Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... |
OMIM:600348 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ... |
OMIM:300067 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Partial agene... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Trehalase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:103909 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... |
OMIM:611603 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Optic atrophy, Type II lissencephaly, Occipital... |
ORPHA:352682 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:313906 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
Colonic Atresia |
|
Abdominal distention |
OMIM:303650 |
Intestinal Dysmotility Syndrome |
|
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... |
OMIM:620045 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea |
ORPHA:103907 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... |
ORPHA:2924 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Primary Peritoneal Carcinoma |
|
Abdominal distention, Nausea and vomiting, Constipation, Abdominal pain |
ORPHA:168829 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abdominal distention, Death in infancy, Feeding difficulties, Hepatic failure |
OMIM:618528 |
Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Subcortical band he... |
OMIM:615191 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseudo-obstruction, ... |
OMIM:613662 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Diarrhea 12, With Microvillus Atrophy |
|
Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition |
OMIM:619445 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Short nose, Abdominal distention, Depressed nasal ridge |
OMIM:613885 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Par... |
ORPHA:101030 |
Cap Polyposis |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia |
ORPHA:160148 |
Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
Atresia Of Small Intestine |
|
Abdominal distention, Vomiting, Feeding difficulties |
ORPHA:1201 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Lissencephaly 6 With Microcephaly |
|
Bulbous nose, Periventricular heterotopia, Polymicrogyria, Partial agenesis of the corpus callosu... |
OMIM:616212 |
Puerto Rican Infant Hypotonia Syndrome |
|
Constipation, Chronic constipation, Abdominal distention, Prominent nasal bridge |
OMIM:600096 |
Congenital Hydrocephalus |
|
Hydrocephalus, Bulbous nose, Abnormal cortical gyration, Optic atrophy, Lissencephaly, Colpocephaly |
ORPHA:2185 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Bulbous nose, Gray matter heterotopia, Communicating hydrocephalus, Optic atrophy, Lissencephaly,... |
OMIM:615219 |
Acrocephalopolydactyly |
|
Short nose, Protuberant abdomen, Depressed nasal ridge |
ORPHA:221054 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Death in infancy, Protuberant abdomen |
OMIM:277300 |
Thyroid Hemiagenesis |
|
Abdominal distention, Constipation |
ORPHA:95719 |
Inflammatory Pseudotumor Of The Liver |
|
Nausea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:90003 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
Qazi-Markouizos Syndrome |
|
Torticollis, Abdominal distention, Chronic constipation, Prominent nasal bridge |
ORPHA:3010 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Projectile vomiting, Abnormal peristalsis, Vomiting, Decreased intestinal t... |
OMIM:615237 |
Glucose/Galactose Malabsorption |
|
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea |
OMIM:606824 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Neonatal death, Polymicrogyria |
OMIM:619602 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth |
OMIM:600972 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Decreased sensory nerve conduction velocity, Abdominal pain, Abdominal d... |
ORPHA:298 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent infection of the gastrointestinal tract, Abdominal distention, Abdominal pain, Allodyni... |
ORPHA:51890 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:2512 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lateral ventricle dilatation... |
ORPHA:300573 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Wide nose, Abnormality of neuronal migration, Microlissencephaly, Agenes... |
ORPHA:89844 |
Folinic Acid-Responsive Seizures |
|
Optic atrophy, Abdominal distention, Dystonia |
ORPHA:79097 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Abdominal distention, Constipation, Depressed nasal bridge, Feeding difficulties in infancy, Prot... |
ORPHA:226313 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Gastroparesis, Abdominal distention, Malnutrition, Abdominal pain |
OMIM:277320 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele, Abnormal optic disc morphology |
ORPHA:65 |
Achondrogenesis Type 1A |
|
Anteverted nares, Short nose, Abdominal distention |
ORPHA:93299 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in childhood, Dysplastic corpus callosum, Abdominal distention, Death in infancy |
OMIM:619423 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration, Short nose, Choanal atresia, Anteverted nares |
ORPHA:1895 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Broad nasal tip, Periventricular nodular heterotopia, Bifid nose, Bifid ... |
OMIM:603671 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Gray matter heterotopia, Anencephaly, Optic nerve dysplasia, Type II lissencephaly... |
OMIM:615287 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft ala nasi, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Neonatal death, Death in infancy |
OMIM:608104 |
Hemimegalencephaly |
|
Gray matter heterotopia, Polymicrogyria, Optic atrophy, Abnormal neuron morphology, Pachygyria |
ORPHA:99802 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Permanent Congenital Hypothyroidism |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:226292 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Abdominal distention, Abdominal pain |
ORPHA:168811 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Abdominal distention, Hematochezia |
ORPHA:103910 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure |
ORPHA:75233 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Agenesis of corpus callos... |
OMIM:207950 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Episodic vomiting, Nausea |
ORPHA:100924 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormal nasal bridge morphology, Abnormality of neuronal migration |
OMIM:614887 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds |
ORPHA:35710 |
Secondary Short Bowel Syndrome |
|
Constipation, Enterocolitis, Abdominal distention, Small intestinal dysmotility, Diarrhea, Vomiti... |
ORPHA:95427 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Abdominal distention, Vomiting, Feeding difficulties in infancy |
OMIM:300048 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Abnormality of neuronal migration, Ence... |
ORPHA:93274 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Liver Failure, Infantile, Transient |
|
Abdominal distention, Acute hepatic failure, Vomiting, Feeding difficulties in infancy, Death in ... |
OMIM:613070 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Short nose, Protuberant abdomen |
OMIM:614524 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Gray matter heterotopia, Pachygyria, Optic nerve hypoplasia, Polymicrogyria, Parti... |
OMIM:614643 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Visceral Myopathy 1 |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Vomiting, Malnutrition, Dysphagia, ... |
OMIM:155310 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Abdominal distention, Choanal atresia, Optic disc coloboma |
OMIM:270420 |
Ovarian Fibroma |
|
Abdominal distention, Abdominal pain |
ORPHA:314473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Facial palsy, Pachygyria |
OMIM:608840 |
Achondrogenesis, Type Ii |
|
Abdominal distention, Stillbirth |
OMIM:200610 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Macrogyria, Polymicrogyria, Abnormal cortical gyration, Optic atrophy, Lissencepha... |
ORPHA:899 |
Lead Poisoning |
|
Abdominal cramps, Miscarriage, Constipation, Abdominal distention, Abdominal pain, Anorexia, Abno... |
ORPHA:330015 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Vomiting, Optic disc coloboma, Choanal atresia, Chronic diarrhea, Secretory... |
ORPHA:92050 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Depressed nasal ridge, Encephalocele, Pachygyria, Polymicrogyria, Abnormal cortical gyration, Lis... |
ORPHA:2211 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Nausea and vomiting, Abdominal distention, Abdominal pain |
ORPHA:83469 |
Desmosterolosis |
|
Hydrocephalus, Macrogyria, Depressed nasal bridge, Polymicrogyria, Abnormal cortical gyration, Ab... |
ORPHA:35107 |
Niemann-Pick Disease, Type A |
|
Constipation, Vomiting, Athetosis, Feeding difficulties in infancy, Protuberant abdomen |
OMIM:257200 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Protuberant abdomen, Wide nasal bridge |
OMIM:617102 |
Gaucher Disease, Type Ii |
|
Dysphagia, Protuberant abdomen, Feeding difficulties |
OMIM:230900 |
Congenital Hypothyroidism |
|
Constipation, Abdominal distention, Depressed nasal ridge, Optic atrophy, Feeding difficulties in... |
ORPHA:442 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Optic atrophy, Dystonia |
ORPHA:309263 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abdominal distention, Decreased nerve conduction velocity, Optic atrophy, Feeding difficulties in... |
ORPHA:309256 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention |
ORPHA:1876 |
Joubert Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Anteverted nares, Encephalocele... |
ORPHA:475 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Abdominal distention |
OMIM:619365 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Gray matter heterotopia, Optic nerve hypoplasia, Polymicrogyria, Optic atrophy, Ty... |
ORPHA:370959 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
Platyspondylic Dysplasia, Torrance Type |
|
Depressed nasal bridge, Abdominal distention |
ORPHA:85166 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge |
ORPHA:44 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Neonatal death |
OMIM:619362 |
Alternating Hemiplegia Of Childhood |
|
Constipation, Abdominal distention, Abnormal autonomic nervous system physiology, Anorexia, Diarr... |
ORPHA:2131 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Short nose |
ORPHA:3307 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
OMIM:602557 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Abnormality of neuronal migration, Anteverted nares, Encephalocele, Prominent nasa... |
ORPHA:2318 |
Ovarian Fibrothecoma |
|
Abdominal distention, Abdominal pain |
ORPHA:314478 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Decreased nerve conduction velocity, Orthostatic hypotension due to autonom... |
ORPHA:309271 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia |
ORPHA:2655 |
Pancreatoblastoma |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:677 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Anteverted nares, Wide nose, Gray matter heterotopia |
OMIM:619694 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hydrocephalus, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618476 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Depressed nasal bridge, Abnormality of neuronal migration, Short nose, Antever... |
ORPHA:261236 |
Hereditary Fructose Intolerance |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Fraser Syndrome 2 |
|
Abdominal distention, Underdeveloped nasal alae |
OMIM:617666 |
Meckel Syndrome 14 |
|
Abdominal distention, Holoprosencephaly, Occipital encephalocele, Anteverted nares, Protuberant a... |
OMIM:619879 |
Chylomicron Retention Disease |
|
Diarrhea, Abdominal distention, Vomiting |
ORPHA:71 |
Nephrotic Syndrome, Type 1 |
|
Abdominal distention, Gastroesophageal reflux |
OMIM:256300 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Abdominal distention, Death in infancy, Wide nasal bridge, Hepatic failure |
OMIM:235255 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Thyroid Hypoplasia |
|
Abdominal distention, Constipation |
ORPHA:95720 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Diarrhea, Abdominal distention, Vomiting |
ORPHA:391673 |
Vici Syndrome |
|
Gray matter heterotopia, Depressed nasal tip, Optic atrophy, Death in infancy, Agenesis of corpus... |
ORPHA:1493 |
Acute Intermittent Porphyria |
|
Ileus, Constipation, Abdominal distention, Abdominal pain, Pseudobulbar paralysis, Diarrhea, Trem... |
ORPHA:79276 |
Mirizzi Syndrome |
|
Abdominal distention, Abdominal pain, Anorexia, Vomiting, Nausea, Abdominal colic |
ORPHA:521219 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Death in infancy, Meningocele |
ORPHA:2481 |
Familial Visceral Myopathy |
|
Anteverted nares, Abdominal distention, Prominent nasal bridge, Aganglionic megacolon |
ORPHA:2604 |
3C Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Optic atrophy, Short nose, Death in infancy, Abnormality o... |
ORPHA:7 |
Microvillus Inclusion Disease |
|
Diarrhea, Abdominal distention |
ORPHA:2290 |
Schneckenbecken Dysplasia |
|
Short nose, Stillbirth, Protuberant abdomen |
OMIM:269250 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea and vomiting |
ORPHA:370348 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Periventricular heterotopia, Prominent nasal bridge |
OMIM:618974 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Nausea, Abdominal distention, Abdominal pain |
ORPHA:64739 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Hypoperistalsis, Abdominal distention, Death in infancy |
ORPHA:2241 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Protuberant abdomen, Neonatal death |
OMIM:187600 |
Holoprosencephaly 14 |
|
Hydrocephalus, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, Gray m... |
OMIM:619895 |
Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Depressed nasal bridge, Short nose, Lissencephaly, Anteve... |
OMIM:617822 |
Colonic Atresia |
|
Abdominal distention |
ORPHA:1198 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Abdominal distention, Episodic abdominal pain, Anorexia, Diarrhea, Nausea |
ORPHA:100085 |
Pediatric Systemic Lupus Erythematosus |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:93552 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge |
ORPHA:2518 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Gray matter heterotopia |
OMIM:219730 |
Schimke Immuno-Osseous Dysplasia |
|
Broad nasal tip, Depressed nasal bridge, Abdominal distention |
ORPHA:1830 |
Wilson Disease |
|
Abdominal distention, Decreased nerve conduction velocity, Hand tremor, Hepatic failure, Hyposmia... |
OMIM:277900 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Nausea, Episodic abdominal pain |
ORPHA:100086 |
Lysosomal Acid Lipase Deficiency |
|
Acute hepatic failure, Hepatic failure, Diarrhea, Vomiting, Death in infancy, Protuberant abdomen |
OMIM:278000 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria |
ORPHA:255138 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Periventricular heterotopia, Depressed nasal bridge, Optic atrophy, Short nose, Co... |
OMIM:619833 |
Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Enterocolitis, Diarrhea, Vomiting, Gastrointestin... |
ORPHA:90051 |
Achondrogenesis, Type Ia |
|
Depressed nasal bridge, Hypoplastic nasal bridge, Protuberant abdomen, Short nose, Anteverted nar... |
OMIM:200600 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Protuberant abdomen, Short nose, Anteverted nares, Stillbirth |
OMIM:228520 |
Radio-Tartaglia Syndrome |
|
Bulbous nose, Prominent nasal tip, Gray matter heterotopia, Depressed nasal bridge, Anteverted na... |
OMIM:619312 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Abdominal distention, Abnormal autonomic nervous system physiolog... |
ORPHA:85443 |
Donohue Syndrome |
|
Abdominal distention |
OMIM:246200 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... |
ORPHA:157 |
Fanconi-Bickel Syndrome |
|
Poor appetite, Abdominal distention |
OMIM:227810 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Diarrhea, Abdominal distention |
OMIM:214700 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Abdominal distention |
OMIM:215600 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Short nose, Protuberant abdomen, Depressed nasal ridge |
OMIM:608022 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen |
OMIM:184250 |
Sialuria |
|
Protuberant abdomen, Wide nasal bridge |
OMIM:269921 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Depressed nasal bridge, Protuberant abdomen |
ORPHA:457485 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis |
ORPHA:2065 |
Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal pain |
OMIM:212750 |
Letterer-Siwe Disease |
|
Abdominal distention |
OMIM:246400 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Abdominal distention, Feeding difficulties, Hepatic failure, Abdominal ... |
ORPHA:275761 |
Neu-Laxova Syndrome |
|
Depressed nasal ridge, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality of ... |
ORPHA:2671 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Gastroesophageal reflux, Abdominal distention, Constipation, Holoprosencephaly, Po... |
OMIM:270400 |
Atelosteogenesis, Type I |
|
Depressed nasal bridge, Protuberant abdomen, Neonatal death, Short nose, Encephalocele, Stillbirth |
OMIM:108720 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Bulbous nose, Polymicrogyria, Nasal congestion, Death in infancy, Abnormality of neuronal migrati... |
OMIM:608836 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Short columella, Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Hurler Syndrome |
|
Hydrocephalus, Broad nasal tip, Depressed nasal bridge, Anteverted nares, Protuberant abdomen, Wi... |
OMIM:607014 |
Schimke Immunoosseous Dysplasia |
|
Depressed nasal bridge, Bulbous nose, Protuberant abdomen, Wide nasal bridge |
OMIM:242900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Broad nasal tip, Abdominal distention, Hepatic failure |
ORPHA:1655 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Protuberant abdomen |
OMIM:151210 |
Man1B1-Cdg |
|
Periventricular heterotopia, Underdeveloped nasolabial fold, Wide nose, Prominent nose, Wide nasa... |
ORPHA:397941 |
Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia |
ORPHA:1860 |
Vitamin D-Dependent Rickets, Type 2A |
|
Protuberant abdomen, Wide nasal bridge |
OMIM:277440 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... |
ORPHA:228308 |
Joubert Syndrome With Hepatic Defect |
|
Hydrocephalus, Abnormality of neuronal migration, Optic disc coloboma, Prominent nasal bridge, An... |
ORPHA:1454 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Abdominal distention, Gastrointestinal inflammation, Hepatic failure |
ORPHA:186 |
Hereditary Spherocytosis |
|
Abdominal distention, Abdominal pain |
ORPHA:822 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Protuberant abdomen, Depressed nasal ridge |
OMIM:616038 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Abdominal distention, Colitis, Abdominal pain |
ORPHA:309031 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Gray matter heterotopia, Underdeveloped nasal alae |
OMIM:608624 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
Castleman Disease |
|
Intestinal obstruction, Nausea and vomiting, Abdominal distention, Abdominal pain |
ORPHA:160 |
Coffin-Lowry Syndrome |
|
Depressed nasal bridge, Abnormality of neuronal migration, Death in early adulthood, Optic atroph... |
ORPHA:192 |
Holoprosencephaly |
|
Hydrocephalus, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Holoprosencephaly, H... |
ORPHA:2162 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
ORPHA:93352 |
Idiopathic Hypereosinophilic Syndrome |
|
Colitis, Abdominal distention, Abdominal pain, Eosinophilia, Vomiting, Feeding difficulties in in... |
ORPHA:3260 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618929 |
Opsismodysplasia |
|
Anteverted nares, Depressed nasal bridge, Short nose, Protuberant abdomen |
OMIM:258480 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Protuberant abdomen |
OMIM:264700 |
Thyroid Ectopia |
|
Abdominal distention, Constipation |
ORPHA:95712 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Bilateral choanal atresia/stenosis, Agenesis... |
ORPHA:314679 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... |
OMIM:601390 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Optic nerve hypoplasia, Polymicrogyria, Optic disc pallor, Lissencep... |
ORPHA:468631 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Tube feeding, Feeding difficulties, Depressed nasal bridge, Protuberant abdomen, Wide nasal bridge |
OMIM:619479 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Anteverted nares, Depressed nasal bridge, Gray matter heterotopia |
OMIM:618797 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Bifid nose, Abnormal... |
OMIM:236680 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Depressed nasal bridge, Anteverted nares, Agenesis of corpus callosum, W... |
OMIM:605039 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Neonatal death, Protuberant abdomen |
OMIM:269860 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Pagod Syndrome |
|
Optic atrophy, Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, S... |
ORPHA:991 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen |
ORPHA:2347 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia, Prominent nasal tip, Convex nasal ridge, Depressed nasal bridge, Ant... |
OMIM:618870 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Periventricular heterotopia, Colpocephaly |
ORPHA:261250 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Abdominal distention |
ORPHA:79403 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Aplasia o... |
OMIM:618820 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Agyria, Short nose, Lissencephaly, Anteverted nares, Pachygyria, Wide na... |
OMIM:247200 |
Mucolipidosis Ii Alpha/Beta |
|
Depressed nasal bridge, Death in childhood, Myelopathy, Recurrent bronchitis, Anteverted nares, P... |
OMIM:252500 |
Orofaciodigital Syndrome Xvi |
|
Depressed nasal bridge, Gray matter heterotopia |
OMIM:617563 |
Multiple Endocrine Neoplasia Type 2 |
|
Abdominal distention, Constipation, Diarrhea, Ganglioneuromatosis, Aganglionic megacolon |
ORPHA:653 |
Hepatocellular Carcinoma |
|
Abdominal distention, Abdominal pain, Anorexia, Diarrhea, Poor appetite |
ORPHA:88673 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Constipation, Optic atrophy, Intermittent diarrhea, Thick nasal alae, Dysphagia, A... |
ORPHA:581 |
Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Partial agenesis of the corpus callosum, Choanal atresia,... |
OMIM:305450 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Periventricular heterotopia, Decreased nerve co... |
OMIM:618733 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Wide nasal ridge |
ORPHA:531151 |
Aicardi Syndrome |
|
Gray matter heterotopia, Optic disc coloboma, Polymicrogyria, Partial agenesis of the corpus call... |
OMIM:304050 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal mig... |
ORPHA:75857 |
X-Linked Acrogigantism |
|
Abdominal distention |
ORPHA:300373 |
Dyggve-Melchior-Clausen Disease |
|
Recurrent upper respiratory tract infections, Protuberant abdomen |
ORPHA:239 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting |
ORPHA:158684 |
Greenberg Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Protuberant abdomen, Neonatal death, Stillbirth |
OMIM:215140 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Constipation |
OMIM:218700 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Aplasia of the nose, Holoprosencephaly |
ORPHA:3186 |
Blomstrand Lethal Chondrodysplasia |
|
Anteverted nares, Depressed nasal bridge, Short nose, Protuberant abdomen |
ORPHA:50945 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Underdevelo... |
OMIM:311200 |
Currarino Syndrome |
|
Gastrointestinal obstruction, Chronic constipation, Abdominal distention |
OMIM:176450 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Abnormality of neuronal migration |
ORPHA:163681 |
Van Maldergem Syndrome 2 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Wide nasal bridge, Subcortical band... |
OMIM:615546 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia, Neonatal death |
OMIM:620024 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Protuberant abdomen |
ORPHA:289157 |
Kniest-Like Dysplasia, Lethal |
|
Protuberant abdomen |
OMIM:245190 |
Arboleda-Tham Syndrome |
|
Gastroesophageal reflux, Low hanging columella, Feeding difficulties, Broad nasal tip, Protuberan... |
OMIM:616268 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Atelosteogenesis Type Ii |
|
Protuberant abdomen, Wide nasal base |
ORPHA:56304 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention |
OMIM:271520 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Death in childhood, Polymicrogyria, Optic disc pallor, Anteverted nares |
OMIM:214100 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Abdominal distention |
ORPHA:436252 |
Short Rib-Polydactyly Syndrome |
|
Depressed nasal bridge, Protuberant abdomen |
ORPHA:1505 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention |
OMIM:619351 |
Mowat-Wilson Syndrome |
|
Prominent nasal tip, Constipation, Abdominal distention, Low hanging columella, Agenesis of corpu... |
OMIM:235730 |
Pyknoachondrogenesis |
|
Abdominal distention, Depressed nasal ridge |
ORPHA:3003 |
Liver Disease, Severe Congenital |
|
Abdominal distention, Feeding difficulties, Hepatic failure, Depressed nasal bridge, Diarrhea, Vo... |
OMIM:619991 |
Kasabach-Merritt Syndrome |
|
Abdominal distention, Abdominal pain |
ORPHA:2330 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Gray matter heterotopia |
ORPHA:26791 |
Mucolipidosis Type Ii |
|
Gastrostomy tube feeding in infancy, Depressed nasal bridge, Protuberant abdomen |
ORPHA:576 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Feeding difficulties, Depressed nasal bridge, Gastrostomy tube feeding in infancy, S... |
ORPHA:96334 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:242840 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Broad nasal tip, Prominent nasal bridge |
ORPHA:2754 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Protuberant abdomen |
OMIM:608328 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enterocolitis, Diarrhea, Protuberant abdomen, Inflammation of the large intestine, Ulcerative col... |
ORPHA:79259 |
Cranioectodermal Dysplasia 1 |
|
Anteverted nares, Protuberant abdomen, Wide nasal bridge, Hepatic failure |
OMIM:218330 |
Leprechaunism |
|
Wide nose, Abdominal distention |
ORPHA:508 |
Bilateral Perisylvian Polymicrogyria |
|
Facial diplegia, Bilateral perisylvian polymicrogyria, Choanal atresia, Abnormality of neuronal m... |
ORPHA:98889 |
Glycogen Storage Disease Ib |
|
Protuberant abdomen, Inflammation of the large intestine |
OMIM:232220 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Gastroesophageal reflux, Aqueductal stenosis, Abdominal distention, Depressed nasa... |
OMIM:619534 |
Koolen-De Vries Syndrome |
|
Bulbous nose, Gray matter heterotopia, Prominent nasal bridge, Pear-shaped nose |
OMIM:610443 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Recurrent upper respiratory tract infections, Death in adolescence, Recurrent sinusitis, Prominen... |
OMIM:256040 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Prominent nose, Pachygyria, Stillbirth, Agenesis of corpus callosum |
OMIM:210710 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abdominal distention, Anorexia, Diarrhea, Rhinitis, Gastrointestinal inflammation, Oral-pharyngea... |
ORPHA:95455 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Viss Syndrome |
|
Gastroesophageal reflux, Abdominal distention, Feeding difficulties, Depressed nasal bridge, Hype... |
OMIM:619472 |
Nijmegen Breakage Syndrome |
|
Convex nasal ridge, Depressed nasal bridge, Prominent nose, Abnormality of neuronal migration, Pr... |
ORPHA:647 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Depressed nasal bridge, Protuberant abdomen |
OMIM:618019 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Depressed nasal bridge, Wide nose, Abdominal distention, Agenesis of corpus callosum |
ORPHA:93271 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Broad nasal tip, Optic nerve hypoplasia, Underdeveloped nasal alae, Agen... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Broad nasal tip, Optic nerve hypoplasia, Underdeveloped nasal alae, Agen... |
ORPHA:352665 |
Fontaine Progeroid Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Convex nasal ridge, Periventricular heterotopia, Depresse... |
OMIM:612289 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology, Gray matter heterotopia, Underdeveloped nasal alae,... |
ORPHA:453499 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Optic disc pallor, Prominent nasal bridge |
ORPHA:464311 |
Arima Syndrome |
|
Occipital meningocele, Gray matter heterotopia |
OMIM:243910 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Holoprosencephaly, Polymicrogyria, Optic disc coloboma, Simplified g... |
OMIM:615948 |
Periventricular Nodular Heterotopia 9 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria |
OMIM:618918 |
Genitopatellar Syndrome |
|
Periventricular heterotopia, Wide nose, Prominent nose, Prominent nasal bridge, Colpocephaly, Age... |
OMIM:606170 |
Eisenmenger Syndrome |
|
Abdominal distention |
ORPHA:97214 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Bulbous nose, Periventricular heterotopia |
ORPHA:434179 |
Proteus Syndrome |
|
Anteverted nares, Depressed nasal bridge, Gray matter heterotopia, Thick nasal alae |
ORPHA:744 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Convex nasal ridge, Low hanging columella, Depressed nasal tip, Agen... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, Convex nasal ridge, Low hanging columella, Depressed nasal tip, Agen... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Prominent nasal tip, Low hanging columella, Depressed nasal tip, Age... |
ORPHA:2152 |
Kallmann Syndrome |
|
Tremor, Anosmia, Hyposmia |
ORPHA:478 |