Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Acalvaria |
|
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele... |
OMIM:601357 |
Schisis Association |
|
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly, Tracheoes... |
ORPHA:63862 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum |
ORPHA:1906 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Cleft palate, Cleft upper lip |
OMIM:600251 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Cleft palate |
OMIM:302905 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate |
OMIM:603194 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Occipital encephalocele, Hydrocephalus, Orofacial cleft |
ORPHA:324416 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis |
ORPHA:2476 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Triploidy |
|
Omphalocele, Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft pal... |
ORPHA:3376 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Caudal Duplication |
|
Omphalocele, Myelomeningocele, Intestinal duplication, Spina bifida |
ORPHA:1756 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Isolated Anencephaly |
|
Omphalocele, Cleft lip, Congenital diaphragmatic hernia |
ORPHA:563609 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth |
OMIM:183300 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Ane... |
OMIM:313850 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Cleft palate, Coloboma, Abnormal oral frenulum morphology, Short philtrum |
ORPHA:1617 |
Rhiny |
|
Inguinal hernia, Thin vermilion border |
OMIM:180360 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Iris coloboma, Chorioretinal coloboma, Cleft upper lip |
OMIM:120433 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Meckel diverticulum, Long philtrum |
OMIM:190440 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Miller-Dieker Syndrome |
|
Omphalocele, Abnormal upper lip morphology |
ORPHA:531 |
Distal Duplication 15Q |
|
Omphalocele, Camptodactyly of finger, Downturned corners of mouth, High palate, Long philtrum, An... |
ORPHA:1707 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Autoimmune Hypoparathyroidism |
|
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... |
ORPHA:36913 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Anterior basal encephalocele, Wi... |
OMIM:136760 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Hernia, Double Inguinal |
|
Inguinal hernia |
OMIM:142350 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Joubert Syndrome 15 |
|
Coloboma, Exencephaly |
OMIM:614464 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Donnai-Barrow Syndrome |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Iris colo... |
ORPHA:2143 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:613630 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Hydrocephalus... |
ORPHA:1335 |
Iniencephaly |
|
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydr... |
ORPHA:63259 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
Constricting Bands, Congenital |
|
Omphalocele, Encephalocele, Cleft upper lip, Cleft palate, Gastroschisis, Bladder exstrophy |
OMIM:217100 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Isolated Hemihyperplasia |
|
Inguinal hernia, Myelomeningocele, Abnormality of the dentition |
ORPHA:2128 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Coloboma, Chorioretinal coloboma, Iris coloboma, Abnormal palate morphology |
ORPHA:921 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia |
ORPHA:95706 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Pai Syndrome |
|
Encephalocele, Median cleft lip, Midline central nervous system lipomas, Cleft palate, Bifid uvul... |
ORPHA:1993 |
Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Short philtrum, Downturned corners of mouth |
ORPHA:93267 |
Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus |
ORPHA:141333 |
Joubert Syndrome 16 |
|
Encephalocele, Coloboma |
OMIM:614465 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate |
ORPHA:217 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia |
OMIM:601163 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Congenital diaphragmatic hernia, Abnormality of the dentition, Myelomeningocele,... |
ORPHA:94065 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth... |
OMIM:618529 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Orofacial cleft,... |
ORPHA:2166 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma |
OMIM:610023 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Alobar holoprosenceph... |
OMIM:610828 |
Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypocalcemia |
OMIM:606407 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia |
OMIM:175500 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Encephalocele, Cleft upper lip, Hydrocephalus, Holoprosencephaly, Cyclopia, Anal atr... |
OMIM:264480 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Esophageal a... |
ORPHA:3380 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly, Anal atresia |
OMIM:601389 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Spina bifida, Camptodactyly, Joint contracture of the hand, Long philtrum |
OMIM:211960 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum |
OMIM:614583 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Coloboma, Holoprosencephaly, Torus palatinus, So... |
OMIM:147250 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia |
OMIM:616025 |
Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Ane... |
ORPHA:887 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placenta, Flexion c... |
ORPHA:254528 |
Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Cleft palat... |
ORPHA:261344 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong... |
ORPHA:2092 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94089 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma |
OMIM:274270 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Short phi... |
OMIM:618316 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, High, narrow palate, Deep philtrum, Narro... |
OMIM:158170 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Umbilical hernia, Diastasis recti, Large placenta |
ORPHA:254534 |
Coach Syndrome 2 |
|
Coloboma, Hydrocephalus, Chorioretinal coloboma |
OMIM:619111 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Coloboma Of Macula And Skeletal Anomalies |
|
Macular coloboma, Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger |
OMIM:216800 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... |
ORPHA:2059 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Coloboma, Sh... |
OMIM:614424 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Intestinal malrotation, Aqueductal stenosis |
ORPHA:3035 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fistula, Gingival ... |
ORPHA:1834 |
Branchio-Oculo-Facial Syndrome |
|
Deep philtrum, Non-midline cleft lip, Orofacial cleft, Atypical scarring of skin, Coloboma, Tooth... |
ORPHA:1297 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Flexion contracture, Smooth philtrum, Congenital diaphragmatic hernia |
OMIM:263210 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Encephalocele, Camptodactyly of finger, Myelomeningocele, Pierre-Robin sequence, Hyd... |
ORPHA:90652 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Umbilical hernia, Inguinal hernia, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Camptodactyly of finger, Cleft palate |
ORPHA:957 |
Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad... |
ORPHA:93929 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Natal tooth, Encephalocele, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete... |
OMIM:616300 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Col... |
ORPHA:329224 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... |
OMIM:200990 |
Carpenter Syndrome 1 |
|
Omphalocele, Persistence of primary teeth, Spina bifida occulta, Agenesis of permanent teeth, Hig... |
OMIM:201000 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip... |
OMIM:300373 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Iris coloboma |
ORPHA:1104 |
Donnai-Barrow Syndrome |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Iris colo... |
OMIM:222448 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Cleft palate, Coloboma, Long philtrum |
OMIM:615583 |
Holoprosencephaly |
|
Omphalocele, Encephalocele, Median cleft lip, Bilateral cleft lip, Congenital diaphragmatic herni... |
ORPHA:2162 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate |
OMIM:217150 |
Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Hydrocephalus, Coloboma, Cleft palate |
OMIM:220210 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Inguinal hernia, High palate, Cleft palate |
ORPHA:1135 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Cleft li... |
OMIM:618454 |
Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Thin upper lip vermilion, Flexion contracture, Cleft palate, Long philtrum, Neonatal... |
OMIM:619124 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of... |
OMIM:269860 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... |
ORPHA:79444 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability |
ORPHA:428 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
3Mc Syndrome 1 |
|
Omphalocele, Dental crowding, Diastasis recti, Cleft upper lip, Cleft lip, Abnormality of the abd... |
OMIM:257920 |
Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Arthrogryposis multiplex congenita, Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate |
OMIM:614120 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Long philtrum |
OMIM:608149 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Cleft palate |
ORPHA:66637 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Open mouth |
OMIM:616789 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
Marcus-Gunn Syndrome |
|
Cleft lip, Coloboma, Cleft palate |
ORPHA:91412 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Selective tooth agenesis, Cleft palate, Multiple impacted teeth, Narrow mouth |
OMIM:311300 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Narrow mouth, Joint contracture of ... |
OMIM:611961 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Narrow palate, Macroglossia, High palate, Long philtrum |
OMIM:617022 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Long philtrum |
OMIM:145420 |
Fibrochondrogenesis 1 |
|
Omphalocele, Cleft palate, Stillbirth, Narrow mouth, Joint contracture of the hand, Camptodactyly... |
OMIM:228520 |
Hypophosphatasia |
|
Irritability, Hypercalcemia |
ORPHA:436 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia |
OMIM:119580 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion |
OMIM:601927 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Abnormality of... |
OMIM:247200 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rect... |
OMIM:243150 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Long philtrum |
OMIM:617895 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:611561 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perma... |
OMIM:616894 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia, Inappropriate laughter |
OMIM:618476 |
Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Thick lower lip vermilion,... |
ORPHA:1692 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Median cleft lip, Orofacial cleft, Holoprosencephaly, Cyclopia, Iris coloboma |
ORPHA:3186 |
Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft lip, Tracheoeso... |
ORPHA:2745 |
Rhabdoid Tumor |
|
Irritability, Hypercalcemia |
ORPHA:69077 |
Holoprosencephaly 11 |
|
Cleft lip, Holoprosencephaly, Cleft palate |
OMIM:614226 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, High palate, Long philtrum, Smooth philtrum |
OMIM:609625 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Fibrochondrogenesis |
|
Omphalocele, Camptodactyly of finger, Cleft palate, Narrow mouth |
ORPHA:2021 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
C Syndrome |
|
Omphalocele, Accessory oral frenulum, Wide mouth, High palate, Thick anterior alveolar ridges |
OMIM:211750 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Exaggerated cupid's bow, Wide mouth, Coloboma, Narrow mouth, Smooth philtrum, Long philtrum |
OMIM:618659 |
Enlarged Parietal Foramina |
|
Cleft lip, Occipital encephalocele, Myelomeningocele, Cleft palate |
ORPHA:60015 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate |
OMIM:601355 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Hydrocephalus |
OMIM:613153 |
Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma, Anal atresia |
OMIM:617695 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Neurooculocardiogenitourinary Syndrome |
|
Downturned corners of mouth, Coloboma, Smooth philtrum |
OMIM:618652 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma, Thin vermilion border, Gingival overgrowth, Long philtrum |
ORPHA:464288 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Anal atresia |
OMIM:619318 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... |
ORPHA:79443 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Occipital encephalocele, Hydrocephalus, Coloboma |
ORPHA:370959 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Omphalocele, Occipital encephalocele, Int... |
OMIM:249000 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
D-Lactic Aciduria With Gout |
|
Aniridia, Inguinal hernia |
OMIM:245450 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Median cleft lip, Holoprosencephaly, Cleft palate |
ORPHA:2165 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Umbilical hernia, Microcolon, Intestinal malrotation |
ORPHA:2241 |
Alg3-Cdg |
|
Lipodystrophy, Macroglossia, Neural tube defect, High palate, Arthrogryposis multiplex congenita,... |
ORPHA:79321 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spi... |
OMIM:305600 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Esophageal varix, Wide mouth, Coloboma |
OMIM:216360 |
Melnick-Needles Syndrome |
|
Omphalocele, Tooth malposition, Delayed eruption of teeth |
ORPHA:2484 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Tracheoesoph... |
ORPHA:1199 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Addictive alcohol use, Hypocalcemia, Euphoria |
ORPHA:31826 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Velocardiofacial Syndrome |
|
Emotional lability, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Narrow mouth,... |
ORPHA:251028 |
Joubert Syndrome 22 |
|
Coloboma |
OMIM:615665 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Coloboma, Premature ... |
ORPHA:199276 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Depression |
OMIM:212750 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Kagami-Ogata Syndrome |
|
Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Large placenta, Broad philtrum |
ORPHA:254519 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Iris coloboma |
ORPHA:371428 |
Hypophosphatasia, Infantile |
|
Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia |
OMIM:241500 |
Fryns Syndrome |
|
Omphalocele, Meckel diverticulum, Tented upper lip vermilion, Aganglionic megacolon, Intestinal m... |
OMIM:229850 |
Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, ... |
ORPHA:1752 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Deep philtrum, Optic disc coloboma, Cleft palate, Downt... |
ORPHA:251014 |
Aase-Smith Syndrome I |
|
Open mouth, Flexion contracture, Hydrocephalus, Cleft palate |
OMIM:147800 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Omphalocele, Pyloric stenosis, Hydrocephalus, Gingival overgrowth,... |
OMIM:602535 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anteriorly placed anus |
OMIM:248450 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Oeis Complex |
|
Omphalocele, Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rec... |
OMIM:258040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Hydrocephalus, Flexion contracture |
OMIM:615249 |
Cree Mental Retardation Syndrome |
|
Coloboma, Cleft soft palate |
OMIM:606851 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression |
OMIM:600740 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hydrolethalus |
|
Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cleft, Unilateral... |
ORPHA:2189 |
Srd5A3-Cdg |
|
Coloboma, Oligodontia |
ORPHA:324737 |
Unilateral Ocular Duplication |
|
Encephalocele, Median cleft lip, Iris coloboma, Cleft palate |
ORPHA:3374 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Coloboma, Hig... |
OMIM:603457 |
Osteopetrosis, Autosomal Recessive 5 |
|
Irritability, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Pagod Syndrome |
|
Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Meningocele |
ORPHA:991 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Omphalocele, Diastasis recti, Pyloric stenosis, Thin vermilion border, Hypodonti... |
OMIM:618419 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate |
OMIM:611134 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Coloboma, ... |
ORPHA:453499 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
ORPHA:476126 |
Fraser Syndrome |
|
Omphalocele, Encephalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, De... |
ORPHA:2052 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Hydrocephalus, Cystocele, Abnormality ... |
ORPHA:322 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Lipomas of eyelids |
OMIM:167730 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cleft upp... |
ORPHA:373 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Flexion contracture, Cleft palate, ... |
OMIM:263650 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele |
ORPHA:3329 |
C Syndrome |
|
Omphalocele, Accessory oral frenulum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the ... |
ORPHA:1308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Hydrocephalus, Cleft palate, Colo... |
OMIM:236670 |
Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Congenital diaphragmatic herni... |
ORPHA:2322 |
Microphthalmia, Syndromic 5 |
|
Coloboma, Cleft palate |
OMIM:610125 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Alg9-Cdg |
|
Omphalocele, Thin upper lip vermilion, Villous atrophy, Lipodystrophy, Wide mouth, Long philtrum,... |
ORPHA:79328 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... |
ORPHA:449291 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate |
OMIM:607361 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ... |
ORPHA:1519 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Holoprosencephaly 3 |
|
Cleft lip, Cleft palate, Holoprosencephaly, Solitary median maxillary central incisor, Cyclopia, ... |
OMIM:142945 |
Melnick-Needles Syndrome |
|
Omphalocele, Delayed eruption of teeth, Cleft palate, Stillbirth, Tooth malposition |
OMIM:309350 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:352665 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Thin upper lip vermilion, Downturned corners of mouth, Anal atresia |
ORPHA:3164 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma |
OMIM:612379 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Gitelman Syndrome |
|
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia |
ORPHA:358 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Pearson Syndrome |
|
Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia |
ORPHA:699 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdontia, Umbilical h... |
ORPHA:920 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele |
OMIM:200995 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Rectovaginal fistula, Enamel hypoplasia, Anal atresia |
OMIM:600373 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Anencephaly, Cleft palate, Severe hydrocephalus |
OMIM:236680 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Long philtrum |
ORPHA:2211 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Tented upper lip vermilion, Interphalangeal joint contracture of finger, Diastasis r... |
ORPHA:96334 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Diastasis recti, Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesoph... |
OMIM:265380 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Posteriorly placed anus, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Anal ... |
OMIM:306955 |
Autosomal Dominant Keratitis |
|
Aniridia, Coloboma |
ORPHA:2334 |
Limb Body Wall Complex |
|
Ventral hernia, Encephalocele, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Cl... |
ORPHA:2369 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Jejunal atresia, Ileal atresia, Holoprosencephaly, Long philtrum |
OMIM:618820 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, C... |
ORPHA:116 |
Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti... |
ORPHA:2729 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Attention deficit hyperactivity disorder, Depression |
ORPHA:567 |
Charge Syndrome |
|
Omphalocele, Anal stenosis, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft... |
OMIM:214800 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intestinal atresia |
ORPHA:436252 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Lipomas of eyelids, Multiple lipomas |
ORPHA:2399 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hamartoma of tongue, Accessory oral frenulum, Hydrocephalus, Ane... |
OMIM:616546 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Thin vermilion border, Anal atresia |
OMIM:182210 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Abnormality of dental color |
OMIM:163200 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h... |
ORPHA:1393 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... |
ORPHA:2250 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Macroglossia, Coloboma, Retinal coloboma, Thick vermilion border |
OMIM:617107 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma |
OMIM:617306 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Hydrocephalus, Cleft palate, Narrow mouth, Umbilica... |
OMIM:304120 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma |
OMIM:610256 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma, Re... |
OMIM:600145 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short upper lip, Anteriorly placed anus, Wide mouth, Camptodactyly |
OMIM:200110 |
Bohring-Opitz Syndrome |
|
Cleft lip, Bilateral wrist flexion contracture, Cleft palate, Coloboma, Congenital contracture, P... |
ORPHA:97297 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Impulsivity, Hypomagnesemia, Bruxism, Stereotypical body rocking, Low frustration tolerance, Hypo... |
OMIM:619503 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Spina bifida, High, narrow palate, Talon cusp, Dental ... |
OMIM:180849 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia |
OMIM:207800 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Spina bifida, Coloboma, Retinal coloboma, Long philtrum, Iris coloboma |
ORPHA:508498 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate |
ORPHA:99742 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Furrowed tongue, Coloboma, High palate, Broad alveolar ridges, Smooth philtrum, Duoden... |
OMIM:616975 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, Semilobar ... |
OMIM:301043 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Macrodontia, Cleft palate, Coloboma, Camptodactyly, High palate, Short ... |
OMIM:309500 |
Addison Disease |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
Cardiac Diverticulum |
|
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti |
ORPHA:1686 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, High, narrow palate, Short uvula, Hydrocephalus, Broad philtrum, Colobo... |
OMIM:619475 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Macroglossia, Diastasis recti |
OMIM:130650 |
Acro-Renal-Ocular Syndrome |
|
Aganglionic megacolon, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Iris coloboma |
ORPHA:959 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Cleft palate, Neonatal death, Umbilical hernia |
OMIM:308205 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Coloboma, Long philtrum |
OMIM:615877 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:99880 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula |
OMIM:119500 |
Parathyroid Carcinoma |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:143 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Camptodac... |
ORPHA:2273 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac... |
OMIM:601803 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal... |
ORPHA:93271 |
Digeorge Syndrome |
|
Hypocalcemia, Attention deficit hyperactivity disorder |
OMIM:188400 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... |
ORPHA:93924 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... |
ORPHA:353281 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Anorexia |
ORPHA:97282 |
Ppoma |
|
Hypercalcemia, Anorexia |
ORPHA:97278 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Glucagonoma |
|
Hypercalcemia, Anorexia, Depression |
ORPHA:97280 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma |
ORPHA:85167 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Somatostatinoma |
|
Hypercalcemia, Anorexia |
ORPHA:97283 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... |
ORPHA:353277 |
Grfoma |
|
Hypercalcemia, Anorexia |
ORPHA:97261 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Coloboma |
OMIM:206900 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Aganglionic megacolon, Abnormality of the gingiva, An... |
ORPHA:798 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Roberts-Sc Phocomelia Syndrome |
|
Ankle flexion contracture, Cleft upper lip, Hydrocephalus, Frontal encephalocele, Elbow flexion c... |
OMIM:268300 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... |
OMIM:300990 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Coloboma, Hydrocephalus, Everted lower lip vermilion |
OMIM:253280 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:619950 |
Microphthalmia, Syndromic 6 |
|
Cleft palate, Coloboma, High palate, Microglossia, Bifid uvula |
OMIM:607932 |
Proximal Renal Tubular Acidosis |
|
Coloboma, Enamel hypomineralization, Malabsorption |
ORPHA:47159 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Depression |
ORPHA:652 |
Williams Syndrome |
|
Hypercalcemia, Elevated circulating creatine kinase concentration, Depression, Compulsive behavio... |
ORPHA:904 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Coloboma, Everted lower li... |
OMIM:619534 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Williams-Beuren Syndrome |
|
Obsessive-compulsive trait, Hypercalcemia, Attention deficit hyperactivity disorder |
OMIM:194050 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Sotos Syndrome |
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Hypercalcemia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:821 |
Diamond-Blackfan Anemia |
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Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon |
ORPHA:124 |
Sarcoidosis |
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Hypercalcemia |
ORPHA:797 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate |
ORPHA:268261 |
Viss Syndrome |
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Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |