathia, Carious teeth, Hyp... |
ORPHA:96097 |
Peho-Like Syndrome |
|
Short nose, Retrognathia, Open mouth |
OMIM:617507 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Orofacial cleft... |
ORPHA:2077 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Fanconi Anemia, Complementation Group O |
|
Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Hydronephr... |
OMIM:613390 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Micrognathia, Abnormality of the uret... |
ORPHA:1225 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventri... |
ORPHA:435638 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Lobulated tongue, Cleft upper lip, Patent ductus arteriosus, Abnormal cardiac septu... |
OMIM:249000 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Pericardial effusion, Wide mouth, Abnormal cardiac septum morphology, Pol... |
OMIM:608776 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Femoral hernia, Inguinal hernia, Prot... |
ORPHA:96147 |
Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Wide nasal bridge, Abnormal localization of ... |
ORPHA:2510 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Camptodactyly of finger, Broad nasal tip, Non-midline cleft lip, Cleft palate, Evert... |
ORPHA:1784 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Progressive macrocephaly,... |
ORPHA:25 |
Achondrogenesis Type 1B |
|
Femoral hernia, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:93298 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Mitral valve prolapse, High ... |
OMIM:104350 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Abnormal heart valve morphology, Cl... |
ORPHA:2953 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Ventricular septal defect, Hypospadias, Micrognathia, Complete atr... |
OMIM:236680 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Wide nasal bridge, Buphthalmos, Nephrocalcinosis, Joint contracture, Hi... |
OMIM:618005 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Horseshoe kidney, Hypod... |
ORPHA:1973 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy... |
OMIM:236500 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Gracile Syndrome |
|
Intrauterine growth retardation, Aminoaciduria |
OMIM:603358 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Malar flattening |
OMIM:184840 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I... |
ORPHA:136 |
Tarp Syndrome |
|
Meckel diverticulum, Anteverted nares, Micrognathia, Subdural hemorrhage, Wide nasal bridge, Clef... |
OMIM:311900 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Patent ductus arteriosus, Hydrocephalus, Macrocephaly, Aortic valve ste... |
OMIM:220220 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, In... |
ORPHA:99776 |
Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short... |
ORPHA:93328 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... |
OMIM:619995 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft li... |
OMIM:619122 |
Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect... |
OMIM:609029 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Underdeveloped nasal alae, Hypoplas... |
OMIM:263650 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Joint contracture, Short nose, ... |
OMIM:615419 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... |
OMIM:619179 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Hypospadias, Abnormality of the dentition, Patent ductus... |
ORPHA:65286 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Wi... |
OMIM:601499 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... |
ORPHA:1596 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Hypospadias, Micrognathi... |
OMIM:164745 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Optic nerve hypoplasia, High, narrow palate, Re... |
OMIM:612513 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Abnormal cardiac sept... |
ORPHA:250989 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Renal agenesis, Femoral hernia, Micrognathia, Renal hypoplasia/apl... |
ORPHA:3412 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Br... |
OMIM:249420 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Nasal polyposis, Atrial situs ambiguous, Intestinal malrotation, Sit... |
ORPHA:244 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Depressed nasal bridge, Ventricular septal defect, Dental crowding, Mic... |
OMIM:617061 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Microcephaly |
ORPHA:858 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Stromme Syndrome |
|
Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Micrognathia, Optic nerve hypopl... |
OMIM:243605 |
Achondrogenesis Type 1A |
|
Femoral hernia, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:93299 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation... |
ORPHA:371428 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, ... |
OMIM:273395 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... |
ORPHA:140989 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Abnormal localization of kidney, Cleft palate, Micrognathia |
ORPHA:3429 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Severe short stature |
ORPHA:2278 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Micr... |
OMIM:616145 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anu... |
OMIM:305450 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognat... |
OMIM:616367 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Micrognathia, Congenital contracture, High palate, Short nose |
OMIM:615042 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow... |
OMIM:615879 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormal... |
ORPHA:861 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Patent ductus arterios... |
OMIM:618974 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Oligosacchariduria, Downtur... |
ORPHA:163649 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnormal dental enamel... |
ORPHA:2750 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic... |
OMIM:300558 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Bifid nasal tip, Horseshoe kidney, Bifid nose, Crossed fused renal ectopia, Median cleft lip and ... |
ORPHA:2213 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip ... |
ORPHA:2003 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Fraser Syndrome 1 |
|
Cleft ala nasi, Dental crowding, Anophthalmia, Choanal stenosis, Micropenis, Abnormality of the a... |
OMIM:219000 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Mandibular prognathia, Abnormal zygomatic bone morphology, Unilateral cleft ... |
ORPHA:2511 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Cleft lip, Wide nasal bridge, Cleft palate, Abnormal heart morp... |
ORPHA:217017 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... |
OMIM:270100 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypo... |
ORPHA:93929 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever... |
OMIM:618161 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Microcephaly |
OMIM:236795 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Protruding tongue, Patent ductus arteriosus, Alveola... |
OMIM:612938 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Campto... |
ORPHA:137834 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose... |
OMIM:229400 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Inguinal hernia, Hyp... |
ORPHA:2588 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum |
OMIM:618218 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Underdeveloped nasal alae, Bulbous nose, Velopharynge... |
OMIM:192430 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Nephropathy, Arterial stenosis |
ORPHA:820 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H... |
ORPHA:2461 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Long philtrum, Short nose, Broad philtrum |
OMIM:618577 |
Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, Bifid nasal t... |
OMIM:252100 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atr... |
OMIM:243150 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Bulbous nose, Patent duct... |
ORPHA:2328 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Conical tooth, Hypodontia, Anal atresia |
OMIM:119580 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Prominent nasal bridge, Intestin... |
ORPHA:2712 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Hypoplasia of the iris, Lipoma, Subvalvular aorti... |
OMIM:613001 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly, Microcephaly |
OMIM:304100 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med... |
OMIM:142946 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus,... |
ORPHA:93274 |
Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, Choanal stenosis, Short philtrum, High... |
OMIM:602535 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Anteverted nares, Foot joint contracture, Micrognathi... |
ORPHA:444072 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Ventricular septal defect, Choanal atresia, Intestinal malrotatio... |
ORPHA:1199 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Renal malrotation, Depressed nasal bridge, Anteverted nares, Underdeve... |
OMIM:615866 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... |
OMIM:618460 |
Charge Syndrome |
|
Anophthalmia, Micrognathia, Secundum atrial septal defect, Atrial septal defect, Pulmonary artery... |
OMIM:214800 |
Lipoyltransferase 1 Deficiency |
|
Lacticaciduria, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyperglutaminuria, Vent... |
OMIM:616299 |
Acrocephalopolydactyly |
|
Short nose, Abnormal renal morphology, Depressed nasal ridge |
ORPHA:221054 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Hydroureter, Rectal fi... |
ORPHA:49 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Microcephaly, Methylmalonic aciduria, Aminoaciduria, Ventriculomegaly |
ORPHA:1933 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... |
OMIM:613443 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdevelope... |
ORPHA:2083 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Depressed nasal bridge, Dental malocclusion, Wid... |
OMIM:610733 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Median cleft lip, Abnormal cerebral vascular morphology, Cleft palate |
ORPHA:2165 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Microcephaly |
OMIM:618302 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Conotruncal defect, Hypoplasti... |
ORPHA:40366 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertensi... |
OMIM:615862 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Broad columella, Anteverted nares, Abnormal dental enamel mo... |
ORPHA:2710 |
Char Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Persistence of primary teeth, No permanent den... |
ORPHA:46627 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, M... |
OMIM:257300 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Renal insufficiency, Anteverted nares, Hypospadias, Micrognathia, Hemol... |
OMIM:611209 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Mal... |
ORPHA:912 |
X-Linked Intellectual Disability, Nascimento Type |
|
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Underdeveloped nasal alae, Deep p... |
ORPHA:163956 |
Stickler Syndrome, Type Ii |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Pierre-Robin sequenc... |
OMIM:604841 |
Orofaciodigital Syndrome Vi |
|
Renal agenesis, Accessory oral frenulum, Broad nasal tip, Cleft upper lip, Hamartoma of tongue, M... |
OMIM:277170 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Depressed nasal bridge, Choanal atresia, Prominent nose, Abnormality of the dent... |
OMIM:300968 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Microcephaly, Hydrocephalus, Renal hypoplasia, Growth delay, Neonatal ... |
ORPHA:85284 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, High palate, Short philtru... |
ORPHA:3306 |
Meckel Syndrome 13 |
|
Flexion contracture, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Short philtrum, Short nose, Open mouth |
ORPHA:228384 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mo... |
ORPHA:531151 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Interphalangeal joint contractu... |
OMIM:305620 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect, Wide nasal bridge, Low hanging columella |
OMIM:615236 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the tongu... |
ORPHA:564 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Inguinal hernia, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Renal cyst, ... |
ORPHA:166035 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Micrognathia, Carious teeth, Cleft l... |
OMIM:117650 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Depressed nasal bridge, Broad nasal tip, Cleft lip, Patent ductus arteriosus, Narrow palate, Depr... |
OMIM:618223 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Hypospadias, Narrow nasal ridge, Prominent nose, Abnormality of the denti... |
ORPHA:363528 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Depressed nasal bridge, Patent ductus arteriosus, Short nose, Retrogna... |
ORPHA:166272 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Depressed nasal bridge, Multiple renal cysts, Anteverted nares, Renal cyst |
OMIM:614883 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... |
OMIM:619769 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Microcephaly, Increased CSF lactate, Increased CSF glycine concentration, Intrauterine growth ret... |
OMIM:615330 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Short stature |
ORPHA:417 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge,... |
OMIM:309520 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Urethral atresia, T... |
OMIM:314390 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Wide nasal bridge, Vascular dilatation |
OMIM:614859 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Nephrogenic rest, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, N... |
OMIM:608022 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Cleft upper lip, Microg... |
OMIM:154400 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flexion contracture, Wide nasa... |
OMIM:619383 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Vesicourete... |
OMIM:618828 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Nephroblastoma |
OMIM:235000 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Macrocephaly |
ORPHA:380 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Al-Raqad Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Short nose, Narrow mouth |
OMIM:616459 |
Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, CSF pleocytos... |
OMIM:618384 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Micrognathia, Tracheoesophageal fistula, Urete... |
ORPHA:2437 |
16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Bulbous nose, Abnormal heart morphology, Wide mouth, Thin vermilion border, ... |
ORPHA:485405 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, D... |
OMIM:610536 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Dias... |
ORPHA:329224 |
Hartnup Disorder |
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Short stature, Neutral hyperaminoaciduria |
OMIM:234500 |
Craniofacioskeletal Syndrome |
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Thin upper lip vermilion, Ventricular septal defect, Choanal atresia, Hypospadias, Micrognathia, ... |
OMIM:300712 |
Ichthyosis, Split Hairs, And Amino Aciduria |
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Aminoaciduria |
OMIM:242550 |
Lymphedema-Distichiasis Syndrome |
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Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Cleft upper lip, Patent ductus a... |
ORPHA:33001 |
Li-Campeau Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Long philtrum, Atrial septal defect, Micrope... |
OMIM:619189 |
Combined Deficiency Of Factor V And Factor Viii |
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Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... |
OMIM:608670 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Omphalocele, Hypoplasia of the small intestine, Short nose, Cystic renal dyspl... |
OMIM:200995 |
Glutamate Formiminotransferase Deficiency |
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Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus, Microcephaly |
OMIM:613155 |
Charge Syndrome |
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Anophthalmia, Vesicoureteral reflux, Micropenis, Depressed nasal bridge, Cleft upper lip, Patent ... |
ORPHA:138 |
Urofacial Syndrome 1 |
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Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Ververi-Brady Syndrome |
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Thin upper lip vermilion, Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Wide mouth, H... |
OMIM:617982 |
Chime Syndrome |
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Ventricular septal defect, Abnormal dental morphology, Abnormality of the kidney, Abnormality of ... |
ORPHA:3474 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Hydrocephalus, Secondary microcephaly |
ORPHA:397951 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, R... |
ORPHA:75389 |
Afibrinogenemia, Congenital |
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Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... |
OMIM:608612 |
Cerebral Visual Impairment |
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Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Microcephaly |
ORPHA:447788 |
Heart And Brain Malformation Syndrome |
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Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Hig... |
OMIM:616920 |
Nphp3-Related Meckel-Like Syndrome |
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Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation |
ORPHA:3032 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Mandibular prognathia, Narrow palate, Micropenis, Short upper lip, Thick vermilion border, Short ... |
ORPHA:364028 |
Chromosome 1P36 Deletion Syndrome, Proximal |
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Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... |
OMIM:619343 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
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Aminoaciduria |
ORPHA:79156 |
Cockayne Syndrome Type 1 |
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Mandibular prognathia, Renal insufficiency, Anophthalmia, Proteinuria, Scarring, Delayed eruption... |
ORPHA:90321 |
Microphthalmia With Limb Anomalies |
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Depressed nasal bridge, Macrodontia, Hypoplasia of the premaxilla, Cleft upper lip, Micrognathia,... |
ORPHA:1106 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Patent ductus arteriosus, Pi... |
OMIM:217980 |
Raine Syndrome |
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Mandibular prognathia, Natal tooth, Hydroureter, Depressed nasal bridge, Choanal atresia, Protrud... |
OMIM:259775 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of penis, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Wide nasal ... |
ORPHA:2256 |
Postaxial Acrofacial Dysostosis |
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Choanal atresia, Abnormality of the kidney, Cleft upper lip, Conical tooth, Pyloric stenosis, Mid... |
OMIM:263750 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Exaggerated cupid's bow, Dext... |
OMIM:618619 |
Fibrochondrogenesis |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cleft palate, Nar... |
ORPHA:2021 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... |
OMIM:618975 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal def... |
ORPHA:79113 |
Acrofacial Dysostosis, Catania Type |
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Smooth philtrum, Microretrognathia, Inguinal hernia, Hypospadias, Abnormality of the dentition, C... |
ORPHA:1786 |
Congenital Factor Xiii Deficiency |
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Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Flexion contracture, Downturned corners of mouth, Short philtrum, Wid... |
ORPHA:487796 |
X-Linked Intellectual Disability, Cantagrel Type |
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Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Galactose Epimerase Deficiency |
|
Growth delay, Aminoaciduria |
ORPHA:79238 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Glossoptos... |
ORPHA:2031 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Ventriculomegaly, Microcephaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, ... |
OMIM:225790 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine |
OMIM:237400 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... |
OMIM:173900 |
Indolylacroyl Glycinuria With Mental Retardation |
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Hyperglycinuria |
OMIM:243050 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Vici Syndrome |
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Wide nose, Median cleft lip, Depressed nasal bridge, Everted upper lip vermilion, Cleft upper lip... |
OMIM:242840 |
Hypomandibular Faciocranial Dysostosis |
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Anteverted nares, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Choan... |
ORPHA:1790 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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Thin upper lip vermilion, Wide nose, Peripheral pulmonary artery stenosis, Bicuspid aortic valve,... |
OMIM:300707 |
Papillary Tumor Of The Pineal Region |
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Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
Walker-Warburg Syndrome |
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Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bif... |
ORPHA:899 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... |
OMIM:617056 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide mouth, Oligodontia,... |
OMIM:201180 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Bamforth-Lazarus Syndrome |
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Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Inguinal hernia, Prominent nasal bridge, Optic nerve hypoplasia, Ca... |
ORPHA:261349 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Atrial septal defect... |
ORPHA:280633 |
Orofacial Cleft 15 |
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Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Palate fi... |
OMIM:616788 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Short stature, Hypospadias, Hydrocephalus, Patent ductus arte... |
OMIM:617053 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Diastasis recti, Unilateral renal agenesis, Underdeveloped nasal alae, Pyloric steno... |
OMIM:618419 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Trisomy 8P |
|
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Abnormal atrioventricular ... |
ORPHA:264450 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Hajdu-Cheney Syndrome |
|
Wide nose, Inguinal hernia, Ventricular septal defect, Anteverted nares, Intestinal malrotation, ... |
OMIM:102500 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Abnormality of the dentition, Broad nasal tip, Micrognathia, ... |
OMIM:617557 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Open bi... |
ORPHA:1327 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Renal cyst, Horseshoe kidney,... |
OMIM:250410 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... |
ORPHA:94080 |
Simosa Craniofacial Syndrome |
|
Inguinal hernia, Underdeveloped nasal alae, Long nose, High, narrow palate, Wide nasal bridge, De... |
OMIM:182150 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th... |
ORPHA:314585 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Ventricular septal defect, Depressed nasal bridge, Anteve... |
OMIM:600373 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Naxos Disease |
|
Cardiomyopathy, Cleft upper lip |
ORPHA:34217 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Camptodactyly of finger, Abnormal renal morphology, Cleft pala... |
ORPHA:83 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Ureteral stenosis, Micrognathia... |
OMIM:309350 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia, Micropenis |
OMIM:614838 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Ectopi... |
OMIM:613309 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Sh... |
OMIM:620250 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Hydronephro... |
OMIM:620141 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Micrognathia, Pe... |
OMIM:608779 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Inguinal hernia, Micro... |
OMIM:613177 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Cleft ala nasi, Anophthalmia, Congenital diaphragmatic hernia, Anteriorly p... |
OMIM:305600 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Patent ductus arteriosus, Hydrocephalus, Disproportionate short-limb s... |
ORPHA:2655 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Cleft palate, Malar flattening |
ORPHA:246 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic va... |
OMIM:618027 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, ... |
OMIM:222765 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid... |
ORPHA:391641 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida, Microcephaly |
ORPHA:64754 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge,... |
ORPHA:247262 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... |
OMIM:611773 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Promin... |
ORPHA:2995 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Hernia, Wrist flex... |
OMIM:193700 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Inguinal hernia, Anteverted nares, Unilateral renal agenesis, Cleft upper lip, Microgn... |
OMIM:213980 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature |
OMIM:204730 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Depressed nasal bridge, Anteverted nares, Camptodactyly of fing... |
ORPHA:920 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Wide nasal bridge, C... |
ORPHA:453499 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Promin... |
DECIPHER:81 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Dental crowding, Abnormal localization of kidney, Hematuria, Thin vermilion bord... |
ORPHA:3121 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Gingiva... |
ORPHA:79 |
Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, O... |
ORPHA:870 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo... |
ORPHA:261144 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Wide nasal bridge, Downturned ... |
OMIM:618067 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Nephroblastoma |
ORPHA:2128 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Abnormal nasopharynx morphology, Anal stenosis, Ventricular septal defect, Cho... |
OMIM:607323 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Prominent nose, Carious teeth, High palate, Long philtrum, Atrial sept... |
OMIM:620184 |
Kagami-Ogata Syndrome |
|
Omphalocele, Pursed lips, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis re... |
ORPHA:254519 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, Horseshoe kidney, ... |
ORPHA:93260 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Hypoplasia of penis, Anosmia, Hypoplasia of the zygomatic bone, Abnorma... |
ORPHA:1295 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Desmoid Tumor |
|
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... |
ORPHA:873 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Hypoplasia ... |
ORPHA:560 |
Temple Syndrome |
|
Relative macrocephaly, Hydrocephalus, Postnatal growth retardation, Short stature |
ORPHA:254516 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ve... |
ORPHA:1465 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Short nose, Open mouth |
OMIM:618437 |
Holoprosencephaly 14 |
|
Median cleft lip, Anteverted nares, Ventricular septal defect, Proboscis, Cleft lip, Aortic valve... |
OMIM:619895 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Ventriculomegaly, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe ... |
OMIM:602200 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bifid nasal tip, Unilateral microphthalmos, Bilateral clef... |
OMIM:618874 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Marden-Walker Syndrome |
|
Inguinal hernia, Anteverted nares, Dextrocardia, Hypospadias, Micrognathia, High, narrow palate, ... |
OMIM:248700 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:2183 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Depressed nasal ridge, Wide mouth, Short philtrum, Microphthalmia, Short nose |
ORPHA:163966 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Renal cyst, Cleft palate, Camptodactyly, Micropenis, Bifid uvula |
OMIM:614175 |
Seckel Syndrome 5 |
|
Hypospadias, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cleft palate, Oligod... |
OMIM:613823 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Macrocephaly |
OMIM:307000 |
Acrofacial Dysostosis, Palagonia Type |
|
Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, Oligodontia, Unilateral cle... |
ORPHA:1787 |
Peters Plus Syndrome |
|
Ureteral duplication, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology,... |
ORPHA:709 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose |
OMIM:614078 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Increased head ci... |
ORPHA:268810 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Multiple lipomas, Renal cell carcinoma, Large intestinal polyposis, C... |
OMIM:135150 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:604292 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Prominent nose, Micrognathia, Patent ductus arteriosus, Wide mouth, Ma... |
OMIM:615668 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Malar flattening, Cleft palate, Cleft upper lip |
OMIM:268850 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Am... |
OMIM:615605 |
Radio-Renal Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micrognath... |
ORPHA:3015 |
Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, High palate, Widely spaced... |
ORPHA:2322 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
Alexander Disease Type I |
|
Hydrocephalus, Progressive macrocephaly |
ORPHA:363717 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, High, ... |
ORPHA:369837 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricl... |
ORPHA:2306 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Macrocephaly, Intrauterine growth retardation |
OMIM:300863 |
Valinemia |
|
Valinuria |
OMIM:277100 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Abnormality of the urinary system, Macrocephaly, Ventriculomegaly, M... |
ORPHA:401986 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Hernia, Short nose, Broad philtrum |
ORPHA:1394 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Agenesis of per... |
OMIM:614091 |
Tetrasomy 18P |
|
Narrow mouth, Short nose, Thin vermilion border, Long philtrum |
ORPHA:3307 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Chronic kid... |
OMIM:616580 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Hypos... |
ORPHA:500159 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Rieger anomaly, Ventricular septal... |
OMIM:270450 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Cerebral hemorrhage, Microcephaly, Patent ductus arteriosus, Lateral ventricle ... |
OMIM:617397 |
Hyperlysinemia, Type I |
|
Hyperlysinuria |
OMIM:238700 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hernia, Long philtrum, Short nose |
ORPHA:93329 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Hydrocephalus, Macrocephaly, Umbilical hernia, Ventriculomegaly |
OMIM:175700 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Multiple lipomas, Lymphoid nodula... |
ORPHA:210548 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinos... |
OMIM:130650 |
Meckel Syndrome, Type 6 |
|
Cleft upper lip, Renal cyst, Horseshoe kidney, Cleft palate, Aplasia of the bladder, Hepatic cysts |
OMIM:612284 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Short nose |
OMIM:266810 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Microcephaly, Lacticaciduria, Renal hypoplasia, Increased CSF lactate, Aminoaciduria, 3-Methylglu... |
OMIM:604273 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:616355 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Increased CSF lactate |
OMIM:612075 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic aciduria, Homocystinuria, Short stature, Microcephaly |
OMIM:309541 |
Tarp Syndrome |
|
Anteverted nares, Micrognathia, Pierre-Robin sequence, Wide nasal bridge, Alveolar ridge overgrow... |
ORPHA:2886 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Abnormality of upper lip vermillion, Ventricular septal defect, Prominent nasal bridge... |
ORPHA:251028 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Micropenis, Renal du... |
OMIM:268310 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short philtrum, High palat... |
ORPHA:96121 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Cleft uppe... |
OMIM:164210 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Abnormally large globe |
OMIM:611936 |
Lambotte Syndrome |
|
Retrognathia, Ventricular septal defect, Convex nasal ridge, Narrow mouth |
OMIM:245552 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Cleft palate, Cleft upper lip |
ORPHA:96181 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Recurrent urinary tract infections, Inguinal hernia... |
OMIM:612541 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary... |
OMIM:614527 |
Distal Deletion 12Q |
|
Micrognathia, Ectopic kidney, High, narrow palate, Vesicoureteral reflux, Micropenis, Patent fora... |
ORPHA:96149 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Hypospadias, Camptodactyly of... |
ORPHA:568 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... |
ORPHA:449400 |
Distal Deletion 9P |
|
Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ... |
ORPHA:1642 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Bulbous nose, Patent ductus a... |
OMIM:606232 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect, Micrognathia |
OMIM:243440 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... |
ORPHA:314655 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Urethrovaginal fistula, Clef... |
ORPHA:93271 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Hypos... |
OMIM:617751 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Long nose, Dental malocclusion, High palate, Narrow mouth |
ORPHA:2115 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Microphthalmia, Short nose, Ret... |
OMIM:234050 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Prominent nose, Paten... |
OMIM:617516 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Multicystic kidney dysplasia, Micro... |
ORPHA:3301 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Iniencephaly |
|
Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Orofacial cleft, Gastroschisis, Nar... |
ORPHA:63259 |
Craniofacial Dyssynostosis With Short Stature |
|
Short stature, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Horseshoe kidney, Ventriculo... |
OMIM:218350 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos... |
OMIM:616420 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Hypercalciuria, Intracranial hemorrhage, Nephrocalcinosis, Phosphoe... |
OMIM:241500 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Microcephaly, Aminoaciduria, Subcutaneous hemorrhage, Pulmonar... |
OMIM:603585 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Elevated CSF 4-hydroxybutyric acid concentration, Increas... |
OMIM:271980 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Doors Syndrome |
|
Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widely spaced teeth, High ... |
ORPHA:79500 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Broa... |
OMIM:603671 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Depressed nasal bridge, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Flexion contrac... |
OMIM:308050 |
Coach Syndrome 1 |
|
Anteverted nares, Unilateral renal agenesis, Multiple small medullary renal cysts, Esophageal var... |
OMIM:216360 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Micrognathia, Lens coloboma, Renal hypoplasia, Umbilical ... |
OMIM:618914 |
20Q11.2 Microduplication Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented phi... |
ORPHA:363659 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Diastasis recti, Open mouth, Wide mouth, Long p... |
OMIM:616638 |
Trisomy 9P |
|
Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Impacted tooth, Downturned cor... |
ORPHA:236 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft ... |
ORPHA:251038 |
Humero-Radial Synostosis |
|
Meningocele, Microcephaly |
ORPHA:3265 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... |
OMIM:608836 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Thin upper lip vermilion, Wide nose, Everted upper lip vermilion, Depressed ... |
OMIM:614609 |
Mosaic Trisomy 8 |
|
Wide nose, Anteverted nares, Camptodactyly of finger, Broad nasal tip, Micrognathia, Cleft palate... |
ORPHA:96061 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m... |
ORPHA:439822 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Recurrent urinary tract infections, Choanal atresia, Cleft upper lip, L... |
OMIM:251260 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Proteinuria, Micrognathia, Hematu... |
OMIM:616901 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Advance... |
ORPHA:818 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Cle... |
ORPHA:52055 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Umbilical hernia, Hydrocephalus |
ORPHA:2181 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo... |
ORPHA:363417 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Wide nasal bridge,... |
OMIM:612651 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic ... |
ORPHA:1001 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Dorsocervical fat pad, Micrognathia, Hypop... |
ORPHA:391408 |
Rhombencephalosynapsis |
|
Microretrognathia, Septo-optic dysplasia, Anteverted nares, Aganglionic megacolon, Esophageal atr... |
ORPHA:59315 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Wide nose, Anophthalmia, Hypospadias, Abnormal dental enamel morpholog... |
ORPHA:2556 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Under... |
ORPHA:276432 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Abnormality of the kidney, Micrognathia, Cleft palate, T... |
ORPHA:459061 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Situs inversus totalis,... |
OMIM:267010 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip vermilion, Tran... |
OMIM:616789 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Aminoaciduria, Renal insufficiency, Lacticaciduria |
OMIM:619386 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dental cro... |
OMIM:130720 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Thin vermilion ... |
OMIM:610015 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Pierre-Robin seque... |
OMIM:614921 |
3Mc Syndrome 3 |
|
Diastasis recti, Cleft upper lip, Horseshoe kidney, Cleft palate, Micropenis, Penoscrotal hypospa... |
OMIM:248340 |
Floating-Harbor Syndrome |
|
Prominent nose, Glandular hypospadias, Downturned corners of mouth, Nephrocalcinosis, Short philt... |
OMIM:136140 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the nose, Esophagea... |
ORPHA:2869 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Choanal atresia, Hypospadias, Underdeveloped... |
ORPHA:163979 |
Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Renal agenesis, Abnormality of the nose, Microgna... |
ORPHA:35107 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hydrocephalus, Nephrotic syndrome |
OMIM:269920 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Choanal atresia, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous ... |
ORPHA:1300 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal duplication, Oral mucosal blisters, Urinary bladder inflammation, Conge... |
ORPHA:79403 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognath... |
OMIM:242860 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Pylori... |
ORPHA:261197 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... |
OMIM:619472 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Intestinal malrotation, Micrognathia |
ORPHA:3035 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Microcephaly, Hemolytic-uremi... |
ORPHA:79282 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Cleft lip, Nephrolithiasis, Cleft palate, Abnormal heart morphology, Abnormality... |
ORPHA:91412 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinuria, Growth delay |
OMIM:238750 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Hypospadias, Protruding tongue, Persistence... |
OMIM:610253 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Hypospadias, Esophageal atresia, Tracheoesophageal fi... |
ORPHA:1923 |
Floating-Harbor Syndrome |
|
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ... |
ORPHA:2044 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Congenital dia... |
OMIM:611812 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Choanal atresia, Secundum atrial septal defect, Patent ductus arterios... |
OMIM:612562 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Micrognathia, Recurrent upper respiratory tract infections, Contractur... |
ORPHA:3078 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Exagger... |
OMIM:312870 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Vesic... |
ORPHA:116 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus a... |
OMIM:613457 |
Amish Lethal Microcephaly |
|
Ventriculomegaly, Organic aciduria, Spina bifida, Microcephaly |
ORPHA:99742 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, ... |
ORPHA:1812 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Microcephaly |
OMIM:309400 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft pa... |
ORPHA:1848 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Hypospadias, Cleft li... |
OMIM:616975 |
Glass Syndrome |
|
Smooth philtrum, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Dental crowding, Broa... |
OMIM:612313 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Thin upper lip vermilion, Hip contracture, Ventricular septal defec... |
OMIM:616651 |
1Q44 Microdeletion Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Horseshoe kidney, Growth delay, Biparietal narrowing,... |
ORPHA:238769 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge, Renal cyst |
OMIM:615560 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Micrognathia, Underdeveloped nasal alae, Renal hypoplasia, Dow... |
ORPHA:264200 |
Peho Syndrome |
|
Short nose, Tented upper lip vermilion, Retrognathia, Open mouth |
OMIM:260565 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Midline central nervous system lipomas, Broad nasal tip, Bifid nasal tip, Wide ... |
ORPHA:1827 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Oeis Complex |
|
Duplicated collecting system, Omphalocele, Hydroureter, Renal agenesis, Intestinal malrotation, E... |
OMIM:258040 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiomyopathy, Aminoaciduria, Stroke, Arrhythmia |
OMIM:249270 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Hernia, Short nose |
ORPHA:1912 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Hyperglycinuria |
OMIM:243500 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth, Renal hypoplasia |
OMIM:276950 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventr... |
OMIM:619312 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Ventricular septal defect, Cleft palate, Coarctation of aorta |
OMIM:620210 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly... |
OMIM:613091 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Hypospadias, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Cleft... |
ORPHA:436003 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, 3-Methylglutaconic aciduria, Hypertr... |
ORPHA:496790 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Microcephaly, Postnatal growth retardation, Hemolytic-uremic syndrome, Hydrocepha... |
ORPHA:2169 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Hernia, Antever... |
ORPHA:955 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Ventriculomegaly, Macrocephaly |
OMIM:109120 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent... |
OMIM:601005 |
Hypertryptophanemia |
|
Tryptophanuria |
OMIM:600627 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Prominent nose, Micrognathia, ... |
ORPHA:96148 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose |
ORPHA:2983 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Micrognathia, ... |
OMIM:115150 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Short stature, Cerebellar hemorrhage, Hyperglycinuria,... |
OMIM:606054 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Tracheo... |
ORPHA:268249 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Anteverted nares, Lipodystrophy, Carious teeth, High palate, Narrow mouth, Malar... |
OMIM:219200 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Hiatus hernia, Pancreatic cyst... |
OMIM:610199 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Neurogenic bladder, Short stature, Unilateral vertebral artery hypop... |
OMIM:613686 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Short stature, Cystinuria |
ORPHA:3124 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Microcephaly, Absent urinary urothione, Elevated urinary S-sulfocystein... |
OMIM:252150 |
H Syndrome |
|
Lipodystrophy, Abnormality of the kidney, Malabsorption, Cleft upper lip, Recurrent pharyngitis, ... |
ORPHA:168569 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Multicystic kidney dysplasia, Dandy-Walker malformation |
OMIM:607361 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... |
ORPHA:3097 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Truncus arteriosus, Renal a... |
OMIM:134780 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias... |
OMIM:206900 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Hydroureter, Depressed nasal bridge, Bicuspid aortic valve, Anteverted ... |
OMIM:610759 |
Temple Syndrome |
|
Relative macrocephaly, Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:616222 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Anosmia, Stage 5 chronic kidney disease, Renal cy... |
OMIM:615994 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Microcephaly, Intraventricular hemorrhage, Increased CSF lactate, Aminoaciduria, Prolonged prothr... |
OMIM:619055 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Macrocephaly, Hydrocephalus, Disproportionate short-trunk short stature, Microcephaly |
OMIM:613330 |
Cenani-Lenz Syndrome |
|
Crossed fused renal ectopia, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, High, n... |
ORPHA:3258 |
Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Anoma... |
OMIM:616368 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge |
ORPHA:2835 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, De... |
OMIM:101200 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mouth, Mitral ste... |
OMIM:617260 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea... |
OMIM:113650 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Macroce... |
ORPHA:60040 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Hypospadias, Malar flattening, S... |
OMIM:614613 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... |
OMIM:614262 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Inguinal hernia, Anteverted nares, Ventricular septal defect, Intes... |
ORPHA:2308 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, H... |
OMIM:619426 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts, Abnormal inte... |
ORPHA:1318 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Microglossia, Cleft palate, Thic... |
ORPHA:2839 |
Prader-Willi Syndrome Due To Translocation |
|
Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Patent foramen ovale, Bif... |
ORPHA:177907 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... |
OMIM:608156 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Depressed nasal bridge, Hypospadias |
OMIM:616910 |
Pagod Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla... |
ORPHA:991 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Aganglionic megacolon, Abnorma... |
ORPHA:847 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Long philtrum, Microretrognathia, Scarring, Hiatus hernia, Nep... |
OMIM:601776 |
Familial Visceral Myopathy |
|
Hydroureter, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Micrognathia, Campt... |
ORPHA:2604 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Unilateral renal agenesis, Microcephaly, Hydrocephalus, Patent ductus arterios... |
OMIM:614576 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Flexion contracture,... |
OMIM:617452 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... |
ORPHA:2001 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Renal insufficiency, Proteinuria, Prominent nasal bridge, Hypoplasia of the ma... |
ORPHA:1307 |
Tetrasomy 9P |
|
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Micropen... |
ORPHA:3310 |
Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Short stature |
ORPHA:31 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Micrognathia, Bulbous nose,... |
OMIM:613884 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Anteverted nares, Hypospadias, Protruding tongue, Micrognathia, High, ... |
OMIM:214100 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Ventricular sep... |
OMIM:615582 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Hypertrophic cardiomyopathy, Short nose, Micrognathia |
OMIM:617183 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Cen... |
OMIM:617450 |
Roberts Syndrome |
|
Progressive flexion contractures, Cleft upper lip, Micrognathia, Underdeveloped nasal alae, Long ... |
ORPHA:3103 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Filippi Syndrome |
|
Wide nose, Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Wide nas... |
ORPHA:3255 |
Neu-Laxova Syndrome 1 |
|
Wide nose, Ventricular septal defect, Renal agenesis, Swollen lip, Cleft upper lip, Micrognathia,... |
OMIM:256520 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr... |
OMIM:267000 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Epistaxis, Recurrent pharyngitis, Vasculitis, Hematuria, Aorti... |
ORPHA:397 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Inguinal hernia, Abnormal oral mucosa morphology, Camptodactyly of finger, Underdeveloped nasal a... |
ORPHA:1968 |
Glutaric Acidemia I |
|
Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly |
OMIM:231670 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr... |
OMIM:601701 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Cleft upper lip |
OMIM:607371 |
Agnathia-Otocephaly Complex |
|
Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft p... |
OMIM:202650 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventriculomegaly, Hydrocephalus, Tubular luminal dilatation, Renal corticome... |
OMIM:219730 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite level, Microcephaly |
OMIM:272300 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Aplasia of the nasal bone, Jejunal atresia, Hypospadias, Ileal atresia, Micrognathia... |
OMIM:618820 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Hypospadias, Microcephaly, Meningocele, Abnormality of the ureter, Anomalous pulmo... |
ORPHA:2311 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary artery stenosis, Cle... |
OMIM:100300 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Ventricular septal defect, Renal cyst, Mitral valve prolapse,... |
OMIM:617107 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae |
OMIM:613456 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... |
OMIM:613458 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom... |
OMIM:300912 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abnormal cerebrospinal fl... |
ORPHA:79101 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale... |
OMIM:600001 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Prominent nose, Micrognathia, Ascending aorta hypoplasia,... |
OMIM:619503 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... |
OMIM:617865 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Flared nostrils, Wide nasal bridge, Thin vermilion border, Short columella, Anal atr... |
OMIM:182210 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Moderate albuminuria, Hydronephrosis, Delayed eruption of permanent teeth... |
OMIM:619269 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ... |
OMIM:301068 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Hiatus hernia, Myocarditis, Pyloric stenosis, Dilated cardiomyop... |
ORPHA:3342 |
Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Open ... |
ORPHA:950 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of the dentition, Gingival overgro... |
OMIM:169400 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Stroke-... |
OMIM:300845 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Prominent nasal bridge, Hypospadias, Long nose, Pierre-Robin sequence, Cleft pal... |
OMIM:619184 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Flexion contracture, Narrow palate, Micropenis, Downturned corners of mouth, Microp... |
OMIM:614222 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Deep philtrum, Short nose, Vas... |
OMIM:613320 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Arteria lusoria, Vesicoureteral reflux, Anteriorly placed anus, High palate, Hyp... |
OMIM:618653 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Abnormality of the ... |
ORPHA:2719 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Depressed nasal bridge, Hypospadias, Renal agenesis, Cleft upper lip, Malrotation o... |
OMIM:113620 |
Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Abnormality of the philtrum, Hypospadias, Cleft upper lip, Micro... |
ORPHA:280 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
ORPHA:488613 |
Distal Deletion 19P |
|
Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Keloids, Shor... |
ORPHA:96129 |
Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Micrognathia |
ORPHA:1514 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, Alveolar ridg... |
OMIM:602398 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Growth delay, Cardiomyopathy, Aminoaciduria, Nephrocalcinosis |
OMIM:616084 |
Aase-Smith Syndrome I |
|
Open mouth, Flexion contracture, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Anteverted nares, Lipodystrophy, Broad nasal tip, Carious teeth, Abnormal subcut... |
ORPHA:357074 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Thin vermilion border, High palate, Malar flattening, Short nose, Smooth philtrum |
OMIM:601853 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Vascular ring, Mitral regurgitation, Macrocephaly, Ventriculomegaly |
OMIM:603387 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias, Long philtrum |
OMIM:615877 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, High, narrow palate, Abnormality of the gingiva, Epispadias, D... |
ORPHA:3107 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular acidosis, Tongue... |
OMIM:614922 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Macrocephaly, Nephritis, Dandy-Walker malformation |
OMIM:217090 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... |
OMIM:620300 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:613603 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Atrial septal defect, Hypospadi... |
OMIM:309500 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Micrognathia, Bulbous nose, Depr... |
OMIM:156200 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Sub... |
ORPHA:457279 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bladder diverticula... |
ORPHA:2728 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect |
OMIM:616816 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Microcephaly |
OMIM:616362 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Panniculitis, Thick vermilion borde... |
ORPHA:2526 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Retrognathia, Short nose, Meckel diverticulum |
ORPHA:163961 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... |
OMIM:101600 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt... |
OMIM:618430 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Adams-Oliver Syndrome 2 |
|
Macrocephaly, Hydrocephalus, Lateral ventricle dilatation, Microcephaly |
OMIM:614219 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Umbilical hernia, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, High palate, Short nose |
OMIM:218000 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Depressed nasal bridge, Scarring alopecia of scalp, Flexion contracture, High palate, Microphthal... |
ORPHA:35173 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the kidney, Abnormality of the nose, Mic... |
ORPHA:171929 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Cardiomyopathy, V... |
ORPHA:370959 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Hernia, Atrial septal... |
ORPHA:363705 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... |
ORPHA:2237 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep p... |
OMIM:619833 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Hydrocephalus, Chronic kidney disease, Nephronophthisis, Ventriculomegaly |
OMIM:615630 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Inguinal hernia, Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental maloccl... |
OMIM:227330 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria |
OMIM:609560 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate |
OMIM:612370 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractures of the l... |
ORPHA:329178 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Craniofrontonasal Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Bifid nasal tip, Abnormality of th... |
OMIM:304110 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Subarachnoid hemorrhage, H... |
ORPHA:2356 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Micrognathia, Depressed nasal rid... |
OMIM:105650 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:276621 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ... |
OMIM:300855 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dilation of Virchow-Robin spa... |
OMIM:300998 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Short philtrum, High palate, Atri... |
OMIM:135900 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenos... |
OMIM:615415 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Flexion contra... |
OMIM:601812 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Congenital diaphragmatic hernia, Prominent nose... |
OMIM:301022 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Aminoaciduria, Depressed nasal bridge |
ORPHA:99688 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis, Long philtrum, Ret... |
ORPHA:73246 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Scarring alopecia of scalp, F... |
ORPHA:158684 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Under... |
OMIM:615485 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Inguinal hernia, Depressed nasal bridge, Micrognathia, Patent ductus arterio... |
OMIM:613610 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Neonatal death |
ORPHA:85212 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Concave nasal ridge, High palate, S... |
OMIM:170100 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Patent du... |
OMIM:618870 |
Macrocephaly/Autism Syndrome |
|
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, High palate, Long phi... |
OMIM:605309 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Microcephaly, Hemolytic-uremic syndrome, Cystathioninuria, Hydr... |
OMIM:277400 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach... |
OMIM:109400 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Inguinal hernia, Ventricular septal... |
ORPHA:261330 |
Joubert Syndrome 21 |
|
Anophthalmia, Single naris, Renal cyst, Hyperechogenic kidneys, Chronic sinusitis |
OMIM:615636 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus, Progressive macrocephaly |
ORPHA:616 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Ventriculomegaly |
ORPHA:2158 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Submucous cleft hard p... |
ORPHA:1340 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Orofacial ... |
ORPHA:261211 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Hypospadias, Choanal atresia, Cleft lip, Anosmia, De... |
OMIM:603457 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Micrognathia, Abnormally large g... |
OMIM:300749 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Malar flattening, Micrognathia, Absent frontal sinuses,... |
OMIM:154780 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Prominent nose, Micrognathia, Cleft palate,... |
ORPHA:447980 |
Monosomy 9P |
|
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ab... |
ORPHA:261112 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Fl... |
OMIM:180849 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Postnatal macrocephaly, Retinal telangiectasia, Microcephaly |
OMIM:620157 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bridge, Long ph... |
OMIM:616430 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hyd... |
OMIM:620327 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p... |
OMIM:263520 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Vesicoureteral reflux, Hypospadias,... |
ORPHA:353281 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Prominent nasal bridge, Limb join... |
ORPHA:505237 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Nephroblastoma, Narrow mouth, Card... |
ORPHA:77301 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Hypopl... |
ORPHA:79345 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Camptodactyly of fi... |
ORPHA:1488 |
Sotos Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad... |
OMIM:117550 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Increased CSF... |
OMIM:605711 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous retur... |
ORPHA:1120 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Pericardial effusion, Micropenis, High pa... |
OMIM:617822 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, Downturned corners of mouth, High palate, At... |
OMIM:619522 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Micrognathia, Bulbous nose, Dilate... |
OMIM:603736 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Everted lower lip vermilion,... |
ORPHA:2316 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Hypospadias, Hypercalciuria, Micropenis, Short nose |
OMIM:614732 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus, Pelvic kidney, Microcephaly |
OMIM:617244 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Median cleft lip and palate, Aplasia of the premaxilla, Proboscis, Sub... |
OMIM:157170 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Microcephaly, Increased urinary sulfite level, Xanthinuria, Growth dela... |
OMIM:252160 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Retrognath... |
ORPHA:561 |
Multiple Sulfatase Deficiency |
|
Short stature, Microcephaly, Hydrocephalus, Mucopolysacchariduria, Macrocephaly |
ORPHA:585 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Polycystic kidney dysplasia, Nephronophthisis, Dentinogenesis imperfec... |
OMIM:184260 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Hypospadias, Micrognathia, Patent ductus arteriosus, Wide na... |
ORPHA:2282 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Vesicoureter... |
ORPHA:567 |
Fibular Hemimelia |
|
Thoracoabdominal wall defect, Anophthalmia, Renal dysplasia, Abnormal heart morphology |
ORPHA:93323 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N... |
OMIM:161200 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Microcephaly, Increased CSF lactate, Growth delay, Aminoaciduria, Ventriculomegaly |
OMIM:614946 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Short lingual frenul... |
OMIM:617360 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature, Macrocephaly |
ORPHA:53 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Hypospadias, Micrognathia, Cleft palate, Umbilical hernia, Long philtrum, Microp... |
ORPHA:2505 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Diastasis recti, Broad nasal tip, Mi... |
OMIM:618548 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Abnormal nasal morphology, Short upper lip, Wide mouth, Anteriorly p... |
OMIM:200110 |
Gapo Syndrome |
|
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Retinal arteriolar... |
OMIM:230740 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernumerary tooth, Patent du... |
OMIM:617088 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Transaldolase Deficiency |
|
Ventricular septal defect, Depressed nasal bridge, Deep philtrum, Patent ductus arteriosus, Coarc... |
OMIM:606003 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Esophageal varix, Ventricular septal defect, Renal hypoplasia |
OMIM:616589 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Choanal stenosis, S... |
ORPHA:798 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Hydrocephalus, Biparietal narrowing, Nephropathy |
ORPHA:2318 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Macro... |
ORPHA:357001 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Coronal hypospadia... |
OMIM:619859 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Cleft palate, Buphthalmos, Congenital cont... |
OMIM:236670 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic her... |
OMIM:208050 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria |
OMIM:605899 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Deep philtrum, Hyposthenuria, Vesicoureteral reflux, Retrognathia, Hydronephr... |
OMIM:615926 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Pa... |
OMIM:300963 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... |
ORPHA:828 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, High palate, Short philtrum, Bifid uvula, Femoral hernia, Pate... |
OMIM:188400 |
Culler-Jones Syndrome |
|
Micropenis, Cleft palate, Cleft upper lip |
OMIM:615849 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Umbilical hernia, Hydronephrosis |
OMIM:619217 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... |
ORPHA:464321 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Long nose, Bulbous nose, Patent ductus arteriosus, High palate, Thick ... |
OMIM:620113 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares... |
OMIM:147791 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, In... |
OMIM:244450 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hydrocephalus, Pericarditis |
ORPHA:163596 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Microcephaly, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, N... |
OMIM:613404 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Micrognathia, Cleft palate, Abnormal heart morphology, Aminoaciduria, Polycystic kidney dysplasia... |
OMIM:214110 |
Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Hydrocephalus, Biparietal narrowing, Nephropathy |
ORPHA:220497 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Thin upper lip vermilion, Downturned corners of mouth, Short columella, Anal atresia |
ORPHA:3164 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... |
ORPHA:398124 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Abnormality of the dentition, Micrognathia, Complete atrio... |
ORPHA:476126 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Short stature, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal... |
OMIM:613388 |
Vater/Vacterl Association |
|
Renal dysplasia, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Hyp... |
OMIM:192350 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Stroke, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Narrow mouth, Bulbous nose, Coar... |
OMIM:614114 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Congenital contracture, Microphthalmia |
OMIM:613150 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Wide nose, Multicystic kidney dysplasia, Micrognathia, Depressed nasal ridg... |
ORPHA:1052 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria,... |
OMIM:208085 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Heparan sulfate excretion in urine, Congestive heart failure... |
OMIM:309900 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Short stature, Increased urinary O-linked sialo... |
ORPHA:812 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital dia... |
OMIM:618846 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Short nose |
OMIM:617802 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arte... |
ORPHA:137667 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Hypospadias, Abnormal... |
ORPHA:494344 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Optic disc hypoplas... |
OMIM:619306 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Patent ductus arteriosus, Cleft palate, Coarctation of aorta... |
ORPHA:3338 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Alg3-Cdg |
|
Microcephaly, Coarctation of the descending aortic arch, Neural tube defect, Cardiomyopathy, Dand... |
ORPHA:79321 |
Peho Syndrome |
|
Anteverted nares, Open mouth, Flexion contracture, Gingival overgrowth, Abnormal upper lip morpho... |
ORPHA:2836 |
Cystinosis |
|
Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Renal tubular dysfunction, ... |
ORPHA:213 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease |
ORPHA:1667 |
Brachydactyly, Type B1 |
|
Ventricular septal defect, Delayed eruption of permanent teeth, Camptodactyly, Micropenis, Joint ... |
OMIM:113000 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Underdeveloped nasal alae, Wide mouth, Thin vermilion bor... |
ORPHA:217346 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Pulmonic stenosis, Camptodactyl... |
OMIM:619123 |
Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Macrodontia, Protruding... |
OMIM:212066 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly |
ORPHA:2211 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus, Macrocephaly |
OMIM:620343 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
King-Denborough Syndrome |
|
Ventricular septal defect, Broad nasal tip, Deep philtrum, High palate, Low hanging columella |
OMIM:619542 |
Meckel Syndrome 14 |
|
Microretrognathia, Anteverted nares, Micrognathia, Polycystic kidney dysplasia, Microphthalmia, R... |
OMIM:619879 |
Canavan Disease |
|
Macrocephaly, Elevated urinary N-acetylaspartic acid level, Increased CSF N-acetylaspartic acid c... |
OMIM:271900 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:2180 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect |
ORPHA:357225 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... |
OMIM:618590 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R... |
OMIM:601803 |
Desbuquois Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Apl... |
ORPHA:1425 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Enuresis, Syncope, Macrocephaly, Ventriculomegaly |
OMIM:616260 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Pericarditis, Villous atrophy, Depressed nasal bridge, Proteinuria, Per... |
OMIM:212065 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis... |
ORPHA:1393 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Contracture of the proximal interphalangeal joint of t... |
OMIM:301044 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ... |
ORPHA:85194 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Hypodontia, Short nose |
ORPHA:544503 |
Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Hydrocephalus, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Intr... |
OMIM:300514 |
Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Patent ductus arteriosus, Hydrocephalus, Macrocephaly, Lethal short-li... |
ORPHA:1860 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Urinary incontinence, Congestive heart failure, Hydrocephalus, ... |
OMIM:616482 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... |
OMIM:600145 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Tetralogy of Fallot |
OMIM:250620 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Lymph... |
OMIM:602579 |
Eec Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Choanal atresia, Renal hypoplasia/aplasia, Cariou... |
ORPHA:1896 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Camptodactyly of finger, Micrognathia, Ureteral obst... |
ORPHA:1826 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Zttk Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Unilateral renal agenesis, Abnormality of the ... |
OMIM:617140 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v... |
ORPHA:289 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Microcephaly, Hydrocephalus, Intrauterine growth retardation, Bruisi... |
OMIM:612940 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Anteverted nares, Broad nasal tip, Cleft palate, Renal cyst, Failure of eruption... |
OMIM:272460 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Disproportionate short-limb short stature, Macrocephaly, Neonatal death, Lethal sh... |
OMIM:187600 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Underdeveloped nasal alae, Micrognathia, Pyloric stenosis, Contracture of the di... |
ORPHA:83617 |
Keutel Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... |
ORPHA:85202 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Abnormality of the kidney, Hydrocephalus, Telangiectasia, Umbilical hernia, Macroce... |
ORPHA:93400 |
Cousin Syndrome |
|
Micrognathia, Alveolar ridge overgrowth, Cleft palate, Camptodactyly, Microphthalmia, Microglossi... |
OMIM:260660 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
Tetrasomy 5P |
|
Pericallosal lipoma, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the abdominal wall mus... |
ORPHA:3309 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Hydronephrosis |
OMIM:222300 |
Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Hypospadias, Cleft upper lip, Cleft palate, Micropenis, Hypoplasia o... |
OMIM:615465 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Lathosterolosis |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Horseshoe... |
ORPHA:46059 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... |
ORPHA:534 |
Syndromic Diarrhea |
|
Villous atrophy, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Gastritis, Pa... |
ORPHA:84064 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, F... |
ORPHA:90324 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi... |
OMIM:619268 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Larsen Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cleft upper lip, Cleft palate, Hypodontia, Atr... |
OMIM:150250 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Macrocephaly, Proximal tubulo... |
OMIM:231680 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Dilated cardio... |
ORPHA:261250 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Ventricular septal defect, Anteverted nares, Hypospadias, Cleft palate, Thin... |
ORPHA:254346 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Short stature, Methylmalonic aciduria, Increased CSF lactate |
OMIM:612073 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Cardiomyopathy, Tu... |
OMIM:251000 |
Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Hematuria, Oral cavity bleeding,... |
ORPHA:324636 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Ventriculom... |
OMIM:615219 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Wide mouth, Micropenis, Hydronephrosis, Duoden... |
OMIM:617798 |
Fibrochondrogenesis 2 |
|
Malar flattening, Short nose, Anteverted nares, Micrognathia |
OMIM:614524 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulum, Congenital diaphragmatic he... |
OMIM:616546 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Prominent nose, Abnormal periodontium morphology, High palate, Atrial septal defect, Depressed na... |
ORPHA:480880 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Bifid uvula, Penoscr... |
OMIM:270400 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Abnormalit... |
OMIM:601088 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:29072 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorptio... |
ORPHA:452 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Deep philtrum, Non... |
ORPHA:647 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Dental crowding, Micrognat... |
ORPHA:2789 |
Steinfeld Syndrome |
|
Abnormal heart morphology, Aplasia of the nose, Microphthalmia, Unilateral renal dysplasia, Bifid... |
OMIM:184705 |
Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:310400 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Depressed nasal bridge, Hypospadias, Elbow contracture, Micrognathia, Cleft palate, ... |
OMIM:304120 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Hypoplasia of the maxil... |
OMIM:609460 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Increased CSF lactate, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:436271 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Micrognathia... |
OMIM:608013 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Hematu... |
OMIM:185070 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Anteverted nares, Prominen... |
ORPHA:769 |
Muenke Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:53271 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Anteriorly... |
OMIM:261540 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Micropenis, Retrognathia, Pen... |
OMIM:617164 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Dental crowding, Aganglionic megacolon, Cleft upper lip, Hyp... |
OMIM:309800 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Ureteral duplication, Depressed nasal bridge, Accessory oral frenulum, Micrognat... |
OMIM:266920 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Orofacial cleft, High palate, Atria... |
OMIM:607872 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, Short philtrum... |
OMIM:616268 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption... |
ORPHA:50 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Ventriculomegaly, Spina bifida, Microcephaly |
OMIM:616038 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Abnormal renal morphology, Vesicoureteral refl... |
OMIM:609053 |
Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia |
OMIM:248390 |
Cohen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Macrodontia,... |
ORPHA:193 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Knee flexion contracture, High palate, Atrial septal defect, Wrist flexion contract... |
OMIM:268300 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... |
OMIM:617159 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Aganglionic megacolon, Hypospadias, U... |
OMIM:308205 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Ventricular septal defect, Prominent nasal bridge, Hypospadias, Un... |
ORPHA:464311 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Aminoaciduria, Ketonuria |
OMIM:614520 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasi... |
OMIM:620330 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Ventricular septal defect, Campto... |
ORPHA:354 |
Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Abnormality of the sense of smell, Hydronephr... |
ORPHA:140 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:103050 |
Joubert Syndrome 2 |
|
Renal insufficiency, Depressed nasal bridge, Renal cyst, High palate, Nephronophthisis, Microphth... |
OMIM:608091 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Malar... |
ORPHA:93259 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
B4Galt1-Cdg |
|
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Wide mouth, Ventricular septal defect, Prominent nasal bridge, Widely-spaced incisors |
OMIM:617635 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio... |
OMIM:616037 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flexion contracture, Limb ... |
OMIM:620369 |
Multiple Sulfatase Deficiency |
|
Short stature, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ventric... |
OMIM:272200 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Broad nasal tip, Abnormality of the ... |
ORPHA:363611 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,... |
OMIM:191100 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Hig... |
OMIM:300472 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Anteve... |
OMIM:166250 |
Costello Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormality... |
ORPHA:3071 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Micrognathia, ... |
ORPHA:495875 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
D-Glyceric Aciduria |
|
Microcephaly, Patent ductus arteriosus, Growth delay, Aminoaciduria, Bradycardia, Micropenis |
OMIM:220120 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Narrow nasal tip, Prominent nasal bridge,... |
ORPHA:464306 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Microcephaly, Venous insufficiency, Arterial stenosis, Intracranial ... |
ORPHA:565 |
Leber Congenital Amaurosis 1 |
|
Growth delay, Hyperthreoninuria |
OMIM:204000 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate,... |
ORPHA:989 |
Alagille Syndrome |
|
Ventricular septal defect, Micrognathia, Long nose, Renal hypoplasia/aplasia, Abnormality of the ... |
ORPHA:52 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Wide nose, Ventricular septal defect, Camptodactyly of finger, Unilateral ... |
ORPHA:261337 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Desbuquois Dysplasia 1 |
|
Microretrognathia, Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Malar flattening, S... |
OMIM:251450 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Anteverted nares... |
OMIM:601358 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Distal Deletion 3P |
|
Inguinal hernia, Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mouth, Thin ... |
ORPHA:1620 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... |
OMIM:619005 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Prominent nose, Micrognathia, Patent ductus arteriosus, ... |
ORPHA:96191 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature |
ORPHA:381 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Recurrent pharyngitis, Myo... |
ORPHA:2331 |
Argininemia |
|
Diaminoaciduria |
ORPHA:90 |
Orofaciodigital Syndrome X |
|
Retrognathia, Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border |
ORPHA:1185 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Aspergillosis |
|
Intracranial hemorrhage, Stroke, Abnormality of the kidney |
ORPHA:1163 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... |
ORPHA:353277 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Bulbous nose, ... |
ORPHA:251014 |
2P21 Microdeletion Syndrome |
|
Growth delay, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Omodysplasia 1 |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Pulmonary artery stenosis, Wide ... |
OMIM:258315 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Macrocephaly |
OMIM:616294 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Micrognathia, Recurrent sinusit... |
OMIM:604173 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp... |
ORPHA:79404 |
Schneckenbecken Dysplasia |
|
Malar flattening, Short nose, Umbilical hernia, Cleft palate |
OMIM:269250 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Inguinal hernia, Ante... |
OMIM:618332 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... |
ORPHA:306542 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Increased CSF lactate, Renal tubular dysfunction, Aminoaciduria, ... |
OMIM:220110 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:609942 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed... |
OMIM:616835 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Bicuspid aortic valve, Truncu... |
ORPHA:508498 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Esophageal atresia, Pulmonary artery stenosis,... |
OMIM:301030 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Hypospadias, Abnormality of the nose, P... |
ORPHA:1708 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Atrial septal defe... |
OMIM:194050 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Bilateral renal hypoplasia, High palate, Atrial septal defect, Pate... |
OMIM:619488 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus ar... |
OMIM:121050 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose, Fetal pyelectasis, Long philtrum |
ORPHA:50810 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th... |
OMIM:612289 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Ventricular septal defect, Abno... |
ORPHA:500095 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Progressive microcephaly, Microcephaly |
OMIM:615249 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... |
OMIM:615803 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Arteriovenous mal... |
ORPHA:974 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Atrial septa... |
ORPHA:290 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Growth delay, Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Ventricular septal defect, Congenital diaphragmatic hernia, M... |
OMIM:616777 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Abnormal renal morp... |
ORPHA:363700 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
D-Glyceric Aciduria |
|
Increased CSF glycine concentration, Hyperglycinuria, Progressive microcephaly, Microcephaly |
ORPHA:941 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anteverted nares, Micrognathia, Wide nasal bridge, Gin... |
OMIM:607330 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Flexion contracture, E... |
ORPHA:505248 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Aortic valv... |
OMIM:614185 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Renal cyst, Polycysti... |
ORPHA:137675 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Patent ductus arter... |
ORPHA:85276 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Ventricular septa... |
OMIM:147920 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cleft ... |
OMIM:309801 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Depressed nasal bridge, Hypospadias, Urolithiasis, Hyperuricosuria, Wide mou... |
OMIM:300661 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Micrognathia, Cleft palate, Renal cyst, High palate, Poly... |
OMIM:614866 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... |
ORPHA:90068 |
Myasthenic Syndrome, Congenital, 22 |
|
Short stature, Cystinuria |
OMIM:616224 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Malrotatio... |
OMIM:194190 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh... |
OMIM:613038 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Micrognathia, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos... |
OMIM:617913 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, ... |
ORPHA:1454 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Abnormalit... |
OMIM:612394 |
Fountain Syndrome |
|
Spina bifida occulta, Short stature, Spina bifida, Macrocephaly |
ORPHA:3219 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Inguinal hernia, Depressed nasal bridge, Proteinuria, Con... |
ORPHA:1272 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Micrognathia, Cleft palate, Horseshoe kidney, Abnormal cardiac septum ... |
ORPHA:3320 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal ab... |
ORPHA:436252 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aortic root aneurysm, Short philtrum, Camptodactyly, Atrial septal def... |
OMIM:301039 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy... |
OMIM:208540 |
Fumarase Deficiency |
|
Relative macrocephaly, Bilateral fetal pyelectasis, Increased urine succinate level, Microcephaly... |
OMIM:606812 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Anal stenosis, Ventricular septal defect, ... |
OMIM:606170 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria |
ORPHA:664 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Biparietal narrowing |
ORPHA:475 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Cleft lip, Dysplastic tricusp... |
ORPHA:1724 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage |
OMIM:618886 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent... |
ORPHA:411634 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Patent ductus arteriosus, G... |
OMIM:612863 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Situs inversus tota... |
ORPHA:1449 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Short stature, Microcephaly, Hydrocephalus, Micropenis, Dilated third vent... |
ORPHA:500055 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Hig... |
ORPHA:1974 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Hiatus hernia, Cleft upper lip, Cleft palate, Lip... |
OMIM:304050 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... |
ORPHA:3205 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Macrocephaly, I... |
OMIM:616914 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hyp... |
OMIM:269150 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Short stature, Hydrocephalus, Disproportionate short-trunk short stature... |
OMIM:253200 |
Sirenomelia |
|
Renal hypoplasia/aplasia, Abnormality of the urinary system, Spina bifida, Sirenomelia |
ORPHA:3169 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Fetal pyelectasis, Vesicoureteral reflux, Atrial septal defect, Thick nasa... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Fetal pyelectasis, Vesicoureteral reflux, Atrial septal defect, Thick nasa... |
ORPHA:363958 |
Pettigrew Syndrome |
|
Microcephaly, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
Limb Body Wall Complex |
|
Ventral hernia, Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Abnormality o... |
ORPHA:2369 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Polycystic kidney dysplasia, Hype... |
OMIM:617866 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... |
ORPHA:2152 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Hydroureter, Aganglionic megacolon, Abnormal dental enamel morpholo... |
ORPHA:2273 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Hydranencephaly |
|
Ventriculomegaly, Postnatal growth retardation, Abnormal internal carotid artery morphology, Dila... |
ORPHA:2177 |
Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Heparan sulfate excretion in u... |
OMIM:253220 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit... |
ORPHA:157 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
U-Shaped upper lip vermilion, Inguinal hernia, Hypospadias, Micrognathia, Wide nasal bridge, Hors... |
OMIM:609945 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... |
ORPHA:411709 |
Bladder Exstrophy And Epispadias Complex |
|
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly... |
OMIM:600057 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Depressed nasal bridge, Renal cyst |
OMIM:614862 |
Hurler Syndrome |
|
Aortic regurgitation, Short stature, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan ... |
OMIM:607014 |
Warsaw Breakage Syndrome |
|
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula |
OMIM:119500 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Hydrocephalus, Vesicoureteral reflux... |
OMIM:619951 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Arthrogryposis multiplex... |
OMIM:614961 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart |
ORPHA:2772 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Wide nasal ... |
OMIM:620073 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Advanced eruption of te... |
OMIM:615873 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Depressed nasal bridge, Ventricular septal defect, Long nose, Bulbo... |
OMIM:118450 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Elbow flexion con... |
OMIM:178110 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele |
ORPHA:3329 |
Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Thick lower lip vermili... |
ORPHA:2785 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Short stature, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Kyphomelic Dysplasia |
|
Micrognathia, Depressed nasal bridge, Cleft palate, Cleft upper lip |
OMIM:211350 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
47,Xyy Syndrome |
|
Hydrocephalus, Micropenis, Hypospadias, Macrocephaly |
ORPHA:8 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Prominent nose, Micrognathia, Widely spaced teeth, ... |
OMIM:612474 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Inguinal hernia, Anteverted nares, Rectal prolapse, Thick lower... |
OMIM:303600 |
Osteogenesis Imperfecta |
|
Relative macrocephaly, Aortic regurgitation, Aortic dissection, Short stature, Rhizomelia, Cerebr... |
ORPHA:666 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature |
OMIM:224400 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Glomerulopathy, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden c... |
ORPHA:906 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Venous insufficiency, Hydrocephalus, Macrocephaly |
ORPHA:2969 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... |
OMIM:277600 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Wide nose, Peripheral pulmonary artery stenosis, Ventricular septal def... |
OMIM:617506 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... |
ORPHA:261537 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia, Macrocephaly |
ORPHA:15 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Growth delay, Pulmonary a... |
OMIM:614857 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Thoracic a... |
ORPHA:536467 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Dysuria, Prominent nose, Increased overbite, Abnormal nostril morphology, Hydronephrosis |
ORPHA:101000 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Inguinal hernia, Ventricular septal defect, Prominent nasal b... |
ORPHA:268261 |
Leigh Syndrome |
|
Congestive heart failure, Generalized aminoaciduria, Lacticaciduria, Methylmalonic aciduria, Grow... |
ORPHA:506 |
Tempi Syndrome |
|
Intracranial hemorrhage, Abnormality of the kidney, Telangiectasia |
ORPHA:284227 |
Netherton Syndrome |
|
Aminoaciduria, Ectopic kidney, Hydronephrosis, Malabsorption |
ORPHA:634 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia, Flexion co... |
ORPHA:536471 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, De... |
OMIM:300967 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Biparietal narrowing |
ORPHA:220493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:616538 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Malar flattening, S... |
OMIM:601353 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis |
OMIM:619431 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Malar flattening, Concave nasal ridge, Hydronephrosis |
OMIM:302960 |
Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia, Short stature, Macrocephaly |
ORPHA:2268 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Abnormality of the dentition, Micrognathia, Esophageal atres... |
ORPHA:506358 |
Monosomy 18Q |
|
Left-to-right shunt, Short stature, Microcephaly, Left aortic arch with right descending aorta an... |
ORPHA:1600 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... |
ORPHA:261552 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Growth delay, Int... |
ORPHA:79284 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Micrognathia, Renal hypoplasia, Cleft palate, High palate, Microphthalmia, Microglo... |
OMIM:607932 |
Occipital Horn Syndrome |
|
Hiatus hernia, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, High palate, Long phil... |
OMIM:304150 |
Unilateral Ocular Duplication |
|
Median cleft lip, Cleft palate |
ORPHA:3374 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Depressed nasal ridge, Atrial septal defect, Atrioventricular canal defect, Micro... |
ORPHA:672 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Growth delay, Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Prominent nose, L... |
ORPHA:2636 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Flexion contracture, Absence of subcutaneous fat, Triangul... |
OMIM:601675 |
Geleophysic Dysplasia 1 |
|
Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Wide mouth, Aorti... |
OMIM:231050 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Flexion contracture, Renal hyp... |
OMIM:619321 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar flattening, Sho... |
OMIM:616723 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia |
ORPHA:2119 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
Fg Syndrome Type 1 |
|
Short stature, Hypospadias, Hydrocephalus, Coarctation of aorta, Pulmonary arterial hypertension,... |
ORPHA:93932 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Severe short stature, Microcephaly |
ORPHA:1865 |
Superficial Siderosis |
|
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he... |
ORPHA:247245 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Bulbous nose, Elbow flexion co... |
ORPHA:508533 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Dental crowding, Bulbous nose, Dental malocclusion, Wide nasal bridge, Umbilical... |
ORPHA:48652 |
Atelosteogenesis Type I |
|
Malrotation of colon, Multiple renal cysts, Cleft palate, Micrognathia |
ORPHA:1190 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Depressed nasal bridge, Hamartoma of tongue, Esophageal diverticulum, Micrognathia, ... |
OMIM:617925 |
Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, ... |
ORPHA:2363 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Orofacia... |
ORPHA:1556 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertension, Unilateral rena... |
ORPHA:49041 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Hypospadias, Abnormality of the... |
ORPHA:235 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Micrognathia, Contractures of the large joints, High palate, Long phi... |
OMIM:617527 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Hypovolemia, Bicarbonaturia,... |
ORPHA:47159 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Renal insufficiency, Ventriculomegaly, Short stature, Hypospadias, Rhizo... |
ORPHA:397715 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Hydrocephalus, Hematochezia, Renal tubular acidosis, Lateral ventricle dilatation,... |
OMIM:619575 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Double inlet left ventricle, Thin ... |
OMIM:619869 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Flexion contracture, Micropenis, Microphthalmia, Short nose |
OMIM:614225 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
D-Bifunctional Protein Deficiency |
|
Depressed nasal bridge, Micrognathia, Renal cyst, High palate, Long philtrum, Retrognathia |
OMIM:261515 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Plaa-Associated Neurodevelopmental Disorder |
|
Tented upper lip vermilion, Micrognathia, Contractures of the large joints, High palate, Long phi... |
ORPHA:521426 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Hypospadias, Micrognathia,... |
ORPHA:444077 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Ventriculomegaly |
OMIM:614643 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Depressed nasal bridge, Abnormal heart valve morpholog... |
ORPHA:1606 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Flexion c... |
OMIM:616007 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly, Progressive microcephaly, Micropenis |
OMIM:614969 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Convex nasal ridge, Wide nasal bridge, Renal cyst |
OMIM:601539 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge |
ORPHA:110 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Macrocephaly |
OMIM:618476 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopa... |
ORPHA:26791 |
8Q24.3 Microdeletion Syndrome |
|
Bilateral renal hypoplasia, Cleft maxillary alveolar ridge, Vesicoureteral reflux, Atrioventricul... |
ORPHA:508488 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormality of the dentition, Micrognathia, Generalized lipodystrophy, Narrow mouth, Short nose, ... |
ORPHA:90154 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Short stature, Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased u... |
ORPHA:90795 |
Trichohepatoenteric Syndrome 1 |
|
Wide nose, Villous atrophy, Anteverted nares, Ventricular septal defect, Hypospadias, Depressed n... |
OMIM:222470 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Prominent nose, Long nose, Micrognathia, Bulb... |
ORPHA:3047 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Micrognathia, Coarctati... |
ORPHA:50945 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Ventricular septal defect, Long philtrum, Uterine prolapse, Convex nasal ridge, ... |
OMIM:123700 |
Dend Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum |
ORPHA:79134 |
Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, High, narrow palate, Intracranial hemorrhage, Short philtrum, Hi... |
OMIM:613406 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery steno... |
OMIM:162200 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Short stature, Micropenis |
OMIM:602361 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Micrognathia, Supernume... |
OMIM:268400 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Choanal atresia, Cleft palate, Rectovaginal fistula... |
OMIM:270420 |
X Small Rings |
|
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Fet... |
ORPHA:96201 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... |
ORPHA:464329 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Cystine crystalluria, Nephrolithiasis, Cystinuria |
OMIM:606407 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature, Unilateral renal agenesis |
ORPHA:1064 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, Dental crowding, Br... |
OMIM:617157 |
Rabin-Pappas Syndrome |
|
Hydrocephalus, Postnatal macrocephaly, Retinal telangiectasia, Microcephaly |
OMIM:620155 |
Campomelic Dysplasia |
|
Irregular dentition, Depressed nasal bridge, Hypospadias, Micrognathia, Carious teeth, Contractur... |
OMIM:114290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencephaly, Transposition of the gre... |
OMIM:253800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Broad nasal tip, Micrognathia, Nar... |
OMIM:309590 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t... |
OMIM:613717 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:236270 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... |
OMIM:608328 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Gr... |
ORPHA:18 |
Al-Gazali Syndrome |
|
Wrist flexion contracture, Hydronephrosis, Micrognathia |
OMIM:609465 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Short nose |
OMIM:618087 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Patent... |
OMIM:605275 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Microcephaly |
OMIM:617281 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Patent ductus a... |
ORPHA:457395 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Jejunal atresia, Micrognathia, E... |
OMIM:164280 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Pericarditis, Intestinal obstruction, Sinusitis, Epistaxis, Ureteral stenosis, Ab... |
ORPHA:900 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Cardiac rha... |
OMIM:613254 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Hypercalciuria, Growth delay, Nephrocalcinosis, Ren... |
ORPHA:2088 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Anteverted nares, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy... |
OMIM:601559 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Ventricular septal defect, Lipodystrophy, Small, coni... |
ORPHA:2962 |
Hyperlysinemia |
|
Short stature, Abnormal CSF ornithine concentration, Microcephaly, Argininuria, Decreased CSF arg... |
ORPHA:2203 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect,... |
ORPHA:513456 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:99880 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth, ... |
ORPHA:199 |
Joubert Syndrome 1 |
|
Anteverted nares, Protruding tongue, Renal cyst, Macroglossia, Triangular-shaped open mouth, Neph... |
OMIM:213300 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Generalized aminoaciduri... |
OMIM:227810 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus, Short stature, Microcephaly |
ORPHA:220295 |
Dextrocardia |
|
Abnormal EKG, Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter, T-wave inversi... |
ORPHA:1666 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Short stature, Microcephaly, Subdural hemorrhage, Macrocephaly, Intrauterine growth retardation |
OMIM:619714 |
Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B... |
ORPHA:83628 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Macrocephaly |
ORPHA:65285 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Inguinal hernia, Ventricular ... |
ORPHA:459070 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro... |
ORPHA:30 |
Mucopolysaccharidosis Type 1 |
|
Short stature, Congestive heart failure, Hydrocephalus, Mucopolysacchariduria, Macrocephaly, Hype... |
ORPHA:579 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Neurogenic bladder, Tented upper lip vermilion, Ventricular septal defect,... |
ORPHA:488632 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Macrocephaly |
OMIM:259700 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Micrognathia |
ORPHA:1129 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Aneurysm-Osteoarthritis Syndrome |
|
High palate, Abdominal aortic aneurysm, Bifid uvula, Arterial tortuosity, Patent ductus arteriosu... |
ORPHA:284984 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria |
OMIM:250940 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Flexion contracture, Short nose, Micrognathia |
OMIM:615851 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:143 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Microcephaly |
OMIM:613776 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Anteverted nares, Ventricular septal defect, Shoulder flexion contracture, Promi... |
OMIM:210710 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Hypotension, Acute ... |
ORPHA:244242 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Depressed nasal bridge, Cleft soft palate, Micr... |
ORPHA:124 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Downturned corners ... |
ORPHA:3455 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmos, Cleft palate, Abnorma... |
OMIM:154500 |
Cystic Echinococcosis |
|
Renal cyst, Abnormal heart morphology, Membranous nephropathy, Ovarian cyst, Hepatic cysts |
ORPHA:400 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Inguinal hernia, Aspartylglucosaminuria, Abnormality of the dentition, Car... |
ORPHA:93 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridg... |
OMIM:139210 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Arterial tortuos... |
OMIM:609192 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Short stature |
ORPHA:23 |
Pfeiffer Syndrome Type 1 |
|
High palate, Short nose, Depressed nasal bridge |
ORPHA:93258 |
Phaver Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger, Hypoplastic aortic ar... |
ORPHA:2876 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Short stature, Abnormal renal tubule morphology |
ORPHA:2720 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Fat malabsorption, Renal cyst, Steatorrhea |
ORPHA:79303 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect, Tented upper lip vermilion, Anteverted nares |
OMIM:615673 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bladder diverticulum, ... |
ORPHA:536545 |
Mpdu1-Cdg |
|
Renal cortical cysts, Thin vermilion border, Prominent frontal sinuses |
ORPHA:79323 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect, Abnormal medullary pyramid morphology |
ORPHA:79243 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Ventricular septal defect, Choanal atresia, Hypospadias, Compl... |
OMIM:617063 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Convex nasal ridge, Micrognathia, Hydronephrosis, Absent uvula |
OMIM:600383 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp... |
ORPHA:3452 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic h... |
OMIM:614437 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal... |
OMIM:617667 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... |
OMIM:615287 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Microretrognathia, Patent ductus arteriosus, Ventricular septal de... |
OMIM:619909 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... |
OMIM:615355 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Ventricular septal defect, Hamartoma of tongue, Micrognathia, Cle... |
OMIM:615948 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Relative macrocephaly, Increased urine deoxypyridinoline level, Short stature, Hypercalciuria, Ma... |
OMIM:239000 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... |
OMIM:619534 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Generalized aminoaciduria, B... |
ORPHA:3337 |
Phakomatosis Pigmentokeratotica |
|
Nephroblastoma, Spina bifida, Raynaud phenomenon, Renal transitional cell carcinoma, Unilateral r... |
ORPHA:2874 |
Knobloch Syndrome |
|
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Vesicoureteral reflux, Bifid ur... |
ORPHA:1571 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Ventricular septal defect, Anteverted nares, Camptodactyly of fing... |
OMIM:602782 |
Arima Syndrome |
|
Dilated fourth ventricle, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hy... |
OMIM:243910 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Ureteral duplication, Renal malrotation, Ventricular septal defect, Antevert... |
OMIM:274000 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Fanconi Anemia |
|
Short stature, Hypospadias, Spina bifida, Patent ductus arteriosus, Abnormal carotid artery morph... |
ORPHA:84 |
Diphallia |
|
Duplicated colon, Ureteral duplication, Rectoperineal fistula, Hypospadias, Renal malrotation, Di... |
ORPHA:227 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Microcephaly, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly |
OMIM:259720 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala... |
ORPHA:93924 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micrognathia, High, narrow palate, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:2879 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Renal ... |
ORPHA:3138 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the ureter, Elbow f... |
OMIM:200980 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Methioninuria, Stroke, Homocystinuria, Myocardial infarction |
OMIM:236200 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Microcephaly, Postnatal growth retardation, Macroceph... |
ORPHA:168577 |
Congenital Disorder Of Glycosylation, Type If |
|
Thin vermilion border, Flexion contracture, Renal cortical cysts |
OMIM:609180 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e... |
OMIM:261740 |
Yunis-Varon Syndrome |
|
Cardiomegaly, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... |
ORPHA:3472 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Hurler Syndrome |
|
Short stature, Angina pectoris, Hydrocephalus, Growth delay, Cardiomyopathy, Hypertension, Mucopo... |
ORPHA:93473 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Short stature |
OMIM:618480 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Wide nasal bridge, High palate, Long philtrum, Short nose, Dilatation o... |
ORPHA:319182 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bif... |
ORPHA:500150 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Homocitrullinuria |
OMIM:238970 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli... |
OMIM:235730 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Deep philtrum, Anomalous orig... |
ORPHA:438213 |
Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Ventricular septal defect, Congenital diaphragmatic hernia, Bulbous nose, Muscu... |
OMIM:157800 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Deeah Syndrome |
|
Malabsorption, Narrow palate, Micropenis, High palate, Short philtrum, Narrow mouth, Prominent na... |
OMIM:619004 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia |
OMIM:620351 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Increased head circumference, Lateral ventricle dilatation |
OMIM:612301 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Patent ductus arteriosu... |
OMIM:618188 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Micrognathia, Aminoaciduria, Protein-losing enteropathy, Atrial ... |
OMIM:619991 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Aganglionic megacolon, Anteverted nares, Hypospadias, Epispadias, Abno... |
ORPHA:3339 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Depressed nasal bridge, Pyloric stenosis, Patent ductus arteriosus,... |
OMIM:267750 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Short stature, Renal agenesis, Microcephaly, Ectopic kidney, Patent... |
OMIM:227646 |
Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge, Triangular mouth |
OMIM:617988 |
Chand Syndrome |
|
Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre... |
ORPHA:1401 |
Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Macrocephaly |
OMIM:100800 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge,... |
ORPHA:466791 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria, Short stature |
OMIM:609220 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi... |
OMIM:236700 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Proteinuria, Polyuria, Generalized aminoac... |
OMIM:219800 |
Carpenter Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Dextrocardia, Situs inversus totalis, High, narrow pala... |
OMIM:614976 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Unilateral renal agenesis, Hydrocephalus, Dispr... |
OMIM:101800 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Abnormal heart morphology, Cl... |
OMIM:101400 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve morphology, Abn... |
ORPHA:857 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu... |
OMIM:271510 |
Hartnup Disease |
|
Abnormal urinary color, Short stature, Neutral hyperaminoaciduria |
ORPHA:2116 |
Tryptophanuria With Dwarfism |
|
Conjunctival telangiectasia, Severe short stature, Tryptophanuria |
OMIM:276100 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Inguinal hernia, Hydronephrosis, Anal atresia |
OMIM:271520 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus, Hypertension |
ORPHA:1555 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s... |
OMIM:619229 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Postnatal growth retar... |
OMIM:620305 |
Neu-Laxova Syndrome |
|
Spina bifida, Microcephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventricul... |
ORPHA:2671 |
Holoprosencephaly 1 |
|
Proboscis, Single ventricle, Aplasia of the nose, Microphthalmia, Micropenis, Median cleft lip an... |
OMIM:236100 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Atrial ... |
ORPHA:821 |
Epidermal Nevus Syndrome |
|
Lipoma, Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Episp... |
ORPHA:434179 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Growth delay, Renal tubular dysfunctio... |
ORPHA:411629 |
Meningioma |
|
Hydrocephalus, Syncope, Urinary incontinence, Cerebral hemorrhage |
ORPHA:2495 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility, Rhizomelia |
OMIM:618162 |
Cadds |
|
Short nose, Micrognathia |
ORPHA:369942 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Renal phosphate wasting, Long philtrum, Short nose |
OMIM:258480 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Esophagitis |
ORPHA:541423 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Esophageal varix, Renal hypo... |
ORPHA:84081 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Short stature, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Homocystinuria |
OMIM:277380 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Inguinal hernia, ... |
OMIM:619525 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Delayed puberty |
ORPHA:91348 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Decreased CSF albumin concentration, Generalized aminoaciduria, Decreased CSF biopterin level, Pr... |
ORPHA:404454 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose,... |
OMIM:245150 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Choanal atresia, Multicystic kid... |
OMIM:107480 |
Coccidioidomycosis |
|
Pericarditis, Renal insufficiency, Abnormality of the kidney, Broad skull, Hydrocephalus, Vasculi... |
ORPHA:228123 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Lateral ventricle dilatation, Normal pressure hydrocephalus, Macroc... |
ORPHA:300570 |
Osteogenesis Imperfecta, Type Vii |
|
Hypoplastic pulmonary veins, Absent pulmonary artery, Dentinogenesis imperfecta, Long philtrum, H... |
OMIM:610682 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Progressive flexion contractures, Atrial septal defect, Prominent nasal... |
ORPHA:522077 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cleft palate, High palate, Short philtrum, Ureteropelvic junction obstruction... |
OMIM:616973 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Growth delay, Generalized aminoaciduria, Portal hypertension, Microcephaly |
OMIM:251880 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Unilateral renal agenesis, Hypospadias, Enlarged polycys... |
ORPHA:95699 |
Restrictive Dermopathy |
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Natal tooth, Aplasia/Hypoplasia involving the nose, Ureteral duplication, Hypospadias, Dextrocard... |
ORPHA:1662 |
Congenital Gerbode Defect |
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Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Alexander Disease |
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Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Macrocephaly |
ORPHA:58 |
Nephronophthisis-Like Nephropathy 1 |
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Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Growth delay, Generalized aminoaciduria |
OMIM:264700 |
Diamond-Blackfan Anemia 5 |
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Ventricular septal defect, Hypospadias |
OMIM:612528 |
Crouzon Syndrome |
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Hydrocephalus |
OMIM:123500 |
Craniopharyngioma |
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Proportionate short stature, Myocardial infarction, Postnatal growth retardation, Hydrocephalus, ... |
ORPHA:54595 |
Gaucher Disease, Type Iiic |
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Hydrocephalus, Mitral stenosis, Calcification of the aorta |
OMIM:231005 |
Glycogen Storage Disease Ii |
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Wolff-Parkinson-White syndrome, Right axis deviation, Urinary incontinence, Subarachnoid hemorrha... |
OMIM:232300 |
Hyperparathyroidism, Neonatal Severe |
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Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria |
OMIM:239200 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Micrognath... |
OMIM:620025 |
Lysinuric Protein Intolerance |
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Short stature, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Oroticaciduria, Pul... |
OMIM:222700 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft palate, Ureterocele, U... |
ORPHA:1934 |
Hutchinson-Gilford Progeria Syndrome |
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Relative macrocephaly, Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular s... |
ORPHA:740 |
Fanconi Anemia, Complementation Group C |
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Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Flexion ... |
OMIM:227645 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele, Ventriculomegaly |
OMIM:601707 |
Senior-Loken Syndrome 3 |
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Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Underdevelop... |
OMIM:243800 |
Congenital Tracheal Stenosis |
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Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort... |
ORPHA:141127 |
Lymphangioleiomyomatosis |
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Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Mu... |
ORPHA:538 |
1P21.3 Microdeletion Syndrome |
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Wide mouth, Short nose, Micrognathia, Broad nasal tip |
ORPHA:293948 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Micropenis, Anteverted n... |
OMIM:619475 |
Hand-Foot-Genital Syndrome |
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Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... |
ORPHA:2438 |
Erdheim-Chester Disease |
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Renal insufficiency, Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, ... |
ORPHA:35687 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Hydrocephalus, Abnormal renal morphology |
OMIM:207410 |
Idiopathic Hypereosinophilic Syndrome |
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Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Dilation of Virchow-Robin spaces, Microcephaly, Aqueductal stenosis, Hydrocephalus, Fetal pyelect... |
OMIM:619512 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Hypertension, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:123790 |
Mucopolysaccharidosis Type 3 |
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Heparan sulfate excretion in urine, Hydrocephalus, Atrioventricular block, Reduced left ventricul... |
ORPHA:581 |
Riddle Syndrome |
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Conjunctival telangiectasia, Short stature, Microcephaly, Intraventricular hemorrhage, Telangiect... |
ORPHA:420741 |
Trichohepatoneurodevelopmental Syndrome |
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Ventricular septal defect, Dental crowding, Bulbous nose, Patent ductus arteriosus, Downturned co... |
OMIM:618268 |
Fanconi Anemia, Complementation Group L |
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Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Growth delay, Intrauterine growth ret... |
OMIM:614083 |
Laubry-Pezzi Syndrome |
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Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Apert Syndrome |
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Hypertension, Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus |
ORPHA:3016 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Umbilical hernia, Hydrocephalus, Aortic aneurysm, Microcephaly |
OMIM:182212 |
Mody |
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Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, CSF pleocytosis, Hyperten... |
ORPHA:139417 |
Alveolar Echinococcosis |
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Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat... |
ORPHA:284 |
Atelosteogenesis, Type I |
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Depressed nasal bridge, Micrognathia, Cleft palate, Malar flattening, Short nose |
OMIM:108720 |
Achondrogenesis, Type Ia |
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Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Short nose |
OMIM:200600 |
Mietens Syndrome |
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Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Sponastrime Dysplasia |
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Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... |
ORPHA:93357 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Micropenis |
ORPHA:2519 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Short stature, Postnatal growth retardation, Bicarbonatur... |
OMIM:309000 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Ventricular septal defect, Depressed nasal bridge |
OMIM:618325 |
Autosomal Recessive Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Pancreatic cysts, Esophage... |
ORPHA:731 |
Molybdenum Cofactor Deficiency, Complementation Group C |
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Neonatal death, Increased urinary taurine |
OMIM:615501 |
Pearson Syndrome |
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Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy... |
ORPHA:699 |
Wilson Disease |
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Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... |
OMIM:277900 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
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Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Mgat2-Cdg |
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Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Abnormal heart morphology, ... |
ORPHA:79329 |
Joubert Syndrome 5 |
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Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
Trichothiodystrophy |
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Multiple joint contractures, Ventricular septal defect, Hypoplasia of mandible relative to maxill... |
ORPHA:33364 |
17Q12 Microdeletion Syndrome |
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Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Argininosuccinic Aciduria |
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Aminoaciduria, Oroticaciduria, Elevated CSF argininosuccinic acid concentration |
OMIM:207900 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ... |
OMIM:618733 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Depressed nasal bridge, Micrognathia, Renal hypoplasia, Thin vermilion... |
ORPHA:3404 |
Ileal Neuroendocrine Tumor |
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Hydronephrosis, Intestinal fistula, Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Postnatal growth retardation, Short stature, Generalized aminoaciduria |
ORPHA:289157 |
Brain-Lung-Thyroid Syndrome |
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Ventricular septal defect, Hypospadias, Megacystis, Vesicoureteral reflux, Abnormal cardiac septu... |
ORPHA:209905 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Duplicated collecting system, Inguinal hernia, Ventricular septal defect, High palate, Pulmonic s... |
OMIM:607721 |
Abeta Amyloidosis, Dutch Type |
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Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Rhizomelia, Hydrocephalus, Short stature, Aortic root aneurysm |
OMIM:245600 |
Cockayne Syndrome A |
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Renal insufficiency, Short stature, Proteinuria, Microcephaly, Micropenis, Severe postnatal growt... |
OMIM:216400 |
Hallermann-Streiff Syndrome |
|
Proportionate short stature, Spina bifida, Microcephaly, Telangiectasia, Hypertension, Pulmonary ... |
OMIM:234100 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary artery stenosis, Hydrocephalus, Growth delay, Macrocephaly, Pulmonary arterial hyperten... |
ORPHA:667 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hydrocephalus, Hypoplastic aortic arch, Ventriculomegaly, Unilateral renal agenesis |
ORPHA:457284 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Costello Syndrome |
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Renal insufficiency, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Microgn... |
OMIM:218040 |
Alkaptonuria |
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Coronary artery calcification, Myocardial infarction, Nephrolithiasis, Hypertension, Aminoaciduri... |
ORPHA:56 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Microcephaly, Mitral regurgitation, Umbilical hernia, Ventriculomegaly |
ORPHA:2462 |
Autoinflammatory Disease, Systemic, X-Linked |
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Cerebral hemorrhage |
OMIM:301081 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... |
OMIM:609242 |
Dpagt1-Cdg |
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Intracranial hemorrhage, Stroke-like episode, Prolonged QT interval, Microcephaly |
ORPHA:86309 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Increased urinary cortisol level |
ORPHA:199244 |
Gaucher Disease |
|
Abnormal bleeding, Short stature, Proteinuria, Hydrocephalus, Hematuria, Pulmonary arterial hyper... |
ORPHA:355 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Ventricular septal defect |
OMIM:610832 |
Citrullinemia, Type Ii, Adult-Onset |
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Argininosuccinic aciduria |
OMIM:603471 |
Cerebellofaciodental Syndrome |
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Ventricular septal defect, Dental malocclusion, Mitral valve prolapse, Taurodontia, Macrodontia o... |
OMIM:616202 |
Hypoplasminogenemia |
|
Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation |
ORPHA:722 |
Proteus Syndrome |
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Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Enlar... |
ORPHA:744 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Short stature, Telangiectasia of the skin, Microcephaly, Telangiecta... |
ORPHA:910 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e... |
ORPHA:91500 |
Mend Syndrome |
|
Short stature, Hydrocephalus, Aortic valve stenosis, Crossed fused renal ectopia, Dandy-Walker ma... |
OMIM:300960 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neonatal death, Hy... |
OMIM:124000 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Elbow flexion contracture, Knee flex... |
OMIM:271665 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Aortic regurgitation, Recurrent urinary tract infections, Oligosacch... |
ORPHA:309282 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Micrognathia, High, narrow palate, Patent ductus arterios... |
OMIM:163950 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Cockayne Syndrome B |
|
Renal insufficiency, Severe short stature, Proteinuria, Microcephaly, Postnatal growth retardatio... |
OMIM:133540 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... |
ORPHA:892 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Hydrocephalus, Macrocep... |
ORPHA:2658 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Growth delay, Varico... |
ORPHA:2072 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketonuria, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Flexion contracture, Corneal scarring, High palate, Open mouth |
OMIM:614653 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Long p... |
OMIM:619727 |
Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Short stature, Aortic valve stenosis |
ORPHA:401973 |
Argininemia |
|
Postnatal growth retardation, Diaminoaciduria, Oroticaciduria |
OMIM:207800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Flexion contracture, Cleft palate... |
OMIM:271640 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Ureterocele |
OMIM:614863 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:617011 |
Lysinuric Protein Intolerance |
|
Abnormal bleeding, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial... |
ORPHA:470 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... |
OMIM:618775 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Ventricular septal defect, Depressed nasal bridge, Wide nasal bridge, High palate |
OMIM:619418 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:277410 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus, Short stature, Horseshoe kidney, Macrocephaly |
ORPHA:221120 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria |
OMIM:602080 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Sho... |
OMIM:619841 |
Neurofibromatosis Type 1 |
|
Short stature, Abnormality of the upper urinary tract, Hydrocephalus, Arterial stenosis, Macrocep... |
ORPHA:636 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Stillbirth, Short umbilical cord, Small placenta, Intrauterine growth retardation |
OMIM:208150 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Marfan Syndrome |
|
Congestive heart failure, Descending aortic dissection, Meningocele, Dilatation of an abdominal a... |
ORPHA:558 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Short stature, Peripheral arterial stenosis, Growth delay, Cardiomyo... |
ORPHA:580 |
Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Multiple joint contractures, Antev... |
ORPHA:79318 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Delayed eruption of teeth, Ventricular septal defect, Mitral stenosis, T... |
OMIM:143095 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, Ventriculomegaly, Macrocephaly |
ORPHA:457359 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria |
OMIM:615486 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Caroli Disease |
|
Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Depressed nasal bridge |
OMIM:615503 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Spina bifida, Coarctation of aorta |
OMIM:619480 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly, Microcephaly |
OMIM:253280 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Short stature, Hypospadias, Hydrocephalus, Long penis, Macrocephaly, Intra... |
OMIM:264090 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Coffin-Siris Syndrome 12 |
|
Short stature, Hypospadias, Microcephaly, Noncommunicating hydrocephalus, Heart murmur, Horseshoe... |
OMIM:619325 |
Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Abnormality of the kidney, Hydrocephalus, Severe intrauterin... |
OMIM:218600 |
Caroli Syndrome |
|
Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:3042 |
Acromesomelic Dysplasia 1 |
|
Short nose |
OMIM:602875 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Inguinal hernia, Ventricular septal defect, Pyloric stenosis, Elbow flexion contra... |
OMIM:181450 |
Eisenmenger Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, ... |
ORPHA:97214 |
Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Premature loss of primary ... |
OMIM:216340 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Aspartylglucosaminuria |
|
Mitral regurgitation, Aspartylglucosaminuria, Short stature, Microcephaly |
OMIM:208400 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Homocystinuria |
OMIM:601552 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:259770 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Disproportionate short stature, Hypospadias |
OMIM:276820 |