Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ... |
OMIM:300067 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Vomiting, Diarrhea, Abdominal distention |
ORPHA:35122 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu... |
OMIM:604213 |
Trehalase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Abdominal distention |
ORPHA:103909 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Lissencephaly 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... |
OMIM:611603 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital... |
ORPHA:352682 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Vomiting, Abdominal distention |
ORPHA:313906 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Band Heterotopia |
|
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... |
OMIM:600348 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Colonic Atresia |
|
Abdominal distention |
OMIM:303650 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, Diarrhea, Projectile vomiting, Abdominal distention, Feeding d... |
OMIM:620045 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abdominal pain, Abdominal distention, Dyspepsia, Nausea, Chronic diarrhea |
ORPHA:103907 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Neonatal death, Wide nasal bridge, Colpocephaly |
OMIM:614870 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Agyria, Pachygyria |
ORPHA:1084 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G... |
ORPHA:2924 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia |
OMIM:608097 |
Adiposis Dolorosa |
|
Constipation, Abdominal distention |
OMIM:103200 |
Primary Peritoneal Carcinoma |
|
Abdominal pain, Constipation, Abdominal distention, Nausea and vomiting |
ORPHA:168829 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatic failure, Feeding difficulties, Abdominal distention, Death in infancy |
OMIM:618528 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:945 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... |
OMIM:604317 |
Lissencephaly 5 |
|
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Subcortical band he... |
OMIM:615191 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Abdominal pain, Abdominal distention, Malnutrition, Gastrointestinal dysmotility, Constipation, I... |
OMIM:613662 |
Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Constipation, Abdominal distention |
OMIM:193250 |
Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... |
ORPHA:101030 |
Diarrhea 12, With Microvillus Atrophy |
|
Abdominal distention, Vomiting, Secretory diarrhea, Dependency on parenteral nutrition |
OMIM:619445 |
Primary Effusion Lymphoma |
|
Abdominal pain, Abdominal distention |
ORPHA:48686 |
Cap Polyposis |
|
Diarrhea, Abdominal pain, Abdominal distention, Constipation, Hematochezia |
ORPHA:160148 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... |
OMIM:616212 |
Athyreosis |
|
Feeding difficulties, Constipation, Abdominal distention |
ORPHA:95713 |
Enterocolitis |
|
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia |
OMIM:226150 |
Atresia Of Small Intestine |
|
Feeding difficulties, Vomiting, Abdominal distention |
ORPHA:1201 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Protuberant abdomen |
ORPHA:221054 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Optic atrophy, Simplified gyral pattern, Communicating hydrocephalus, Li... |
OMIM:615219 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Partial age... |
OMIM:616171 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
Thyroid Hemiagenesis |
|
Constipation, Abdominal distention |
ORPHA:95719 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Depressed nasal ridge, Abdominal distention, Short nose, Occipital encephalocele |
OMIM:613885 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Prominent nasal bridge, Torticollis, Abdominal distention |
ORPHA:3010 |
Congenital Short Bowel Syndrome |
|
Decreased intestinal transit time, Vomiting, Projectile vomiting, Abdominal distention, Chronic d... |
OMIM:615237 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appetite, Decreas... |
ORPHA:298 |
Achondrogenesis, Type Ib |
|
Stillbirth, Abdominal distention |
OMIM:600972 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Abnormal cortical gyration, Polymicrogyria |
OMIM:619602 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Abdominal pain, Abdominal distention, Anorexia, Nausea, Recurrent infection of the gas... |
ORPHA:51890 |
Autosomal Recessive Primary Microcephaly |
|
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Folinic Acid-Responsive Seizures |
|
Optic atrophy, Dystonia, Abdominal distention |
ORPHA:79097 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Depressed nasal bridge, Constipation, Prot... |
ORPHA:226313 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Abnormality of neuronal migration, Wide nasal bridge, 4-layered lissencephaly, Microli... |
ORPHA:89844 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Abdominal pain, Abdominal distention, Gastroparesis |
OMIM:277320 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
Achondrogenesis Type 1A |
|
Anteverted nares, Abdominal distention, Short nose |
ORPHA:93299 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Constipation, Abdominal distention |
ORPHA:168816 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Death in childhood, Abdominal distention, Death in infancy |
OMIM:619423 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Cleft ala nasi |
OMIM:164180 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus, Short nose, Anteverted nares, Choanal atresia |
ORPHA:1895 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Vomiting, Diarrhea, Death in infancy, Abdominal distention, Decreased liver function, Neonatal death |
OMIM:608104 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Agyria, Hydroc... |
OMIM:614643 |
Hemimegalencephaly |
|
Gray matter heterotopia, Optic atrophy, Pachygyria, Abnormal neuron morphology, Polymicrogyria |
ORPHA:99802 |
Permanent Congenital Hypothyroidism |
|
Feeding difficulties, Constipation, Abdominal distention |
ORPHA:226292 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Abdominal distention |
ORPHA:103910 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Ileus |
ORPHA:168811 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... |
OMIM:207950 |
Wolman Disease |
|
Malnutrition, Hepatic failure, Abdominal distention, Nausea and vomiting |
ORPHA:75233 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Glucose-Galactose Malabsorption |
|
Vomiting, Diarrhea, Abdominal distention, Malnutrition, Hyperactive bowel sounds |
ORPHA:35710 |
Secondary Short Bowel Syndrome |
|
Vomiting, Enterocolitis, Diarrhea, Small intestinal dysmotility, Aganglionic megacolon, Abdominal... |
ORPHA:95427 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Depressed nasal bridge, Anteverted nares, Protuberant abdomen |
OMIM:618272 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Feeding difficulties in infancy, Vomiting, Intestinal pseudo-obstruction, Abdominal distention |
OMIM:300048 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Diarrhea, Abdominal pain, Episodic vomiting, Abdominal distention, Nausea, Constipation |
ORPHA:100924 |
Liver Failure, Infantile, Transient |
|
Vomiting, Death in infancy, Feeding difficulties in infancy, Abdominal distention, Acute hepatic ... |
OMIM:613070 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Depressed nasal bridge, Holopros... |
ORPHA:93274 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Gonadoblastoma |
|
Abdominal pain, Abdominal distention |
ORPHA:206484 |
Visceral Myopathy 1 |
|
Vomiting, Diarrhea, Aganglionic megacolon, Abdominal pain, Abdominal distention, Malnutrition, Co... |
OMIM:155310 |
Ovarian Fibroma |
|
Abdominal pain, Abdominal distention |
ORPHA:314473 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Optic disc coloboma, Secretory diarrhea, Abdominal distention, Choanal atresia |
OMIM:270420 |
Lead Poisoning |
|
Vomiting, Abdominal cramps, Abdominal pain, Abnormality of the autonomic nervous system, Abdomina... |
ORPHA:330015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Facial palsy |
OMIM:608840 |
Congenital Tufting Enteropathy |
|
Vomiting, Abdominal distention, Secretory diarrhea, Chronic diarrhea, Optic disc coloboma, Choana... |
ORPHA:92050 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Vomiting, Nausea, Abdominal distention |
ORPHA:90003 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Optic atrophy, Macrogyria, Hydroce... |
ORPHA:899 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares, Protuberant abdomen |
OMIM:614524 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Abnormality of neuronal migration, Depressed nasal ridge, Wide nasal ... |
ORPHA:2211 |
Congenital Hypothyroidism |
|
Depressed nasal ridge, Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Anos... |
ORPHA:442 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Abdominal pain, Abdominal distention, Nausea and vomiting |
ORPHA:83469 |
Niemann-Pick Disease, Type A |
|
Vomiting, Feeding difficulties in infancy, Constipation, Athetosis, Protuberant abdomen |
OMIM:257200 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Polymic... |
ORPHA:35107 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Dystonia, Intention tremor |
ORPHA:309263 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction ... |
ORPHA:309256 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Abdominal distention, Gastroparesis |
ORPHA:1876 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Type II lissenceph... |
ORPHA:370959 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Abdominal distention |
OMIM:619365 |
Joubert Syndrome |
|
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... |
ORPHA:475 |
Platyspondylic Dysplasia, Torrance Type |
|
Depressed nasal bridge, Abdominal distention |
ORPHA:85166 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Lateral ventricle dilatation, Short nose, Depressed nasal bridge, An... |
OMIM:614105 |
Neonatal Adrenoleukodystrophy |
|
Anteverted nares, Optic atrophy, Abnormality of neuronal migration, Wide nasal bridge |
ORPHA:44 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention |
OMIM:619362 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen |
OMIM:617102 |
Ovarian Fibrothecoma |
|
Abdominal pain, Abdominal distention |
ORPHA:314478 |
Alternating Hemiplegia Of Childhood |
|
Vomiting, Diarrhea, Abnormal autonomic nervous system physiology, Choreoathetosis, Abdominal dist... |
ORPHA:2131 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Short nose, Anteverted nares, Optic... |
OMIM:617201 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Short nose |
ORPHA:3307 |
Metachromatic Leukodystrophy, Adult Form |
|
Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Abdominal distention, Decrea... |
ORPHA:309271 |
Pancreatoblastoma |
|
Abdominal pain, Vomiting, Diarrhea, Abdominal distention |
ORPHA:677 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... |
ORPHA:2318 |
Peripheral Primitive Neuroectodermal Tumor |
|
Episodic abdominal pain, Nausea and vomiting, Torticollis, Abdominal distention, Anorexia |
ORPHA:370348 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Death in infancy |
ORPHA:2481 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Protuberant abdomen |
OMIM:613330 |
Vici Syndrome |
|
Gray matter heterotopia, Optic atrophy, Death in infancy, Depressed nasal tip, Agenesis of corpus... |
ORPHA:1493 |
Hereditary Fructose Intolerance |
|
Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Chronic hepatic failure, Nausea, Consti... |
ORPHA:469 |
Meckel Syndrome 14 |
|
Abdominal distention, Holoprosencephaly, Anteverted nares, Occipital encephalocele, Protuberant a... |
OMIM:619879 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Gray matter heterotopia, Anteverted nares |
OMIM:619694 |
Fraser Syndrome 2 |
|
Underdeveloped nasal alae, Abdominal distention |
OMIM:617666 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus |
ORPHA:2655 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Vomiting, Diarrhea, Abdominal distention |
ORPHA:391673 |
Thyroid Hypoplasia |
|
Constipation, Abdominal distention |
ORPHA:95720 |
Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Polyembryoma |
|
Abdominal pain, Abdominal distention |
ORPHA:180229 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Wide nasal bridge, Abdominal distention, Death in infancy |
OMIM:235255 |
Mirizzi Syndrome |
|
Vomiting, Abdominal colic, Abdominal pain, Abdominal distention, Anorexia, Nausea |
ORPHA:521219 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Protuberant abdomen |
OMIM:187600 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Abdominal distention |
ORPHA:71 |
Microvillus Inclusion Disease |
|
Diarrhea, Abdominal distention |
ORPHA:2290 |
Acute Intermittent Porphyria |
|
Diarrhea, Nausea and vomiting, Pseudobulbar paralysis, Abdominal pain, Abdominal distention, Trem... |
ORPHA:79276 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Abdominal distention |
ORPHA:2604 |
Schneckenbecken Dysplasia |
|
Short nose, Stillbirth, Protuberant abdomen |
OMIM:269250 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Short nose, Depressed nasal bridge, Holoprosencephaly, Antever... |
ORPHA:261236 |
Ovarian Hyperstimulation Syndrome |
|
Abdominal pain, Nausea, Abdominal distention, Nausea and vomiting |
ORPHA:64739 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Periventricular heterotopia, Aqueductal stenosis, Proboscis, Hydrocephal... |
OMIM:619895 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Hypoperistalsis, Abdominal distention, Nausea and vomiting |
ORPHA:2241 |
3C Syndrome |
|
Abnormality of neuronal migration, Optic atrophy, Wide nasal bridge, Death in infancy, Hydrocepha... |
ORPHA:7 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia |
OMIM:618974 |
Colonic Atresia |
|
Abdominal distention |
ORPHA:1198 |
Schimke Immuno-Osseous Dysplasia |
|
Depressed nasal bridge, Broad nasal tip, Abdominal distention |
ORPHA:1830 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Vomiting, Diarrhea, Abdominal distention |
ORPHA:93552 |
Wilson Disease |
|
Hepatic failure, Vomiting, Hyposmia, Limb dystonia, Hand tremor, Abdominal distention, Decreased ... |
OMIM:277900 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Wide nasal bridge, Depressed nasal bridge, Neonatal death, Polymicrogyria |
OMIM:614887 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Episodic abdominal pain, Diarrhea, Abdominal distention, Anorexia, Nausea |
ORPHA:100085 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Sepsis In Premature Infants |
|
Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdomina... |
ORPHA:90051 |
Gallbladder Neuroendocrine Tumor |
|
Episodic abdominal pain, Anorexia, Abdominal distention, Nausea |
ORPHA:100086 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Anteverted nares, Optic atrophy, Abnormality of neuronal migration, Wide nasal bridge |
ORPHA:2518 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Optic atrophy, Hydrocephalus, Short nose, Depressed nasal bridge, Co... |
OMIM:619833 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Vomiting, Diarrhea, Death in infancy, Acute hepatic failure, Protuberant abdomen |
OMIM:278000 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Depressed nasal bridge, Stillbirth, Protuberant abdomen |
OMIM:151210 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria |
ORPHA:255138 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Wide nasal bridge, Prominent nasal tip, Depressed nasal bridge, Antevert... |
OMIM:619312 |
Fibrochondrogenesis 1 |
|
Short nose, Depressed nasal bridge, Stillbirth, Anteverted nares, Protuberant abdomen |
OMIM:228520 |
Donohue Syndrome |
|
Abdominal distention |
OMIM:246200 |
Achondrogenesis, Type Ia |
|
Short nose, Hypoplastic nasal bridge, Depressed nasal bridge, Anteverted nares, Stillbirth, Protu... |
OMIM:200600 |
Al Amyloidosis |
|
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia,... |
ORPHA:85443 |
Achondrogenesis, Type Ii |
|
Stillbirth, Protuberant abdomen |
OMIM:200610 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Lissencephaly, Short nose, Depressed nasal bridge, Anteve... |
OMIM:617822 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Poor appetite |
OMIM:227810 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... |
ORPHA:157 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Vomiting, Diarrhea, Abdominal distention |
OMIM:212750 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis |
OMIM:215600 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Depressed nasal bridge, Protuberant abdomen |
ORPHA:457485 |
Diaphanospondylodysostosis |
|
Short nose, Depressed nasal bridge, Depressed nasal ridge, Protuberant abdomen |
OMIM:608022 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Vomiting, Diarrhea, Nausea and vomiting, Abdominal pain, Abdominal distention, M... |
ORPHA:275761 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Depressed nasal ridge, Spina bifid... |
ORPHA:2671 |
Letterer-Siwe Disease |
|
Abdominal distention |
OMIM:246400 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Vomiting, Diarrhea, Reye syndrome-like episodes, Abdominal distention, Acute hep... |
OMIM:256810 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen |
OMIM:184250 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria |
ORPHA:2065 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Short columella, Partial agenesis of the corpus callosum, Polymicrogyria |
OMIM:619775 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Encephalocele, Wide nasal bridge, Bifid nose, Periventricular nodular he... |
OMIM:603671 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Broad nasal tip, Abdominal distention |
ORPHA:1655 |
Smith-Lemli-Opitz Syndrome |
|
Gastroesophageal reflux, Vomiting, Poor suck, Wide nasal bridge, Death in infancy, Aganglionic me... |
OMIM:270400 |
Fanconi-Bickel Syndrome |
|
Hepatic failure, Abdominal distention |
ORPHA:2088 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Secretory diarrhea, Abdominal distention |
OMIM:214700 |
Atelosteogenesis, Type I |
|
Encephalocele, Short nose, Depressed nasal bridge, Stillbirth, Neonatal death, Protuberant abdomen |
OMIM:108720 |
Hurler Syndrome |
|
Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Prot... |
OMIM:607014 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Death in infancy, Nasal congestion, Bulbous nose, Agenesis of ... |
OMIM:608836 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus |
ORPHA:1860 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Tube feeding, Wide nasal bridge, Lateral ventricle dilatation, Depressed nasal bridge, Feeding di... |
OMIM:619479 |
Schimke Immunoosseous Dysplasia |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen |
OMIM:242900 |
Sialuria |
|
Wide nasal bridge, Protuberant abdomen |
OMIM:269921 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Depressed nasal ridge, Protuberant abdomen |
OMIM:616038 |
Man1B1-Cdg |
|
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Underdeveloped nasolab... |
ORPHA:397941 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Optic atrophy, Hydrocephalus, Bulbous nose, Agenesis of corpus callosum |
OMIM:618476 |
Vitamin D-Dependent Rickets, Type 2A |
|
Wide nasal bridge, Protuberant abdomen |
OMIM:277440 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Death in infancy, Dysphagia, Feeding difficulties, Protuberant abdomen |
OMIM:230900 |
Castleman Disease |
|
Abdominal pain, Intestinal obstruction, Abdominal distention, Nausea and vomiting |
ORPHA:160 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Anteverted nares, Occipital encephalocele, Opti... |
ORPHA:1454 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
OMIM:602557 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... |
ORPHA:228308 |
Hereditary Spherocytosis |
|
Abdominal pain, Abdominal distention |
ORPHA:822 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Hepatic failure, Abdominal distention, Gastrointestinal inflammation |
ORPHA:186 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Diarrhea, Abdominal distention, Colitis |
ORPHA:309031 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Coffin-Lowry Syndrome |
|
Wide nose, Abnormality of neuronal migration, Optic atrophy, Depressed nasal bridge, Death in ear... |
ORPHA:192 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Abdominal distention, Death in infancy |
OMIM:617156 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
ORPHA:93352 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
Holoprosencephaly |
|
Absent nares, Aplasia/Hypoplasia involving the nose, Spinal dysraphism, Encephalocele, Depressed ... |
ORPHA:2162 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge, Anteverted nares, Protuberant abdomen |
OMIM:258480 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Underdeveloped nasal alae, Depressed nasal bridge, Gray matter heterotopia, Anteverted nares |
OMIM:608624 |
Idiopathic Hypereosinophilic Syndrome |
|
Vomiting, Chronic diarrhea, Feeding difficulties in infancy, Abdominal pain, Abdominal distention... |
ORPHA:3260 |
Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618929 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Protuberant abdomen |
OMIM:264700 |
Thyroid Ectopia |
|
Constipation, Abdominal distention |
ORPHA:95712 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Bilateral choanal atresia/stenosis, Wide nasal bridge, Dysplastic corpus... |
ORPHA:314679 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615287 |
Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Hydrocephalus, Holoprosencephaly, Neonatal death, Protuberant abdomen |
OMIM:269860 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Convex nasal ridge, Periventricular heterotopia, Prominent nasal tip, Depressed nasal bridge, Ant... |
OMIM:618870 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Wide nasal bridge, Simplified gyral pattern, Periventricular nodular het... |
OMIM:601390 |
Hepatocellular Carcinoma |
|
Diarrhea, Poor appetite, Abdominal pain, Abdominal distention, Anorexia |
ORPHA:88673 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Wide nasal bridge, Simplified gyral pattern, Lissencephaly, Optic ne... |
ORPHA:468631 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Abdominal distention, Nausea and vomiting |
ORPHA:79403 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Depressed nasal bridge, Anteverted nares |
OMIM:618797 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Agenesis of... |
OMIM:605039 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Abnormality of neuronal migration, Optic atrophy, Death in infancy, S... |
ORPHA:991 |
Aicardi Syndrome |
|
Gray matter heterotopia, Optic atrophy, Lateral ventricle dilatation, Spina bifida, Partial agene... |
OMIM:304050 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Gray matter heterotopia |
ORPHA:531151 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Aplasia of the nasal bone, Colpocephaly, Short nose, Holoprosencephaly, ... |
OMIM:618820 |
Mucolipidosis Ii Alpha/Beta |
|
Recurrent bronchitis, Depressed nasal bridge, Myelopathy, Anteverted nares, Death in childhood, P... |
OMIM:252500 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen |
ORPHA:2347 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Bifid nose, Mi... |
OMIM:236680 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Periventricular heterotopia, Anteverted nares, Optic nerve hypoplasia |
ORPHA:261250 |
Mucopolysaccharidosis Type 3 |
|
Intermittent diarrhea, Optic atrophy, Hydrocephalus, Adenoiditis, Constipation, Dysphagia, Thick ... |
ORPHA:581 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Wide nasal bridge, Agyria, Lissencephaly, Short nose, Anteverted nares, ... |
OMIM:247200 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Depressed nasal bridge |
OMIM:617563 |
Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Diarrhea, Aganglionic megacolon, Abdominal distention, Constipation |
ORPHA:653 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Vomiting, Abdominal distention |
ORPHA:158684 |
X-Linked Acrogigantism |
|
Abdominal distention |
ORPHA:300373 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Greenberg Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Stillbirth, Neonatal death, Protuberant abdomen |
OMIM:215140 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Periventri... |
OMIM:618733 |
Currarino Syndrome |
|
Abdominal distention, Chronic constipation, Gastrointestinal obstruction |
OMIM:176450 |
Blomstrand Lethal Chondrodysplasia |
|
Short nose, Depressed nasal bridge, Anteverted nares, Protuberant abdomen |
ORPHA:50945 |
6Q Terminal Deletion Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr... |
ORPHA:75857 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Arboleda-Tham Syndrome |
|
Gastroesophageal reflux, Optic atrophy, Dystonia, Broad nasal tip, Bifid nasal tip, Dysphagia, Lo... |
OMIM:616268 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Constipation, Abdominal distention |
OMIM:218700 |
Atelosteogenesis Type Ii |
|
Wide nasal base, Protuberant abdomen |
ORPHA:56304 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Prominent nose, Hydrocephalus, Partial agenesis of the corpus callosum, ... |
OMIM:305450 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Holoprosencephaly, Aplasia of the nose |
ORPHA:3186 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Protuberant abdomen |
ORPHA:289157 |
Dyggve-Melchior-Clausen Disease |
|
Recurrent upper respiratory tract infections, Protuberant abdomen |
ORPHA:239 |
Orofaciodigital Syndrome I |
|
Underdeveloped nasal alae, Gray matter heterotopia, Myelomeningocele, Wide nasal bridge, Abnormal... |
OMIM:311200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Prominent nose, Colpocephaly, Abnormal cortical gyration, Lateral ventri... |
OMIM:210710 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Gray matter heterotopia, Frontal polymicrogyria, Pachygyria |
OMIM:620024 |
Kasabach-Merritt Syndrome |
|
Abdominal pain, Abdominal distention |
ORPHA:2330 |
Pyknoachondrogenesis |
|
Depressed nasal ridge, Abdominal distention |
ORPHA:3003 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Abnormality of neuronal migration |
ORPHA:163681 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention |
OMIM:271520 |
Short Rib-Polydactyly Syndrome |
|
Depressed nasal bridge, Protuberant abdomen |
ORPHA:1505 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Abdominal distention |
ORPHA:436252 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Wide nasal bridge, Periventricular nodular heterotopia, Depressed nasal ... |
OMIM:615546 |
Mowat-Wilson Syndrome |
|
Vomiting, Wide nasal bridge, Aganglionic megacolon, Prominent nasal tip, Agenesis of corpus callo... |
OMIM:235730 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Anteverted nares, Optic disc pallor, Death in childhood, Polymicrogyria |
OMIM:214100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention |
OMIM:619351 |
Liver Disease, Severe Congenital |
|
Hepatic failure, Vomiting, Diarrhea, Dependency on parenteral nutrition, Narrow nasal ridge, Abdo... |
OMIM:619991 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Depressed nasal bridge |
ORPHA:26791 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Gastroesophageal reflux, Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Abdomi... |
OMIM:619534 |
Mucolipidosis Type Ii |
|
Depressed nasal bridge, Gastrostomy tube feeding in infancy, Protuberant abdomen |
ORPHA:576 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Spinal dysraphism, Gastrostomy tube feeding in infancy, Wide nasal bridge, Miscarriage... |
ORPHA:96334 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Orofaciodigital Syndrome Type 6 |
|
Prominent nasal bridge, Broad nasal tip, Abnormality of neuronal migration |
ORPHA:2754 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Protuberant abdomen |
OMIM:608328 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enterocolitis, Diarrhea, Ulcerative colitis, Epistaxis, Inflammation of the large intestine, Prot... |
ORPHA:79259 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia, Bulbous nose, Pear-shaped nose, Prominent nasal bridge |
OMIM:610443 |
Leprechaunism |
|
Wide nose, Abdominal distention |
ORPHA:508 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Protuberant abdomen |
OMIM:232220 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Cranioectodermal Dysplasia 1 |
|
Anteverted nares, Hepatic failure, Wide nasal bridge, Protuberant abdomen |
OMIM:218330 |
Vici Syndrome |
|
Wide nose, Depressed nasal bridge, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:242840 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Rhinitis, Diarrhea, Abdominal distention, Anorexia, Gastrointestinal inflammation, Oral-pharyngea... |
ORPHA:95455 |
Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... |
ORPHA:98889 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Prominent nose, Chronic constipation, Recurrent sinusitis, Recurrent upper respiratory tract infe... |
OMIM:256040 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Depressed nasal bridge, Protuberant abdomen |
OMIM:618019 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Viss Syndrome |
|
Hypereosinophilia, Gastroesophageal reflux, Chronic diarrhea, Chronic constipation, Abdominal dis... |
OMIM:619472 |
Nijmegen Breakage Syndrome |
|
Convex nasal ridge, Prominent nose, Abnormality of neuronal migration, Depressed nasal bridge, Pr... |
ORPHA:647 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Depressed nasal bridge, Agenesis of corpus callosum, Abdominal distention |
ORPHA:93271 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Underdeveloped nasal alae, Abnormal autonomic nervous system physiology, Gray matter heterotopia,... |
ORPHA:453499 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Underdeveloped nasal alae, Gray matter heterotopia, Wide nasal bridge, Optic nerve hypoplasia, Br... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Underdeveloped nasal alae, Gray matter heterotopia, Wide nasal bridge, Optic nerve hypoplasia, Br... |
ORPHA:352665 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Convex nasal ridge, Periventricular heterotopia, Death in infancy, Hydro... |
OMIM:612289 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Partial agenesis of the... |
OMIM:615948 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Prominent nasal bridge, Abnormality of neuronal migration |
ORPHA:464311 |
Arima Syndrome |
|
Occipital meningocele, Gray matter heterotopia, Optic atrophy |
OMIM:243910 |
Genitopatellar Syndrome |
|
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Pachygyria, Prominent ... |
OMIM:606170 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Eisenmenger Syndrome |
|
Abdominal distention |
ORPHA:97214 |
Orofaciodigital Syndrome Type 14 |
|
Bulbous nose, Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
Proteus Syndrome |
|
Gray matter heterotopia, Depressed nasal bridge, Thick nasal alae, Anteverted nares |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Convex nasal ridge, Periventricular heterotopia, Wide nasal bridge, Lateral ventricle dilatation,... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Convex nasal ridge, Periventricular heterotopia, Wide nasal bridge, Optic atrophy, Lateral ventri... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Wide nasal bridge, Aganglionic megacolon, Prominent nasal tip, Broad... |
ORPHA:2152 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Kallmann Syndrome |
|
Tremor, Anosmia, Hyposmia |
ORPHA:478 |