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 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
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 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Dehydration, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas... |
ORPHA:3032 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Cystinosis |
|
Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Malabsorption, Dehydration,... |
ORPHA:213 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Edema, Renal cyst, Steatorrhea, Death in childhood, Proximal tubul... |
OMIM:602579 |
Cach Syndrome |
|
Decreased fetal movement, Flexion contracture, Renal hypoplasia, Dysmetria, Hepatosplenomegaly, G... |
ORPHA:135 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Premature birth, Depressed nasal bridge... |
OMIM:614602 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Dehydration, Weight loss, Leukopenia, Failure to thriv... |
ORPHA:33355 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Hydrops fetalis, Dehydration, Reticulocytopenia,... |
OMIM:557000 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... |
ORPHA:84081 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, High palate, Attention deficit hyperactivity disorder, Compulsive behaviors, Sh... |
ORPHA:217340 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Dehydration, Dysphagia, Intrauterine... |
OMIM:618958 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia, Enterocolitis, Fail... |
OMIM:616050 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Severe short stature, Bifid nasal tip, Depressed nasal ridge,... |
OMIM:616854 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Thrombocytopenia, Dehydration, Choreoa... |
ORPHA:79312 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Choanal ... |
ORPHA:92050 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Attention deficit hyperactivity d... |
ORPHA:210548 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Wide nose, Short stature, Intestinal malrotation, Prominent nasal bridge... |
ORPHA:94063 |
Chronic Hiccup |
|
Abnormal eating behavior, Dehydration, Depression, Weight loss, Abnormality of the diaphragm |
ORPHA:396 |
Hadziselimovic Syndrome |
|
Short stature, Anteverted nares, Prominent nasal bridge, Renal hypoplasia, High palate, Failure t... |
OMIM:612946 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, ... |
ORPHA:85284 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge, Dysphagia, Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Edema, Increased stool alpha1-antitrypsin concentration, Perica... |
ORPHA:90362 |
Emanuel Syndrome |
|
Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Joint contracture, Micrope... |
OMIM:609029 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Micro... |
OMIM:619377 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overhanging nasal tip, Unilateral renal agenesis, High, narrow palate, Increased nuchal transluce... |
OMIM:618494 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Dehydration, Macroglossia, Abnormality of t... |
ORPHA:99886 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Bifid uvula, Hepatomega... |
OMIM:222470 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Depressed n... |
OMIM:264470 |
Verheij Syndrome |
|
Branchial cyst, Short stature, Small for gestational age, Renal agenesis, Anteverted nares, Broad... |
OMIM:615583 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Edema, Flexion contracture, Renal cyst, Dysmetria, Abnormality of the amniotic f... |
OMIM:212065 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Unilateral renal agenesis, Depressed nasal bridge, Chronic kidney dise... |
OMIM:617661 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... |
ORPHA:699 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Hyperactivity, Short stature, Depressed nasal bridge, Miscarriage, Aggressive behav... |
OMIM:619695 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni... |
OMIM:617784 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Polyhydramnios, Placental a... |
OMIM:603467 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,... |
OMIM:304790 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorpti... |
ORPHA:398063 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Broad nasal tip, Obesity, Enuresis, Self-injur... |
OMIM:613670 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypo... |
ORPHA:2470 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Dehydration, Lethargy, Failure to thrive, Anemia |
ORPHA:28 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Central Diabetes Insipidus |
|
Anorexia, Dehydration, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflu... |
ORPHA:96170 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Decreased body weight, Intra... |
OMIM:617564 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Mirage Syndrome |
|
Lymphopenia, Recurrent urinary tract infections, Short stature, Hypospadias, Cryptorchidism, Esop... |
OMIM:617053 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Decreased fetal movement, Death in infancy, Edema, Cryptorchidism, Thrombocytopenia... |
OMIM:608104 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Death in infancy, Polyhydramnios, Renal hypoplasia, Renal cyst... |
OMIM:614922 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Depressed nasal bridge, Bulbous nose, Flexion contracture, Wide nasal bridge, Jo... |
OMIM:601110 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... |
OMIM:615237 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Small for gestational age,... |
OMIM:208085 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis |
OMIM:616589 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypospadias, Postnatal growth retardation, Cryptorchidism, Cleft palat... |
ORPHA:397590 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Cleft palate |
OMIM:236110 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Small for gestational age, Postnatal growth retardation, Severe pos... |
ORPHA:73272 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Enteric Anendocrinosis |
|
Portal hypertension, Cholestatic liver disease, Dehydration, Malabsorption |
ORPHA:83620 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Broad nasal tip, Irritability, Gastroesophageal reflux, Difficulty walking, Joint contracture, Fa... |
OMIM:617393 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Extramedullary hem... |
ORPHA:79303 |
Burn-Mckeown Syndrome |
|
Short stature, Choanal atresia, Unilateral renal agenesis, Prominent nasal bridge, Underdeveloped... |
OMIM:608572 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Obesity, R... |
ORPHA:171839 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Intrauterine gr... |
ORPHA:26792 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Hypospadias, Anteverted nares, Postnatal growth retardation, High, narrow ... |
OMIM:248700 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Short stature, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repeti... |
OMIM:617862 |
Shigellosis |
|
Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Intestinal perforation, Perito... |
ORPHA:810 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Short stature, Gastritis, Increased mea... |
ORPHA:84064 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cyst, Ureteral agenes... |
OMIM:236500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... |
OMIM:209920 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Prominent nasal bridge, Anisocytosis, Flexion contracture, Lacticaciduria, Renal hy... |
OMIM:604273 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Obesity, Renal hypoplasia, Hyposmia, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Short stature, Hypospadias, Edema, Malabsorption, Underdev... |
ORPHA:2315 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Premature birth, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Abn... |
ORPHA:2256 |
Adrenomyodystrophy |
|
Short stature, Megacystis, Myopathy, Abnormality of the urinary system, Abnormal intestine morpho... |
ORPHA:977 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Allergic rhinitis, Angioedema, Hypereosinophilia, Chr... |
OMIM:256500 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Premature rupture of membranes, Hepatic steatosis, Decreased... |
OMIM:619573 |
Orofaciodigital Syndrome Xvii |
|
Short stature, Prominent nose, High, narrow palate, Renal hypoplasia, Decreased body weight, Micr... |
OMIM:617926 |
Renal Hypoplasia, Bilateral |
|
Short stature, Small for gestational age, Edema, Microscopic hematuria, Proteinuria, Premature bi... |
ORPHA:97362 |
Autosomal Agammaglobulinemia |
|
Malabsorption, Hepatitis, Dehydration, High palate, Neutropenia, Failure to thrive |
ORPHA:33110 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Gastroesophageal reflux, Pro... |
OMIM:618218 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Dehydration, Chor... |
ORPHA:27 |
Microvillus Inclusion Disease |
|
Villous atrophy, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abno... |
ORPHA:2290 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Short stature, Inability to walk, Bulbous nose... |
OMIM:617695 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly... |
OMIM:614700 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocyto... |
OMIM:606054 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Lessel-Kubisch Syndrome |
|
Narrow nasal bridge, Renal insufficiency, Short stature, Renal hypoplasia |
OMIM:618681 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Decreased muscle mass, ... |
ORPHA:298 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Short stature, Ataxia, Unilateral renal agenesis, Ectopic kidney, Long nose, Br... |
OMIM:616541 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior |
OMIM:620270 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec... |
OMIM:606367 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Renal hypoplasia, Tracheoesophageal fistula, Cleft... |
OMIM:614083 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose, Short stature, Cleft palate |
ORPHA:2015 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hepatomegaly, Hemolytic ... |
OMIM:619487 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... |
ORPHA:248111 |
Gracile Bone Dysplasia |
|
Death in infancy, Failure to thrive, Short stature, Asplenia, Hypoplastic spleen, Micropenis, Asc... |
OMIM:602361 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Polyhydramnios, Edema, Hamartoma of tongue, Splenomegaly, A... |
OMIM:269860 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Distal amyotrophy, Gait disturbance, Hepatic steatosis, Foot dorsi... |
OMIM:618400 |
Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Prominent nose, Bilateral renal hypoplasia, Leukopenia... |
OMIM:619488 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Eosinophilia,... |
ORPHA:2070 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proport... |
OMIM:619510 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Inability to walk, Functional abnormality of the bladder, Depression, Gai... |
DECIPHER:45 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Ab... |
ORPHA:247585 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Skelet... |
OMIM:614162 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Cryptorchidism, Renal hypoplasia, Truncal ataxia, Gait ... |
OMIM:616817 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Bilateral rena... |
OMIM:243605 |
Alg9-Cdg |
|
Villous atrophy, Hydrops fetalis, Gastroesophageal reflux, Bifid uvula, Hepatomegaly, Rhizomelia,... |
ORPHA:79328 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Increased mitochondrial number, Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, Micropenis, Hepatic steatosis,... |
OMIM:270400 |
Netherton Syndrome |
|
Short stature, Ectopic kidney, Malabsorption, Dehydration, Aminoaciduria, Hydronephrosis |
ORPHA:634 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Prematur... |
ORPHA:567983 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Prominent nasal bridge, Prominent nose, Cryptorchidism, Flexion contra... |
OMIM:214150 |
Meckel Syndrome 12 |
|
Anteverted nares, Ureteral hypoplasia, Renal hypoplasia, Wide nasal bridge, Bilateral renal agene... |
OMIM:616258 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Proteinuria, Anteverted nares, Decreased response to growth hormone stimulation te... |
OMIM:618347 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure ... |
ORPHA:70472 |
3-Methylglutaconic Aciduria, Type V |
|
Diaphragmatic eventration, Hypospadias, Elevated circulating aspartate aminotransferase concentra... |
OMIM:610198 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Intestinal perforation, Thrombocytopenia, Peritonitis, Rectal prolapse, ... |
ORPHA:90038 |
3-Methylglutaconic Aciduria, Type Viib |
|
Decreased fetal movement, Rhizomelia, Ataxia, Polyhydramnios, Bulbous nose, Flexion contracture, ... |
OMIM:616271 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Dehydration, Weight loss, Nephrocalcinosis, Hypercalciuria, Lethargy, ... |
OMIM:143880 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Short stature, Hypospadias, Ataxia, Lymphedema, Bilateral choanal atresia/stenosis... |
ORPHA:314679 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Diaphragmatic eventration, Severe short stature, Short stature, Congenital dia... |
OMIM:601186 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis... |
ORPHA:264580 |
Fraser Syndrome 2 |
|
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... |
OMIM:617666 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Renal cyst, High palate, Ga... |
OMIM:122470 |
Split-Hand/Foot Malformation 3 |
|
High palate, Renal hypoplasia, Cleft palate, Camptodactyly |
OMIM:246560 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Skeletal muscle atrophy, Short stature |
ORPHA:2380 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr... |
OMIM:601389 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Restlessness, Flexion contracture, Irritability, Short nose, Failure to thrive |
OMIM:618379 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased muscle lipid content, Myopa... |
OMIM:610717 |
Chylomicron Retention Disease |
|
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... |
OMIM:246700 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r... |
OMIM:614063 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Depressed nasal bridge, Gastroesophageal reflux, Bruxism |
OMIM:300434 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Failu... |
OMIM:614480 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Facial hypoton... |
OMIM:617595 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619386 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Supernumerary nipple, S... |
OMIM:614376 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Methylmalonic aciduria, Dehydration, Failur... |
ORPHA:289504 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Urinary incontinence, Long nose, Self-biting, Gastroesophageal reflux, Abnormal repetitive manner... |
OMIM:300912 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Short st... |
ORPHA:1667 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... |
OMIM:146510 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... |
OMIM:611376 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis |
ORPHA:2300 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Att... |
OMIM:620292 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Congenital diaphragmatic h... |
ORPHA:363528 |
Foxg1 Syndrome |
|
Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth retardation, ... |
ORPHA:561854 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, High palate, Obesity |
OMIM:300577 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Short stature, Camptodactyly of finger, Growth delay, Gastroesophageal reflux, ... |
ORPHA:1495 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri... |
ORPHA:369 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Stormorken Syndrome |
|
Short stature, Epistaxis, Howell-Jolly bodies, Prominent nose, Asplenia, Thrombocytopenia, Hematu... |
OMIM:185070 |
Combined Malonic And Methylmalonic Aciduria |
|
Methylmalonic aciduria, Failure to thrive, Dehydration |
OMIM:614265 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Short stature, Cleft soft palate, Intestinal malrotation, Leukocytosis... |
OMIM:619321 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functio... |
ORPHA:391487 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Polyhydramnios, Abnormality of the ureter, Short nose, Hydronephrosis |
ORPHA:1450 |
Vipoma |
|
Anorexia, Dehydration, Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice,... |
ORPHA:97282 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Lymphopenia, Short stature, Neutropenia, Renal hypoplasia, Renal cyst, Anem... |
OMIM:618460 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Acanthocytosis, Growth delay, Myopathy, Fat malabsorption, EMG: my... |
ORPHA:71 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Short uvula, Hydrops fetalis, Renal cyst, Renal hypoplasia, Cleft pal... |
OMIM:614091 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Neonatal death, Hepatomegaly, Premature birth, Nonimmune hydrops fetalis, Antever... |
OMIM:608013 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Short nose, Short stature, Attention deficit hyperactivity disorder |
OMIM:245570 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Short stature, Cryptorchidism, Abnormality of the urinary system, High pa... |
ORPHA:1695 |
Chung-Jansen Syndrome |
|
Anteverted nares, Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, High palate, Attenti... |
OMIM:617991 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Short stature, Renal agenesis, Splenomegaly, Cryptorchid... |
OMIM:618440 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Hyperactivity, Small for gestational age, Short stature, Anteverted nares, R... |
ORPHA:352490 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal age... |
ORPHA:2260 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Gro... |
ORPHA:541423 |
Alg6-Cdg |
|
Ataxia, Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Failure to ... |
ORPHA:79320 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the thymus, Vesicourete... |
ORPHA:567 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Fetal akinesia sequence, Self-injurious behavior, Arthrogryposis multiplex congenita, Intrauterin... |
OMIM:615282 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Ectopic kidney, Rectal prolapse... |
OMIM:235510 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Polyuria, Dehydration, Death in adolescence, Proximal tubulopathy, Death in... |
OMIM:560000 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death... |
OMIM:601847 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Polyhydramnios, Camptodactyly of finger, Asplenia, S... |
ORPHA:99776 |
Distal Duplication 6P |
|
Short stature, Prominent nasal bridge, Renal hypoplasia, Abnormality of the urinary system, Intra... |
ORPHA:1745 |
Bainbridge-Ropers Syndrome |
|
Polyhydramnios, Contracture of the proximal interphalangeal joint of the 4th finger, High palate,... |
OMIM:615485 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Anteverted nares, Congenital diaphragmatic hernia, Depressed nasal bridge, Promine... |
OMIM:618454 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Tubulointersti... |
OMIM:251000 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Miscarriage, Proporti... |
ORPHA:439167 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Short stature, Anteverted nares, Aggressive behavior, Bruxism, Wide ... |
OMIM:618342 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Polyhydramnios, Lymphedema, Thyroid l... |
OMIM:235255 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Depressed nasal bridge, Increased nuchal translucency, Short nose, Disproportio... |
OMIM:608022 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Bicarbonaturi... |
ORPHA:47159 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Short stature, Anteverted nares, Prominent nasal bridge, Aggressive ... |
OMIM:300558 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Anteverted nares, Cryptorchidism, Depressed nasal ridge, Obesity, Renal hypoplasia, Pseudohypopar... |
ORPHA:464288 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Short stature, Facial hypotonia, Overweight, Bulbous nose, High palate, Difficulty... |
ORPHA:280763 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Gastroesophageal reflu... |
ORPHA:300536 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile d... |
ORPHA:731 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Thrombocytosi... |
ORPHA:20 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Ataxia, Renal hypoplasia, 3-Methylglutaconic aciduria, Lethargy |
ORPHA:254913 |
Dermotrichic Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Aminoaciduria, Short ... |
ORPHA:99688 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Oligohydramnios |
OMIM:619053 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Lymphedema, Malabsorption, Splenomegaly, Anorexia, ... |
ORPHA:2930 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Premature birth, Depressed nasal bridge, Ankle flexion contracture, Inability to walk, Breech pre... |
OMIM:617802 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Depressed nasal bridge, Unsteady gait, Pica, Tongue thru... |
OMIM:617865 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... |
OMIM:301045 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Renal hypoplasia, Self-injurious behavior, Small thenar eminenc... |
OMIM:618914 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Obesity, High palat... |
OMIM:617752 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia, Anal atresia |
OMIM:276950 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced rhabdomyolysis, ... |
OMIM:201475 |
Wilson Disease |
|
Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, ... |
OMIM:277900 |
Trigonocephaly 1 |
|
High, narrow palate, Long penis, Wide nasal bridge, Short nose, Meckel diverticulum |
OMIM:190440 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Depressed nasal ridge, Intrauterine growth retardation, Short nose, Median clef... |
ORPHA:1832 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short stature, Hypospadias, Depressed nasal ridge, Short nose |
ORPHA:1355 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Dehydration, Gastroesophageal reflux, Failure to thrive |
OMIM:251120 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesop... |
ORPHA:534 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Anteverted nares, Polyhydramnios, Depressed nasal bridge, Choanal atresia, Coronal... |
OMIM:619859 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Ataxia, Polyhydramnios, Aggressive behavior, Depressed nasal bridge, Irritability,... |
OMIM:619833 |
Christianson Syndrome |
|
Death in early adulthood, Decreased muscle mass, Cachexia, Abnormality of the nose, Dysphagia, Ga... |
ORPHA:85278 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Premature birth, Thrombocytosis, Congenital hypoplastic anemia,... |
OMIM:105650 |
Tarp Syndrome |
|
Meckel diverticulum, Anteverted nares, Wide nasal bridge, Horseshoe kidney, Cleft palate, Tongue ... |
OMIM:311900 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Short stature, Proteinuria, Prominent nasal bridge, Cryptorchidism, Renal hy... |
ORPHA:1307 |
Smith-Magenis Syndrome |
|
Decreased fetal movement, Short stature, Failure to thrive in infancy, Anteverted nares, Renal hy... |
ORPHA:819 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Prominent nasal bridge, Aggressive behavior, Gait ataxi... |
OMIM:609425 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Abnormal nasopharynx morphology, Renal agenesis, Aganglionic me... |
OMIM:607323 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decrease... |
ORPHA:79319 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ... |
OMIM:609053 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Generalized limb muscle atrophy, Myopathy, High palate, Delayed puberty, Short nose, Anemia |
ORPHA:2598 |
Arima Syndrome |
|
Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Ataxia, Esophageal varix, Stage 5 chr... |
OMIM:243910 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Glo... |
ORPHA:2137 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Thrombocytosis, Edema, Anorexia, Leukocytosis, Dehydration, Weig... |
ORPHA:134 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Splenomegaly, Inability to walk, Renal hypoplasia, Growth delay, Nephrocalcinosis, Am... |
OMIM:617913 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Hyperactivity, Hypospadias, Anteverted nares, Cryptorchidism, Obesity, Cleft... |
ORPHA:254346 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syn... |
OMIM:219800 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
Cystic Fibrosis |
|
Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hyperca... |
OMIM:219700 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Pancytopenia, Cryptorchidism, Renal hypo... |
ORPHA:85321 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Broad nasal tip, Postnatal growth retardation, Splenomegaly, Pancre... |
ORPHA:1655 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... |
OMIM:617270 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Growth delay, Nephrocalcinosis, Distal renal tubular acidosis, Failu... |
OMIM:602722 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Nephro... |
ORPHA:79327 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Abnormality of the anterior pituitary, R... |
ORPHA:75389 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Slender nose, Postnatal growth retardation, Cryptorchidism, Gastroesopha... |
OMIM:615419 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dehydration |
ORPHA:79159 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stom... |
ORPHA:2869 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Broad nasal tip, Splenomegaly, Self-injurious behavior, High palate, Abnormal repet... |
OMIM:615637 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Ataxia, Facial hypotonia, Anteverted nares, Depressed nasal bridge, Inability to wal... |
OMIM:300260 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Short stature, Camptodactyly of finger, Pyloric stenosis, Cryptorchidism, Ap... |
ORPHA:3138 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Megaloblastic anemia, Hemolytic-uremic sy... |
ORPHA:79282 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Anteverted nares, Depressed nasal bridge, Under... |
OMIM:619005 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Anteverted nares, High, narrow palate, Cryptorchidism, Abnorma... |
ORPHA:2849 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Short stature, Anteverted nares, Polyhydramnios, Depressed na... |
OMIM:617157 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... |
ORPHA:98818 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Death in childhood, Death in infancy, Le... |
OMIM:243150 |
Kinsship Syndrome |
|
Death in infancy, Short stature, Abnormal repetitive mannerisms, Bulbous nose, Renal hypoplasia, ... |
OMIM:619297 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Abnormality of the upper urinary tract, Abnormality of the urethra, Cleft palate, ... |
ORPHA:2145 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenome... |
OMIM:211600 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Polyhy... |
OMIM:619004 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Myopathy, Lymphocytosis, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention deficit h... |
OMIM:617914 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Short stature, Ataxia, Depressed nasal bridge, Aggressive behavior, ... |
ORPHA:369891 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Renal hypoplasia |
OMIM:615665 |
Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Bone marrow hypocellularity, Lethargy, Th... |
OMIM:243500 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... |
OMIM:175500 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal... |
OMIM:613870 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... |
ORPHA:101330 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Meckel diverticulum, Thick nasal alae, Dysphagia |
ORPHA:163961 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Abnormal rena... |
OMIM:610883 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Prominent nasal bridge, Intestinal malrotation, Ectopic kidney, Cryptorchidism, Wide nasal bridge... |
ORPHA:401935 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Wide nose, Proteinuria, Splenomegaly, Inability to walk, Flexion contracture, Neutr... |
OMIM:617303 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Increased muscle lipid content, Knee flexion contracture, High palate, Macr... |
OMIM:608836 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Short stature, Anteverted nares, Bulbous nose, Wide nasal bridge, Growth delay, Glossoptosis, Hig... |
OMIM:613604 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria... |
OMIM:610205 |
Distal Deletion 10Q |
|
Prominent nose, Functional abnormality of the bladder, High palate, Vesicoureteral reflux, Spina ... |
ORPHA:96148 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Wide nose, Short stature, Small for gestational age, Hypospadias, N... |
OMIM:257300 |
Cholera |
|
Abnormality of renal excretion, Premature birth, Achlorhydria, Miscarriage, Dehydration, Irritabi... |
ORPHA:173 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Short stature, Hypospadias, Intestinal malrotation, Depres... |
ORPHA:7 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Short stature, Intestinal malrotation, Jejunal atresia, Intrauterine growt... |
ORPHA:1201 |
Miller-Dieker Syndrome |
|
Anteverted nares, Ataxia, Polyhydramnios, Growth delay, Nephropathy, Short nose |
ORPHA:531 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Short stature, Failure to thrive in infancy, Small for gestational age, Ataxia, Bu... |
OMIM:614104 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria, Depression, High pal... |
OMIM:620242 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Inability to walk, Wide nasal bridge, Cleft palate, Growth delay, Bruxism, Short... |
OMIM:615716 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Decreased muscle mass, Short stature, Microcytic anemia, Hepatospl... |
OMIM:619013 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Ataxia, Facial hypotonia, Anorexia, Oral-pharyngeal dy... |
ORPHA:2131 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Decreased fetal movement, Absence of renal corticomedullary differentiation, Broad nasal tip, Bif... |
OMIM:619758 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Hypospadias, Polyhydramnios, Anteverted nares, Flexion contracture, Hy... |
OMIM:616897 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Depressed nasal bridge, Cryptorchidism, Renal hypoplasia, Wide nasal bridge, Growth ... |
OMIM:615546 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral r... |
OMIM:194050 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Dehydration, Neu... |
OMIM:251110 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Aggressive behavior, Celiac disease, Bulbous nose, Atten... |
ORPHA:284169 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Depressed nasal bridge, High, narrow palate,... |
ORPHA:79322 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Decreased fetal movement, Depressed nasal bridge, Edema, Pericar... |
OMIM:608776 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, High, narrow p... |
OMIM:208150 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Depressed nasal bridge, Inability to walk, Lobulated tongue, Short nose, Abnorm... |
OMIM:613443 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Generalized lymphadenopathy, Hemolytic anemia, Pancytopenia, Ed... |
OMIM:615846 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Scapular winging, Small for gestational age, Anteverted nares, Depressed nasal bri... |
OMIM:617796 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Gait ataxia, Myopathy, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Pierpont Syndrome |
|
Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Decreased body weight, Micropenis, Fai... |
OMIM:602342 |
Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormal... |
ORPHA:2409 |
Smith-Magenis Syndrome |
|
Hyperactivity, Short stature, Velopharyngeal insufficiency, Abnormal renal morphology, Self huggi... |
OMIM:182290 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Hamartoma of tongue, Prominent nose, Cryptorchidism, Renal hypoplasia,... |
OMIM:616300 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,... |
OMIM:619418 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Anorexia, Foll... |
OMIM:619381 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Broad nasal tip, Cryptorchidism, S... |
ORPHA:3306 |
Alagille Syndrome 1 |
|
Long nose, Multiple small medullary renal cysts, Vesicoureteral reflux, Depressed nasal bridge, R... |
OMIM:118450 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Grow... |
ORPHA:75233 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Short nose, Depressed nasal ridge, ... |
OMIM:613885 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration,... |
ORPHA:652 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Thrombocytop... |
OMIM:251100 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Renal agenesis, Short stature, Premature birth, Antever... |
ORPHA:280200 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Short stature, Decreased response to growth hormone stimulation test, ... |
ORPHA:457240 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Dehydration, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypopl... |
ORPHA:79404 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Wide nasal bridge, Growth delay, Anteriorly placed anus, High pala... |
OMIM:601390 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hyperactivity, Short stature, Hypospadias, Depressed nasal bridge, ... |
OMIM:300354 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Umb... |
ORPHA:2143 |
Microsporidiosis |
|
Glossitis, Myositis, Cholangitis, Cachexia, Anorexia, Abnormality of the spleen, Peritonitis, Ure... |
ORPHA:2552 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:616034 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, Dehydration, We... |
ORPHA:171876 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... |
OMIM:266810 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Rhabdomyolysis, Dehydration, Decreased liver function, Neonatal death, Myoglobinuria |
OMIM:602199 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short stature, Inability to walk, Growth delay, Short nose |
ORPHA:438178 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Diaphragmatic eventration, Ataxia, Bilateral ... |
ORPHA:66634 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Ano... |
ORPHA:98850 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Small for gestational age, Abnormality of the kidney, Hypospadias, Aggressive beha... |
OMIM:123450 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Gastroesophageal reflux, Hepatic steatosis, Short stature, Portal hypertension, Decr... |
OMIM:613658 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Anteverted nares, Congenital diaphragmatic hernia, D... |
ORPHA:1001 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Basal ganglia gliosis, Lateral ventricle dilatation |
OMIM:607596 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Anteverted nares, Unilateral renal agenesis, Ectopic kidney,... |
OMIM:617641 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... |
ORPHA:2959 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, High palate, Short nose |
ORPHA:217385 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Depressed nasal bridge... |
OMIM:620005 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Anteverted nares, Depressed nasal bridge, Malabsorption, Protruding tongue, Macrog... |
OMIM:242860 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Prolidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:170100 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... |
OMIM:612069 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Hypospadias, Intestinal malrotation, Anteverted nares, Prominent nose, Depressed... |
OMIM:618316 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Short stature, Failure to thrive in infancy, Prominent nasal bridge, Malabso... |
ORPHA:1225 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Centrally nucleated skeletal muscle fibers, Splenome... |
OMIM:613327 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Hepatic steatosis, Obesity, Oligozoospermia |
OMIM:615703 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Dehydration,... |
ORPHA:18 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Obesity, Mi... |
OMIM:614613 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Calf muscle pseudohypertrophy, Short stature, Ataxia, Acanthocytosis, Postnat... |
ORPHA:96180 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Short stature, Elevated circulating as... |
OMIM:608779 |
Coffin-Siris Syndrome 6 |
|
Short stature, Depressed nasal bridge, Broad nasal tip, High, narrow palate, Cleft palate, Tics, ... |
OMIM:617808 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Renal hypoplasia, Vesicoureteral reflux, Short nose, Failure to thrive, Hydrone... |
OMIM:613735 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Mild postna... |
ORPHA:90324 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia... |
ORPHA:139466 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, High, narrow palate, Gastroesophageal reflux, Thick nasal alae, Self-mutilation, ... |
OMIM:619950 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Short stature, Depressed nasal bridge, Cleft palate, M... |
OMIM:241800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Short stature, Ataxia, Aggressive behavior, Underdeveloped nasal alae, Self-injurious behavior, H... |
OMIM:300986 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Short stature, Ataxia, Anteverted nares, Decreased response to growth hormone stim... |
OMIM:601853 |
Teebi Hypertelorism Syndrome 2 |
|
Hypospadias, Depressed nasal bridge, Broad nasal tip, Cleft palate, High palate, Attention defici... |
OMIM:619736 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Decreased fetal movement, Mild postnatal growth retardation, Ataxia, Facial palsy, ... |
ORPHA:456312 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, ... |
ORPHA:1332 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Decreased fetal movement, Short stature, Pancreatic fibrosis, Ataxia, Postnatal gro... |
OMIM:616263 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Gait ataxia, High palate, Compulsive behaviors, ... |
OMIM:135900 |
Congenital Myopathy 17 |
|
Failure to thrive in infancy, Polyhydramnios, Fetal akinesia sequence, Renal hypoplasia, Cleft pa... |
OMIM:618975 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Dysphagia, Bradykinesia, Agitation, Bruxism, Abnormal repetitive mannerisms |
OMIM:617435 |
Behavioral Variant Of Frontotemporal Dementia |
|
Thickened nuchal skin fold, Restrictive behavior, Collectionism, Restlessness, Aggressive behavio... |
ORPHA:275864 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Short stature, Intestinal malrotation, Prominent nose, Narrow palate, High palate,... |
OMIM:613684 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, ... |
ORPHA:319182 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms |
OMIM:619150 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Irritability, Polydipsia, Failure to... |
OMIM:125800 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Irritability, Polydipsia, Failure to... |
OMIM:304800 |
Williams Syndrome |
|
Hypoplasia of penis, Periorbital edema, Rectal prolapse, Abnormal tubulointerstitial morphology, ... |
ORPHA:904 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gliosis |
OMIM:221770 |
Metachromatic Leukodystrophy |
|
Ataxia, Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemob... |
ORPHA:512 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Anteverted nares, Aggressiv... |
ORPHA:261494 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr... |
ORPHA:79259 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Gliosi... |
ORPHA:79243 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, High palate, Tics, Compulsive behaviors, Micropenis, Hepatic steatosis, Abno... |
OMIM:619475 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Feta... |
ORPHA:49 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, High palate, Short nose |
ORPHA:261120 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Anteverted nares, Urinary incontinence, Intestin... |
ORPHA:2729 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Edema, Absence of re... |
OMIM:120330 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Gastroesophageal reflux,... |
ORPHA:508488 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Progressive gait ataxia, Congenital contracture, G... |
ORPHA:191 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc... |
OMIM:614034 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Hepatomegaly, Anteverted nares, Inability to walk, Flexion contracture, Wide... |
OMIM:619383 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... |
OMIM:256810 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Ataxia, Aggressive behavior, Postnatal growth retardation, Prominent nose, Bulbous... |
OMIM:156200 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Prominent nose, Postnatal growth retardation, Cryptorchidism, Dehydration, Macroglo... |
ORPHA:96191 |
Desmosterolosis |
|
Severe short stature, Renal agenesis, Intestinal malrotation, Depressed nasal bridge, Renal hypop... |
ORPHA:35107 |
Obesity And Hypopigmentation |
|
Polyphagia, Hepatic steatosis, Obesity |
OMIM:620195 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Familial Cold Urticaria |
|
Polydipsia, Dehydration |
ORPHA:47045 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Short nose, Gastroesophageal reflux |
ORPHA:85277 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the kidney, Broad nasal tip, Overweight, Repetitive compulsive behavior, Flexion c... |
ORPHA:391372 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... |
ORPHA:1606 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Recurrent urinary tract infections, Ataxia, Premature birth, Abnormality of ... |
OMIM:619229 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormal repetiti... |
ORPHA:464311 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Wide nose, Hypospadias, Anteverted nares, Narrow nasal ridge,... |
OMIM:619293 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Anteverted nares, Prominent nasal bridge, Aggressive behavior, Underdeveloped nasal alae, High pa... |
OMIM:618825 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Hypospadias, Premature birt... |
ORPHA:1708 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Anteverted nares, Polyhydramnios, Lymphedema, Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
Acrocephalopolydactyly |
|
Short nose, Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly |
ORPHA:221054 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Premature birth, Depressed ... |
ORPHA:1830 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre... |
ORPHA:85450 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Urethral stenosis, Depressed nasal ridge, Cleft palate, Growth delay, Aplasia/Hypoplas... |
ORPHA:1727 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... |
OMIM:619991 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Renal hypoplasia |
OMIM:600151 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Hypospadias, Intestinal malrotation, Congenital diaphragmatic hernia, Long nose, N... |
OMIM:617602 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Ataxia, Anorexia, Lacticaciduria, Dehydration, Growth delay, Tip-toe gait, Compulsi... |
ORPHA:3008 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... |
OMIM:615438 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Anteverted nares, Protruding tongue, Postnatal growth retardation, D... |
OMIM:301040 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, High palate, Um... |
OMIM:613544 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Elevated circula... |
OMIM:618805 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Premature birth, Polyhydramnios, Elevated stool chloride content, Dehydration, Growth delay, Fail... |
OMIM:214700 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... |
ORPHA:309108 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Short stature, Fatty replacement of skeletal muscle, Generalized amyotrophy, Incre... |
ORPHA:52430 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ... |
ORPHA:464306 |
Jacobsen Syndrome |
|
Broad columella, Abnormality of the anus, Death in infancy, Multicystic kidney dysplasia, Short s... |
ORPHA:2308 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Andersen-Tawil Syndrome |
|
Short stature, Bulbous nose, Renal hypoplasia, Wide nasal bridge, Growth delay, Renal tubular dys... |
ORPHA:37553 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Ataxia, Cryptorchidism, Obesity, Cleft palate, Depression, Azoospermia, Gast... |
ORPHA:10 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Anteverted nares, Diastasis recti, Polyhydramnios, Depressed nasal bridge, Postnatal growth retar... |
ORPHA:254528 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Short nose, Short stature |
ORPHA:2370 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, ... |
OMIM:220110 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Diastasis recti, Portal hypertension, Breech presentation, Fl... |
ORPHA:440713 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Aggressive behavior, Horseshoe kidney, Depression, High pala... |
ORPHA:65286 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomegaly, Nephrotic syndr... |
OMIM:618999 |
Radio-Tartaglia Syndrome |
|
Ataxia, Anteverted nares, Impulsivity, Aggressive behavior, Depressed nasal bridge, High, narrow ... |
OMIM:619312 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Short nose, Failure ... |
OMIM:619179 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Ataxia, Abnormality of the upper urinary tract, Moderate albuminuria, Dehydration, Wei... |
ORPHA:99885 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Broad-based gait, Reticulocytosis, Ataxia, Acanthocy... |
ORPHA:14 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Anorexia, Pedal edema, Weight loss, Unilateral r... |
ORPHA:49041 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Prominent nose, Flexion contracture, Renal cyst, Knee flexion contracture, Gastroesophageal reflu... |
OMIM:210710 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Gastroes... |
ORPHA:17 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Anteverted nares, Underdeveloped nasal alae, Congeni... |
ORPHA:2031 |
Ritscher-Schinzel Syndrome 4 |
|
Decreased fetal movement, Short stature, Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism... |
OMIM:619435 |
Miller-Dieker Lissencephaly Syndrome |
|
Decreased fetal movement, Anteverted nares, Polyhydramnios, Cryptorchidism, Wide nasal bridge, Cl... |
OMIM:247200 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
Restrictive Dermopathy |
|
Ureteral duplication, Decreased fetal movement, Multiple joint contractures, Hypospadias, Camptod... |
ORPHA:1662 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Tics, Abnormal repetitive ... |
OMIM:616364 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... |
OMIM:261515 |
Adrenal Hypoplasia, Congenital |
|
Renal salt wasting, Cryptorchidism, Dehydration, Oligozoospermia, Azoospermia, Muscular dystrophy... |
OMIM:300200 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... |
OMIM:614921 |
16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Camptodactyly of finger, Anteverted nares, Long nose, Bulbous nose,... |
ORPHA:261211 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Short stature, Ataxia, Cryptorchidism, Polyphagia, Growth del... |
ORPHA:228402 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Hypospadias, Depre... |
OMIM:219000 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Protein-losing enteropathy, Failu... |
ORPHA:95428 |
Down Syndrome |
|
Thickened nuchal skin fold, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Ren... |
ORPHA:870 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myelomeningocele, Contracture of ... |
OMIM:620141 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Restlessness, Hyperactivity, Short stature, Facial hypotonia, Promi... |
OMIM:300534 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Leukocytosis, Rhabdomyolysis, D... |
ORPHA:94093 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Hematochezia, Anemia, Compulsive behaviors, Decreased body weight,... |
ORPHA:209964 |
Arthrogryposis, Distal, Type 2A |
|
Polyhydramnios, Knee flexion contracture, High palate, Spina bifida occulta, Wrist flexion contra... |
OMIM:193700 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Dark yel... |
ORPHA:30391 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Dehydration, Growth delay, Failu... |
OMIM:615453 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Growth delay, Iron deficiency anemia,... |
OMIM:226300 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Failure to thrive, Renal sodium wasting, Dehydration |
ORPHA:556030 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms, Gastroesophageal reflux, Gait distu... |
OMIM:301094 |
Tetrasomy 12P |
|
Anteverted nares, Short stature, Cachexia, Abnormal soft palate morphology, Short nose, Anal atresia |
ORPHA:884 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Cryptorchidism, Renal hypoplasia, Micropenis, Anal atresia, Median... |
OMIM:264480 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Failure to thrive, Dehydration, Renal salt wasting |
OMIM:203400 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hepatic failure, Failure to thrive, Hepatic steatosis |
OMIM:617872 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Anteverted nares, Intrahepatic cholestasis, Bulbous nose, Meni... |
ORPHA:46059 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Palpebral edema, Depressed nasal bridge, Bulbous nose, Growth delay, Macroglossia, Gastroesophage... |
ORPHA:261144 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Death in infancy, Congenital contracture, High palate, Short nose |
OMIM:615042 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Polyhydramnios, Wide nasal bridge, Nephrocalcinosis, High palate, Neutropenia, Int... |
OMIM:618005 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Short stature, Ataxia, Inability to w... |
OMIM:615356 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Short nose |
OMIM:616910 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Elbow contracture, A... |
OMIM:617201 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Asplenia, Renal hypoplasia, Abdo... |
OMIM:270100 |
Gracile Syndrome |
|
Death in early adulthood, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron c... |
ORPHA:53693 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Harlequin Ichthyosis |
|
Self-injurious behavior, Depressed nasal ridge, Dehydration |
ORPHA:457 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atre... |
OMIM:115470 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ataxia, Supernumerary nipple, Aggressive behavior, Pyloric steno... |
ORPHA:457279 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Growth delay, Failure to thrive, Dehydration, Renal salt wasting |
OMIM:610600 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Hypospadias, Congenital diaphragmatic hernia, Prominent nasal bridge, Cryptorchidi... |
ORPHA:251071 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hepatic steatosis, Limb hypertonia |
OMIM:615918 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Anteverted nares, Aggressive behavior, Bulbous nose, Wide nasal ... |
OMIM:300958 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Ataxia, Anteverted nares, Impulsivity, Aggressive behavior, Prominent nasal bridge... |
OMIM:616977 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral r... |
OMIM:617660 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Wide nasal bridge |
OMIM:619690 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Wide nasal bridge, S... |
OMIM:617061 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepati... |
OMIM:249000 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Aggressive beh... |
OMIM:600430 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Hypospadias, High palate, Intrauterine growth retardation, Short nose |
ORPHA:1913 |
Distal Duplication 18Q |
|
Thickened nuchal skin fold, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Choan... |
ORPHA:1716 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Renal steatosis |
OMIM:261650 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Anore... |
ORPHA:223 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Scapular winging, Short stature, Camptodactyly of finger, Spina bifida, Anteverted nares, Depress... |
ORPHA:1327 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postn... |
OMIM:614732 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Myopathy, Macrovesicular hepatic steatosis |
OMIM:618234 |
Ogden Syndrome |
|
Lymphedema, Microvesicular hepatic steatosis, Iron deficiency anemia, High palate, Macrovesicular... |
OMIM:300855 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Hypospadias, Depressed nasal bridge, Broad nasal tip, High palate, Low frustration... |
ORPHA:363686 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Macroglossia, Intrau... |
ORPHA:1914 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Anteverted nares, Ureteral hypoplasia, Poly... |
OMIM:614080 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Ren... |
OMIM:231680 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hyperactivity, Hypospadias, Diastasis recti, Depressed nasal bridge, Large f... |
ORPHA:457485 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Ataxia, Cachexia, Malabsorption, Anorexia, S... |
ORPHA:3452 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
Hemochromatosis, Type 4 |
|
Anemia, Hepatomegaly, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Methioninuria, Depression, High palate, Failure to thrive, Hepatic steatosis, Pan... |
OMIM:236200 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Wide nose, Short stature, Severe temper tantrums, Polyhydramnios, Anteverted nares... |
OMIM:618027 |
Peho-Like Syndrome |
|
Short nose, Edema |
OMIM:617507 |
Monosomy 13Q34 |
|
Epistaxis, Prominent nasal bridge, Prominent nose, Broad nasal tip, Fetal pyelectasis, Obesity, G... |
ORPHA:96168 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Decreased fetal movement, Hepatic steatosis |
OMIM:615119 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Renal insufficiency, Re... |
ORPHA:99826 |
Tarp Syndrome |
|
Broad-based gait, Extramedullary hematopoiesis, Anteverted nares, Cryptorchidism, Wide nasal brid... |
ORPHA:2886 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Neutro... |
OMIM:616395 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... |
OMIM:172700 |
Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Facial palsy, Depressed nasal bridge, High palate, Dysphagia, Short nose |
OMIM:614744 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, P... |
OMIM:214800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Depressed nasal bridge, Cachexia, ... |
ORPHA:79076 |
Trisomy 12P |
|
Thickened nuchal skin fold, Short stature, Supernumerary nipple, Wide nasal bridge, Cleft palate,... |
ORPHA:1699 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, Growth de... |
OMIM:614069 |
Plin1-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Bulbous nose, Wide nasal bridge, Self-injurious behavior, High palate,... |
OMIM:613174 |
Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, Small for gestational age, Abnormality of the kidney, ... |
ORPHA:171929 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Premature birth, Goiter, Splenomegaly... |
ORPHA:525731 |
Developmental And Epileptic Encephalopathy 30 |
|
Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Thickened nuchal skin fold, Hypoplasia of penis, Camptodactyly of finger, Prominent nasal bridge,... |
ORPHA:2083 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Penile freckling, Large for gestational age, Splenomegaly, ... |
OMIM:605309 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Hypospadias, Anteverted nares, Prominent nasal bridge, Echogenic intracardiac focu... |
OMIM:617751 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnorma... |
ORPHA:847 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behavior, Prolonged ... |
OMIM:618828 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypopituitarism, Short stature, Anteverted nares, Depressed nasal bridge, Anterior pituitary hypo... |
OMIM:613038 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Sti... |
OMIM:615415 |
Femoral-Facial Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kid... |
ORPHA:1988 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, Broad-based gait, Wide nose, Prominent nasal bridge, Con... |
ORPHA:251028 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Dehydration, Renal salt wasting |
OMIM:264350 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Restlessness, Edema of the dorsum of feet, Edema of the dorsum of hands, Fle... |
ORPHA:544503 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Obesity, Compul... |
OMIM:618430 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Short stature, Cleft palate, Vesicoureteral reflux, Short n... |
OMIM:614261 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestational age, Renal... |
OMIM:229850 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short columella, Abnormal nostril mo... |
ORPHA:1248 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Dehydration |
ORPHA:313 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hepatic steatosis |
ORPHA:436182 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Death in infancy, Ataxia, Fetal ascites, Polyhydramnios, Bone-marrow foam cells, Sp... |
OMIM:607625 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Kagami-Ogata Syndrome |
|
Premature birth, Diastasis recti, Polyhydramnios, Large for gestational age, Postnatal growth ret... |
ORPHA:254519 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, C... |
ORPHA:445038 |
Macrocephaly-Developmental Delay Syndrome |
|
Palpebral edema, Wide nasal bridge, Hepatosplenomegaly, Self-injurious behavior, High palate, Abn... |
ORPHA:397612 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Sweeney-Cox Syndrome |
|
Choanal atresia, Polyhydramnios, Broad nasal tip, Asplenia, Underdeveloped nasal alae, Velopharyn... |
OMIM:617746 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft p... |
ORPHA:261197 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Short nose, Short stature, Stereotypical hand wringing |
ORPHA:289266 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Gastroesophageal... |
ORPHA:208447 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Polyhydramnios, Anteverted nares, ... |
ORPHA:3339 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Prominent nose, Flexion con... |
OMIM:619503 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Congenital hepati... |
ORPHA:93271 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t... |
ORPHA:99228 |
Monosomy X |
|
Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t... |
ORPHA:99226 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Turner Syndrome |
|
Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t... |
ORPHA:881 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Micropenis, Short... |
ORPHA:268261 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Skeletal muscle steatosis, Renal tubular dy... |
ORPHA:436271 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Intestinal malrotation, Meningocele, Duodenal stenosis |
ORPHA:1759 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Small for gestational age, Depressed nasal bridge, Decreased response ... |
OMIM:614114 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Wide nose, Renal agenesis, Polyhydramnios, Fetal akinesia sequence, Spi... |
OMIM:256520 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Bulbous nose, High palate, Gastroesophageal reflux, Attention deficit hyper... |
OMIM:619934 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranoproliferativ... |
OMIM:619525 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephro... |
OMIM:240300 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose, Gait disturbance |
ORPHA:2429 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function, Congenital portosystemic venous shunt, Persistent pa... |
OMIM:601466 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... |
OMIM:601346 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Short stature, Hypospadias, Facial palsy, Spina bifida, Renal hypoplasia, Horsesh... |
ORPHA:508498 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Growth de... |
OMIM:614749 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Gait disturbance... |
OMIM:600795 |
Potocki-Shaffer Syndrome |
|
Micropenis, Wide nasal bridge, Short nose, Underdeveloped nasal alae |
OMIM:601224 |
Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia |
ORPHA:1200 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Coffin-Siris Syndrome |
|
Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Postna... |
ORPHA:1465 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Microscopic hematuria, Chronic kidney disease, Abnormal urine p... |
ORPHA:411634 |
Ollier Disease |
|
Lymphangioma, Multiple enchondromatosis, Abnormal cartilage morphology, Anemia |
ORPHA:296 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... |
ORPHA:177907 |
Trisomy 18 |
|
Short stature, Camptodactyly of finger, Cachexia, Abnormality of the upper urinary tract, Congeni... |
ORPHA:3380 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aganglionic megacolon, Short stature, Aggressive behavior, Ileus, Gait disturba... |
OMIM:300352 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Palpebral edema, Abnormality of the kidney, Lymphedema, Aggressive behavior, Bu... |
OMIM:606232 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Visceral Myopathy 1 |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Polyhydramnios, Pancreatitis, Microcolon, M... |
OMIM:155310 |
Renpenning Syndrome 1 |
|
Short stature, Hypospadias, Phimosis, Bulbous nose, Renal hypoplasia, Cleft palate, Wide nasal br... |
OMIM:309500 |
Rotor Syndrome |
|
Bilirubinuria, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes |
ORPHA:3111 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Premature birth, Polyhydramnios, Anteverted nares, Depressed nasal bridge, Splenom... |
OMIM:115150 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Cryptorchidism, Ob... |
ORPHA:96147 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Aarskog-Scott Syndrome |
|
Short stature, Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral crypto... |
OMIM:305400 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Prominent nose, Unsteady gait, Wide nasal bridge, High palate, Attention defici... |
OMIM:618205 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Au-Kline Syndrome |
|
High palate, Gastroesophageal reflux, Vesicoureteral reflux, Bifid uvula, Cryptorchidism, Lipomye... |
OMIM:616580 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Wide nose, Small for gestational age, Anteverted nares, Proportionate short sta... |
ORPHA:391408 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Renal malrotation, Short stature, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ... |
OMIM:615866 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Short stature, Hypospadias, Spina bifida, Apla... |
ORPHA:84 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, Horseshoe kidney, ... |
ORPHA:93260 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ... |
OMIM:618641 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Myopathy, Abdominal obesity, Muscular dystro... |
OMIM:615980 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... |
OMIM:615873 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Short stature, Cachexia, Ileus, Athetosis, Self-mut... |
ORPHA:52503 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Disproportion... |
ORPHA:93298 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Asplenia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Esophageal atre... |
OMIM:265380 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Polyhydramnios, Large for gestational age, Congenital diaphragmatic hernia,... |
ORPHA:116 |
Fg Syndrome 3 |
|
Death in infancy, Hyperactivity, Pyloric stenosis, Cryptorchidism, Joint contracture |
OMIM:300406 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Depressed nasal bridge, Cryptorchidism, Bulbous ... |
OMIM:619103 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Breech presentation, Cryptorchidism, ... |
OMIM:615824 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Donnai-Barrow Syndrome |
|
Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Depressed nasal bridge, Bro... |
OMIM:222448 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cryptorchidism, Abnormal mesentery morphology, Functional abnormality of t... |
ORPHA:2953 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nose, High, ... |
ORPHA:435638 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, Tongue thrusting,... |
OMIM:619580 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper... |
OMIM:618183 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Dehydration, Abnormal tubulointerstitial morphology, Growth delay, Renal tubul... |
ORPHA:411629 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Hypospadias, Anteverted nares, Underdeveloped nasal alae, Postnatal growth retarda... |
OMIM:613026 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Dysphagia, Loss of ambulation, Emotional lability, Abnormal repetitive mannerisms |
ORPHA:79264 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Anteverted nares, Depressed nasal bridge, Bulbous nose, M... |
OMIM:614105 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ... |
ORPHA:2052 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Fetal polyuria, Small for gestational age, Short stature, Polyhydramnios, Renal... |
OMIM:241200 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Anteverted nares, Cryptorchidism, Wide nasal bridge, Abnormal... |
ORPHA:2510 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Inability to walk, Flexion contracture, Wide nasal bridge, Facial dipleg... |
OMIM:218000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenitis... |
OMIM:615895 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Aggressive behavior, Narrow palate, Self-injurious behavior, Ga... |
ORPHA:313892 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Ataxia, Anteverted nares, Esophageal atresia, Abnormal renal morphology, T... |
ORPHA:59315 |
Achondrogenesis |
|
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Hydrops fetal... |
ORPHA:932 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Broad nasal tip, Abnormal renal morphology, Wide nasal bridge, Cleft palat... |
OMIM:239300 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Vesi... |
OMIM:301068 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Acute myeloid leukemia, Small f... |
OMIM:260400 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... |
ORPHA:227990 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Decreased testicular size, Hyperactivity, Short stature, Hypospadias, Anteverted nares, Protrudin... |
OMIM:309580 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Ureteral stenosis, Ataxia, Anteverted nares, Large for gestational age, Depressed na... |
OMIM:615398 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A... |
OMIM:276700 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased fetal movement, Wide nose, Short stature, Anteverted nares, Unilateral renal agenesis, ... |
OMIM:213980 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Hyperactivity, Anteverted nares, Aggressive behavior, Inability to walk,... |
OMIM:103050 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph... |
OMIM:188400 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Aggressive behavior, Gait ataxia, High palate, Compulsive behaviors, Attent... |
ORPHA:476126 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Severe temper tantrums, Obesity, Short nose, Stereotypical hand wringing |
OMIM:619854 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Myopathy, Limb-girdle muscular dystro... |
ORPHA:369840 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Ataxia, Emotional lability, Agitation, Lethargy, Failure to thrive, Abnormal repeti... |
ORPHA:927 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... |
ORPHA:227982 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Intestinal atresia, Anemia, Duodenal at... |
ORPHA:3405 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Ataxia, Short nose |
ORPHA:833 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Decreased fetal movement, Hyperactivity, Facial hypotonia, Premature birth, Polyhydramnios, Obesi... |
ORPHA:589821 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Palpebral edema, Unilateral renal agenesis, Anteverted nares,... |
OMIM:181270 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Polyhydramnios, Contractures of the large joints, Hi... |
ORPHA:329178 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Splenomegaly, Abnormality of skeletal muscle fiber size, Polycystic... |
ORPHA:2348 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Decreased fetal movement, Anal stenosis, Aganglionic megacolon, Short stature, Broad nasal tip, I... |
OMIM:614207 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol... |
OMIM:612563 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Failure t... |
ORPHA:528 |
Congenital Myopathy 22B, Severe Fetal |
|
Polyhydramnios, Flexion contracture, High palate, Generalized amyotrophy, Waddling gait, Hepatome... |
OMIM:620369 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Hyperactivity, Small for gestational age, Short stature, Hypospadias, Aggressive b... |
OMIM:619148 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Cryptorchidism, Wide nasal bridge, Neutropenia, Abnormal repetitive mannerisms,... |
OMIM:618067 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial ne... |
ORPHA:797 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Death ... |
OMIM:609313 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Megaloblastic an... |
OMIM:277380 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Hypospadias, Multiple joint contractures, Unilateral renal agenesis, Ankle ... |
ORPHA:468631 |
Chromosome 10Q26 Deletion Syndrome |
|
Broad-based gait, Hyperactivity, Short stature, Small for gestational age, Scapular winging, Aggr... |
OMIM:609625 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Feingold Syndrome 1 |
|
Accessory spleen, Decreased fetal movement, Jejunal atresia, Anteverted nares, Polyhydramnios, As... |
OMIM:164280 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Small for gestational age, Hypospadias, Urethr... |
OMIM:107480 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ... |
ORPHA:71212 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Fetal polyuria, Hyperparathyroidism, Small for gestational age, Short stature, ... |
OMIM:601678 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Aggressive behavior, Wide nasal bridge, Obesity, Narrow palate, Gastroesophageal reflux, Short nose |
OMIM:620250 |
Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Miscarriage, Hepatic steatosis |
OMIM:613877 |
C Syndrome |
|
Hepatomegaly, Short stature, Anteverted nares, Cryptorchidism, Wide nasal bridge, Renal cortical ... |
OMIM:211750 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Hyperactivity, Torticollis, Wide nasal ridge, Prominent nose, Postnatal ... |
ORPHA:251061 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Hydrops fetal... |
ORPHA:93299 |
Van Esch-O'Driscoll Syndrome |
|
Short stature, Depressed nasal bridge, Impulsivity, Esophageal atresia, Tracheoesophageal fistula... |
OMIM:301030 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Premature birth, Polyhydramnios, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Lethal Kniest-Like Dysplasia |
|
Edema, Mesomelic/rhizomelic limb shortening, Polyhydramnios, Breech presentation, Abnormal cartil... |
ORPHA:2347 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Prominent nose, Irritability, Lymphopenia, Abn... |
ORPHA:391307 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Kleefstra Syndrome 1 |
|
Hypospadias, Anteverted nares, Protruding tongue, Aggressive behavior, Cryptorchidism, Abnormal r... |
OMIM:610253 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Intestinal malrotation, Asplenia, Nasal congestion, Chronic rhinitis, Polysplenia |
ORPHA:244 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Renal salt wasting, Cryptorchidism, Dehydration, Adrenocorticotropic hormone excess,... |
ORPHA:90791 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Anteverted nares, Short stature, Depressed nasal bridge, Small for g... |
OMIM:613320 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Generaliz... |
ORPHA:160 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Death in infancy, 4-hydroxyphenylacetic aciduria, Polyhydramnios, ... |
OMIM:617156 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Postnatal growth retardation, Inability to walk, Flexion contracture, Narr... |
OMIM:614222 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Short stature, Anteverted nares, Cachex... |
ORPHA:109 |
Baraitser-Winter Syndrome 1 |
|
Short stature, Anteverted nares, Postnatal growth retardation, Cryptorchidism, Wide nasal bridge,... |
OMIM:243310 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Premature birth, Elevated circulating luteinizing hormone level, Renal salt wasting, Abnormality ... |
ORPHA:168558 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short stature, Intestinal malrotation, Anteverted nares, Velopharyngeal insufficiency, Submucous ... |
OMIM:614701 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Ataxia, Micronodular cirrhosis, Obesi... |
ORPHA:98907 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Death in infanc... |
OMIM:300972 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s... |
ORPHA:79083 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Cryptor... |
ORPHA:412035 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Short stature, Aplasia/Hypoplasia of the tongue, Facial palsy, Anteverte... |
ORPHA:1358 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Spina bifida, Anteverted nares, ... |
ORPHA:261318 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Premature birth, Elevated circulating luteinizing hormone level, Renal salt wasting, Abnormality ... |
ORPHA:289548 |
Codas Syndrome |
|
Hydroureter, Anteverted nares, Short stature, Depressed nasal bridge, Extrahepatic biliary duct a... |
ORPHA:1458 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Gastroesop... |
ORPHA:449291 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Irritability,... |
OMIM:212138 |
Fetal Hydantoin Syndrome |
|
Thickened nuchal skin fold, Short stature, Cryptorchidism, Depressed nasal ridge, Cleft palate, I... |
ORPHA:1912 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Short stature, Wide nasal bridge, Cleft palate |
OMIM:614078 |
Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Depressed nasal ridge, Bifid uvula, Perineal fistula, Absent crus of helix, ... |
ORPHA:2753 |
Acromicric Dysplasia |
|
Bulbous nose, Severe short stature, Anteverted nares, Short nose |
ORPHA:969 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Premature birth, Edema, Splenomegaly, Jaundice, Gastroin... |
ORPHA:90051 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Cryptorchidism, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Ab... |
OMIM:618917 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Prominent nasal bridge, Broad nasal tip, Inability to walk, Bulbous nose, Abnor... |
ORPHA:411986 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Compu... |
ORPHA:199 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Pituitary adenoma, Primary hyperparathyroidism, Nephrolithiasis... |
ORPHA:189427 |
Tetrasomy 18P |
|
Achalasia, Gait disturbance, Short nose |
ORPHA:3307 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture,... |
OMIM:300868 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Wid... |
OMIM:301029 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Facial hypotonia, Diastasis recti, Supernumerary nipple, Gait ataxia, Gastroesophageal reflux, Hi... |
OMIM:616579 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Small for gestational age, Short stature, Impu... |
OMIM:610443 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Small for gestational age, Short stature, Hypospadias, Ataxia, Depressed nas... |
OMIM:300661 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Spastic gait, Dysmetria, Growth delay, Facial diplegia, Attent... |
OMIM:619121 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Short nose, Impulsivity |
OMIM:300143 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ... |
OMIM:203800 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology... |
ORPHA:1666 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Ataxia, Dysuria, Malabsorption, ... |
ORPHA:3463 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Thrombocytopenia, My... |
ORPHA:99901 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Prominent nasal bridge, Convex nasal ridge, Protruding tongue, Postnatal growth re... |
OMIM:212066 |
Peters-Plus Syndrome |
|
Ureteral duplication, Rhizomelia, Hypospadias, Polyhydramnios, Bilobate gallbladder, Postnatal gr... |
OMIM:261540 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Ketonuria, Failure to t... |
ORPHA:247598 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Mild postnatal growth retardation, Ataxia, Broad nasal tip, Abnormal temper tantru... |
ORPHA:530983 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Growth delay, Nephrotic syndrome, Glomerula... |
OMIM:619428 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Sho... |
OMIM:227646 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal omphalitis, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, Hepatomegaly... |
OMIM:612541 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Long nose, I... |
ORPHA:508533 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Renal insufficiency, Gastrointestinal he... |
ORPHA:85443 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Short stature, Postnatal gr... |
ORPHA:79240 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Hyperactivity, Restlessness, Short stature, Anteverted nares, Depressed nasal bridg... |
OMIM:252940 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Short stature, Choanal atresia, Bifid nasal tip, Depressed... |
ORPHA:1791 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Prominent nose, Long nose, Cryptorchidism, Gait ataxia, Low frustration tolerance,... |
OMIM:300486 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Abnormal repetitive mannerisms |
ORPHA:98807 |
Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Self-mut... |
ORPHA:96149 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... |
OMIM:615381 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Depression, Recurrent pancrea... |
ORPHA:444490 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Small for gestational age, Short stature, Malabsorption... |
OMIM:601675 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Hydroureter, Anteverted nares, Increased nuchal translucency, Short nose, Hypertro... |
ORPHA:280633 |
Jacobsen Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Pyloric stenosis, Cryptorchidism, Flexion ... |
OMIM:147791 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nasal tip, Hypospadias, Depressed nasal bridge, Prominent nose, Postnatal growth retard... |
ORPHA:439822 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Anteverted nares, Elevated circulating aspartate aminotr... |
OMIM:618528 |
Chops Syndrome |
|
Short stature, Anteverted nares, Splenomegaly, High, narrow palate, Cryptorchidism, Obesity, Hors... |
OMIM:616368 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... |
ORPHA:33543 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Depressed nasal bridge, Lacunar halos around chondrocytes, Cleft palate, Stillb... |
OMIM:256050 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Disproportionate short-limb ... |
OMIM:269250 |
Zttk Syndrome |
|
Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Depressed nasal bridge, B... |
OMIM:617140 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Diastasis recti, Polyhydramnios, Large for gestational age, Postnatal ... |
ORPHA:254534 |
Abetalipoproteinemia |
|
Fat malabsorption, Ataxia, Acanthocytosis |
OMIM:200100 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Inability to walk, Bulbous nose, Wide nasal bridge, Cleft palate, Gait disturbance... |
OMIM:618571 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor... |
ORPHA:537 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Nocturia, Dehydration, Rhinitis, Anemia |
ORPHA:230 |
Developmental And Epileptic Encephalopathy 64 |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Inability to walk, Self-injurious beha... |
OMIM:618004 |
White-Kernohan Syndrome |
|
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Horses... |
OMIM:619426 |
Dend Syndrome |
|
Short nose, Anteverted nares, Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Obesity, Anteriorly placed anus, Single umbilical artery, H... |
OMIM:618653 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, C... |
ORPHA:894 |
Short Stature, Brussels Type |
|
Growth delay, Short stature, Calcification of cartilage, Horseshoe kidney |
ORPHA:2867 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Gait ataxia, 3-Methylglutaconic aciduria, Delayed puberty, Short nose, Lower limb... |
ORPHA:496790 |
Lathosterolosis |
|
Elevated hepatic transaminase, Anteverted nares, Bilobate gallbladder, Increased mean platelet vo... |
OMIM:607330 |
Congenital Macroglossia |
|
Macroglossia, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly |
OMIM:618291 |
Icf Syndrome |
|
Short stature, Depressed nasal bridge, Abnormality of neutrophils, Malabsorption, Protruding tong... |
ORPHA:2268 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Unilateral cryptorchidism, Postnatal growth retardation, Flared nostrils,... |
OMIM:206920 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Self-injurious behavior, High palate, Attention deficit hyperactivity disorder, ... |
OMIM:618354 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Greenberg Dysplasia |
|
Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Depre... |
OMIM:215140 |
Hypoglossia With Situs Inversus |
|
Asplenia, Microglossia, High palate, Polysplenia |
OMIM:612776 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac... |
ORPHA:89842 |
White-Sutton Syndrome |
|
Duplicated collecting system, Abnormality of the gastrointestinal tract, Hyperactivity, Short sta... |
ORPHA:468678 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Proportionate short stature, Unilateral cr... |
OMIM:613457 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism, U... |
OMIM:616638 |
Scedosporiosis |
|
Abnormal renal morphology, Pleural empyema, Abnormal jejunum morphology |
ORPHA:449280 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Depressed nasal bridge, Postnatal growth retardation, Cryptorchidism, ... |
ORPHA:3404 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Recurrent upper respiratory tract infections, Severe postnatal growth ... |
ORPHA:3078 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cleft palate, Oligosacchariduria, High palate, Short nose |
ORPHA:163649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal... |
OMIM:613154 |
19P13.13 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Increased nuchal translucency, Functional abnormality o... |
ORPHA:357001 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Edema, Pericardial effusion, Micropenis, High palate, C... |
OMIM:617822 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Microvesicular hepatic st... |
OMIM:611126 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper re... |
OMIM:252930 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Camptodactyly, ... |
OMIM:610015 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Axial malrotatio... |
OMIM:274000 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Decreased fetal movement, Broad-based gait, Short stature, Ataxia, Anteverted nares, Broad nasal ... |
OMIM:617330 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Ragged-red ... |
OMIM:124000 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Short stature, Elbow contracture, Bulbous nose, Cleft palate, Compulsive behaviors, Atten... |
OMIM:615656 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Camptodactyly of finger, Anteverted nares, Depressed nasal bridge, Cryptorchidism,... |
ORPHA:261236 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Growth delay, Self-injurious behavior, Intrauterine growth retardation, A... |
ORPHA:238750 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Facial hypotonia, Limb jo... |
ORPHA:404454 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Abnormal repetitive mannerisms, Short nose |
ORPHA:228384 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Short stature, Choanal atresia, Esophageal atresia, Cleft palate, Short nose |
OMIM:610536 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Lymphedema, Spina bifida, Cryptorchidism, Renal transitional cell carcinoma, Un... |
ORPHA:2874 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Abnormality of the kidney, ... |
ORPHA:857 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Anteverted nares, Hypospadias, Prominent nasal bridge, Cryptorchidism, Umbilical hernia, Abnormal... |
ORPHA:500159 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Red-brown urine, Myopathy, Myoglobin... |
ORPHA:228305 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Gastroesophageal reflux, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive manneri... |
ORPHA:353281 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Prominent nose, Postnatal growth retardation,... |
OMIM:210900 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Myoglobinuria, ... |
OMIM:231530 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Thickened nuchal skin fold, Death in infancy, Ketonuria, Small for gestational age, Hypospadias, ... |
OMIM:220111 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Cartilage... |
ORPHA:829 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Polyhydramnios, Asplenia, Posteriorly placed anus, Myelomeningocele... |
OMIM:306955 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly |
OMIM:618651 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Short nose, Anteverted nares |
OMIM:618506 |
Alazami Syndrome |
|
Wide nose, Abnormal eating behavior, Postnatal growth retardation, Abnormal repetitive mannerisms... |
ORPHA:319671 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Abnormal localization of kidney, Hematuria, Delayed puberty, Intrauterine growth ... |
ORPHA:3121 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Short stature, Failure to thrive in infancy, Premature... |
ORPHA:1340 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Harel-Yoon Syndrome |
|
Inability to walk, Distal amyotrophy, Ataxia, Short nose |
OMIM:617183 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... |
ORPHA:1529 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Depressed nasal bridge, ... |
OMIM:619127 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat... |
OMIM:261680 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Depressed nasal bridge, Overweight, High, narrow palate, Head-banging, Hematochezi... |
OMIM:619575 |
Maternal Phenylketonuria |
|
Hyperactivity, Anteverted nares, Esophageal atresia, Abnormal renal morphology, Wide nasal bridge... |
ORPHA:2209 |
Trisomy 8P |
|
Multiple joint contractures, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Fetal pyel... |
ORPHA:264450 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating alanine aminotransferase concentration, Cholestasis... |
OMIM:614300 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Short stature, Anteverted nares, Broad nasal tip, Postnatal growth retarda... |
ORPHA:357074 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Polyhydramnios, Congenital diaphragmatic hernia, High,... |
ORPHA:373 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Depressed nasal bridge, Disproportionate short-trunk short stature, ... |
OMIM:156550 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Cryptorchidism,... |
OMIM:614294 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Thrombocytopenia, Flexion con... |
ORPHA:505248 |
Fg Syndrome 5 |
|
Anteverted nares, Short nose, Hypospadias, Depressed nasal bridge |
OMIM:300581 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Stickler Syndrome Type 1 |
|
Short nose, Cleft palate |
ORPHA:90653 |
Developmental And Epileptic Encephalopathy 6B |
|
Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia |
OMIM:619317 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Hiatus hernia, Urinary urgency, Urinary hesitancy, Nocturia |
OMIM:609727 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ... |
OMIM:618278 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Anal stenosis, Short stature, Hyperactivity, Rhabdomyosarcoma... |
OMIM:251260 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Severe short stature, Depressed nasal bridge, Obesity, Growth delay, Concave nasal... |
OMIM:251450 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Polyhydramnios, Supernumerary nipple, Cryptorchidism... |
ORPHA:1812 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Short stature, Hypospadias, Unilateral renal agenesis, Aggressive b... |
ORPHA:96121 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, ... |
OMIM:618504 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Anteverted nares, Head-banging |
OMIM:619356 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Short statu... |
ORPHA:98908 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
OMIM:618606 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Short nose, High palate, Camptodactyly |
OMIM:615539 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Intestinal malrotation, Polyhydramnios, Gastrointestinal atresia, He... |
ORPHA:436252 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... |
OMIM:610217 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Short... |
ORPHA:93259 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft palate, Short columella, I... |
ORPHA:364577 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Gastroin... |
OMIM:229600 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Anteverted nares, Inability to walk, Bulbous nose, Short nose, Failure t... |
OMIM:616420 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Recurrent upper respiratory tract infections,... |
ORPHA:51636 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Low hanging columella, Wide nasal bridge... |
OMIM:615803 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Short stature, Congenital diaphragmatic hernia, Cleft palate, Intrauterine grow... |
ORPHA:1915 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protruding to... |
OMIM:200600 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Skeletal myopathy,... |
ORPHA:746 |
Tetrasomy 5P |
|
Anteverted nares, Postnatal growth retardation, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:3309 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
20Q11.2 Microduplication Syndrome |
|
Palpebral edema, Anteverted nares, Depressed nasal bridge, Periorbital edema, Cryptorchidism, Wid... |
ORPHA:363659 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Short stature, Congenital diaphragmatic hernia |
OMIM:300887 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, High palate, Intrauterine growth retardation, Short nose, Failure to thrive |
OMIM:219200 |
Ohdo Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Proteinuria, Cryptorchidism, Wide nasal ... |
OMIM:249620 |
Zygomycosis |
|
Periorbital edema, Unusual gastrointestinal infection, Colitis, Neutropenia, Nephritis, Premature... |
ORPHA:73263 |
Rett Syndrome, Congenital Variant |
|
Depressed nasal bridge, Bulbous nose, Tongue thrusting, Irritability, Athetosis, Gastroesophageal... |
OMIM:613454 |
Poland Syndrome |
|
Duplicated collecting system, Encephalocele, Hypospadias, Congenital diaphragmatic hernia, Renal ... |
ORPHA:2911 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Cryptorchidism, Xerostomia, Renal hypoplasia, Anosmia, Bifid uvula, Dysphagia, V... |
ORPHA:2363 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Short stature, Anteverted nares, Aggressive behavior, High, narrow palate, B... |
OMIM:601358 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Attention deficit... |
OMIM:620073 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Anteverted nares, Short stature, Short nose |
ORPHA:2701 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Myopathy, Ataxia |
OMIM:275630 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Increased nuchal tran... |
ORPHA:79345 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Disproportionate short stature, Meningo... |
ORPHA:2879 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abn... |
ORPHA:760 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Short stature, Depressed nasal bridge, Inappropriate laughter, Failure t... |
OMIM:615802 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, High palate, Gastroesophageal reflux, Compulsive behaviors, Vesicoureteral reflux... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, High palate, Gastroesophageal reflux, Compulsive behaviors, Vesicoureteral reflux... |
ORPHA:353277 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Gapo Syndrome |
|
Hepatomegaly, Anteverted nares, Facial palsy, Depressed nasal bridge, High, narrow palate, Growth... |
OMIM:230740 |
Meier-Gorlin Syndrome 6 |
|
Severe short stature, Small for gestational age, Anteverted nares, Depressed nasal bridge, Underd... |
OMIM:616835 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased fetal movement, Decreased muscle mass, Short stature, Small for gesta... |
OMIM:194190 |
Pitt-Hopkins Syndrome |
|
Fetal nuchal edema, Supernumerary nipple, Cryptorchidism, Flared nostrils, Wide nasal bridge, Gai... |
OMIM:610954 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, High palate, Pelvic kidney, Abnormal repetit... |
OMIM:619522 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, High, narrow palate, Flexion contracture, Anteriorly placed anus, Abnormal o... |
ORPHA:95699 |
14Q22Q23 Microdeletion Syndrome |
|
Decreased fetal movement, Short stature, Anterior pituitary hypoplasia, Underdeveloped nasal alae... |
ORPHA:264200 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Spontaneous chorioamniotic separation, Decreased fetal movement, Hypospadia... |
OMIM:275210 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Anteverted nares, Depressed nasal bridge, Hydrops fetalis, Cleft palate, Stillbirth, ... |
OMIM:228520 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Ataxia, Urinary incontinence, Polyhydramnios, Growth... |
ORPHA:496641 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia, Spinal dysraphism |
OMIM:612918 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Failure to th... |
OMIM:210200 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Short stature, High palate, Short nose, Spina bifida occulta |
OMIM:617877 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
Joubert Syndrome 6 |
|
Ataxia, Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthis... |
OMIM:610688 |
Brucellosis |
|
Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Hepatomegaly, Premature birth, Leu... |
ORPHA:1304 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Ureteral stenosis, Hypospadias, Hydroureter, Anteverted nares, D... |
OMIM:269150 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Decreased liver function, Prolonged neonatal jaundice, Short... |
OMIM:618437 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Encephalocele, Pancreatic f... |
ORPHA:564 |
Raine Syndrome |
|
Death in infancy, Hydroureter, Short stature, Depressed nasal bridge, Choanal atresia, Protruding... |
OMIM:259775 |
Non-Distal Duplication 13Q |
|
Cryptorchidism, Short nose, High palate |
ORPHA:1702 |
Atelosteogenesis, Type I |
|
Encephalocele, Rhizomelia, Premature birth, Polyhydramnios, Depressed nasal bridge, Cryptorchidis... |
OMIM:108720 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Flexion contracture, Loss of ambulation, Thick nasal alae, Hepatomegaly, Hyperactivi... |
ORPHA:581 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Narrow nasal ridge, Flexion contracture, Stage 5 chronic kidney disease... |
OMIM:608612 |
Rett Syndrome |
|
Skeletal muscle atrophy, Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Diffic... |
ORPHA:778 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Wide nasal ... |
OMIM:300749 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Short stature, Hypospadias, Choanal atresia, Cryptorchidism, C... |
OMIM:617063 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Lethargy |
OMIM:600649 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... |
OMIM:207800 |
Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Broad-based gait, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death i... |
OMIM:616457 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal... |
ORPHA:397715 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ureteral stenosis, Short stature, Ataxia, Anteverted nares, Depressed nasal bridge, Cryptorchidis... |
ORPHA:2719 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Gliosis |
OMIM:619847 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Compulsive behaviors, Loss of ambulation, Muscle fiber atrophy, Hepatome... |
ORPHA:2388 |
C Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Short stature, Failure to thrive in infancy, Poly... |
ORPHA:1308 |
Distal Duplication 17Q |
|
Accessory spleen, Hyperactivity, Severe short stature, Rhizomelia, Short stature, Depressed nasal... |
ORPHA:3379 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscul... |
OMIM:608594 |
Peters Plus Syndrome |
|
Ureteral duplication, Polyhydramnios, Spina bifida occulta, Renal duplication, Intestinal fistula... |
ORPHA:709 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Cenani-Lenz Syndrome |
|
Renal hypoplasia/aplasia, High, narrow palate, Crossed fused renal ectopia, Convex nasal ridge, S... |
ORPHA:3258 |
Kaufman Oculocerebrofacial Syndrome |
|
Anteverted nares, Short stature, Intestinal malrotation, Depressed nasal bridge, High palate, Sho... |
OMIM:244450 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Anteverted nares, Bruxism, Abnormal repetitive mannerisms, Oligohydramnios |
OMIM:616351 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Cleft palate, Anteriorly p... |
OMIM:217980 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Progressive flexion contractures, Repetitive compulsive behavior, Self-biting, Choreoathe... |
ORPHA:522077 |
Schinzel-Giedion Syndrome |
|
Renal cyst, Anteriorly placed anus, High palate, Choanal stenosis, Hepatoblastoma, Micropenis, My... |
ORPHA:798 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Short stature, Edema, Underdeveloped nasal alae, Splenomegaly, Growth del... |
OMIM:604173 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
Plaa-Associated Neurodevelopmental Disorder |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Contractures of the large joints, High... |
ORPHA:521426 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Aggressive behavior, H... |
OMIM:309800 |
Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Cryptorchidism, Short nose |
ORPHA:93328 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Large for gestational age, Flexion contracture, Hepatoblastoma, Hepatomegaly, Sho... |
ORPHA:96334 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Depressed nasal bridge, Urinary incontinence, Hair-pu... |
ORPHA:447997 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Short stature, Anteverted nares, Low hanging columella, Short nose, Elbow flexi... |
OMIM:601559 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Prominent nasal tip, Nail-biting, Broad-based gait, Aggressive behavior, Broad nasal tip, Hair-pu... |
OMIM:620330 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palat... |
ORPHA:1790 |
Odontochondrodysplasia |
|
Death in infancy, Depressed nasal bridge, Short stature, Short nose |
ORPHA:166272 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation, Gliosis |
OMIM:607485 |
Edinburgh Malformation Syndrome |
|
Short nose, Failure to thrive, Anteverted nares, Choanal atresia |
ORPHA:1895 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Proportionate short stature, Renal cyst, Self-i... |
ORPHA:488618 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Prominent nasal bridge |
OMIM:619877 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Edema, Contractures of the large joints, High palate, Dysphagia, Short nose, Failure to thrive, H... |
OMIM:617527 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short stature, Cleft soft palate, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Cleft... |
OMIM:616331 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Abnormal repetitive mannerisms, Ataxia, Gait ataxia |
OMIM:619092 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Cirrhosis, Polycystic ovaries |
OMIM:604367 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Flexion contracture, Irritability, Short nose, Failure to thrive |
OMIM:615851 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, 5-minute A... |
ORPHA:141127 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta, Short stature |
ORPHA:1514 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Anteverted nares, Short stature, Cryptorchidism, Increased nu... |
ORPHA:93329 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose, Death in childhood |
OMIM:618961 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Choanal atresia, Congenital diaphragmatic hernia, Asplenia, Single naris, Cleft p... |
OMIM:273395 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short stature, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Cleft... |
OMIM:616894 |
Peho Syndrome |
|
Short nose, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands |
OMIM:260565 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Narrow nasal ridge, Splenomegaly, Pancreatitis, Proximal upper limb muscle hypertro... |
ORPHA:280365 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
OMIM:617044 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Short stature, Cachexia |
ORPHA:1389 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Congenital diaphragmatic h... |
OMIM:613406 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... |
ORPHA:168491 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Colchicine Poisoning |
|
Leukocytosis, Renal insufficiency, Oliguria, Dehydration |
ORPHA:31824 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Bulbous nose, Unsteady gait, ... |
OMIM:616682 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardati... |
ORPHA:163966 |
Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Hypospadias, Short stature, Facial palsy, Prominent nasal bridge, ... |
OMIM:619325 |
Bartsocas-Papas Syndrome |
|
Short nose, Underdeveloped nasal alae, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:1234 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Exagge... |
OMIM:312870 |
Toluene Embryopathy |
|
Short stature, Cryptorchidism, Abnormal localization of kidney, Short nose, Hydronephrosis |
ORPHA:1920 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Polyhydramnios, Wide nasal bridge, Hydrocele testis, Short columella, Shor... |
OMIM:613603 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Irritability, Hepatic st... |
ORPHA:348 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short nose, Short stature, Cleft palate |
ORPHA:79113 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchid... |
OMIM:618820 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... |
OMIM:612394 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Premature birth, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Sho... |
ORPHA:1786 |
Acrocallosal Syndrome |
|
Hypospadias, Protruding tongue, Postnatal growth retardation, Cryptorchidism, Short nose, Wide na... |
OMIM:200990 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Anteverted nares, Camptodact... |
ORPHA:1507 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic s... |
ORPHA:435651 |
Megalocornea-Intellectual Disability Syndrome |
|
Short stature, Ataxia, Wide nasal bridge, High palate, Abnormal repetitive mannerisms |
ORPHA:2479 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Growth delay, Increased u... |
OMIM:252160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Hyperactivity, Small for gestational age, Short stature, Hypospadias, De... |
OMIM:309590 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Short nose, Limb hypertonia |
OMIM:618087 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... |
OMIM:259900 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Short nose, Failure to thrive |
ORPHA:561 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Elevated circulating aspartate aminotransferase concent... |
OMIM:617253 |
Fontaine Progeroid Syndrome |
|
High, narrow palate, Hypoplasia of the abdominal wall musculature, Anteriorly placed anus, Gastro... |
OMIM:612289 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Facial hypotonia, Gait ataxia, Difficulty walking, Abnormal repetitive mannerisms |
OMIM:617807 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Congenital fibrosis... |
ORPHA:300570 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Hip contracture, Cartilage destruction, Hematuria, Joint swelling, I... |
ORPHA:169805 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, High palate, Short stature, Intestinal malrotation |
OMIM:619657 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Depressed nasal bridge, Inability to walk, Dysmetria, Gait ataxia, Choreoatheto... |
OMIM:617988 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Anosmia, Short nose, Short nasal septum |
OMIM:302950 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Proximal muscle weakness in upper limbs, Polycystic ovaries, Skeletal muscle hypert... |
ORPHA:435660 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Intestinal malrotation, Prominent nasal bridge, Broad nasal t... |
OMIM:616268 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Ventriculomegaly |
ORPHA:1855 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Diastasis recti, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic s... |
OMIM:601776 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Short stature, Cleft soft palate, Broad nasal tip, Wide nasal bridge, Camptodac... |
OMIM:618529 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Large for gestational age, Depressed nasal ridge, Gonadotropin deficiency, Microp... |
ORPHA:672 |
Toriello-Carey Syndrome |
|
Short stature, Aganglionic megacolon, Postnatal growth retardation, Cryptorchidism, Cleft palate,... |
ORPHA:3338 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardation, Short nose |
OMIM:300863 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Short stature, Miscarriage, Renal salt wasting, Long penis, Testicular adrenal rest tumor, Dehydr... |
ORPHA:90794 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... |
ORPHA:2847 |
Marshall-Smith Syndrome |
|
Short stature, Choanal atresia, Anteverted nares, Depressed nasal bridge, Bilateral cryptorchidis... |
OMIM:602535 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Cachexia, Abnormality of the sp... |
ORPHA:2072 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Ataxia, Ac... |
OMIM:203700 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia |
OMIM:605376 |
Cadds |
|
Elevated hepatic transaminase, Cholangitis, Cholestasis, Intrauterine growth retardation, Short nose |
ORPHA:369942 |
Al-Raqad Syndrome |
|
Inability to walk, Short nose, Gait ataxia |
OMIM:616459 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Proteinuria, Polycystic ovaries,... |
ORPHA:79086 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormal cartilage morphology, Disproportionate short-trunk short stature, Cleft palate, Joint sw... |
ORPHA:93284 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Palpebral edema, Polyhydramnios, Fetal pyelectasis, Short nose, Failure to th... |
ORPHA:50810 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Wide nose, Rhizomelia, Short nose |
ORPHA:2831 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Depressed nasal bridge, Aggressive behavior, Obesity, Cleft palate, Hepatosplenomeg... |
OMIM:301066 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Short stature, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Und... |
OMIM:616007 |
Kniest Dysplasia |
|
Depressed nasal bridge, Disproportionate short stature, Disproportionate short-trunk short statur... |
ORPHA:485 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Short stature, Palpebral edema, Ataxia, Hiatus hernia, Aggressiv... |
OMIM:614756 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Camptodactyly of finger, Abnormal renal morphology, Cleft pala... |
ORPHA:83 |
Acrodysostosis |
|
Anteverted nares, Short stature, Depressed nasal bridge, Cryptorchidism, Depressed nasal ridge, W... |
ORPHA:950 |
Distal Deletion 9P |
|
Hypospadias, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose |
ORPHA:1642 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Abnormal emotion, Urinary incontinence |
ORPHA:168782 |
Opsismodysplasia |
|
Hepatomegaly, Severe short stature, Depressed nasal bridge, Splenomegaly, Short nose |
ORPHA:2746 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Decreased muscle mass, Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Pho... |
OMIM:234200 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Ataxia, Camptodactyly of finger, Anteverted nares, Abnor... |
ORPHA:2710 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contract... |
ORPHA:2152 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hyperactivity, Wide nose, Short stature, Impulsivity, Aggressive behavior, Splenome... |
ORPHA:580 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... |
OMIM:617600 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Flexion contracture, Microp... |
OMIM:614225 |
Marshall Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Wide nasal bridge, Cleft palate, High pa... |
ORPHA:560 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglott... |
OMIM:615948 |
Leprechaunism |
|
Hepatomegaly, Skeletal muscle atrophy, Wide nose, Enlarged ovaries, Postnatal growth retardation,... |
ORPHA:508 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Obesity, Short nose |
OMIM:611936 |
Distal Duplication 5Q |
|
Short stature, Prominent nasal bridge, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the gal... |
ORPHA:96097 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Cimdag Syndrome |
|
Death in early adulthood, Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Cholelithiasis |
OMIM:619273 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short stature, Polyhydramnios, Cleft palate, Short nose |
ORPHA:1394 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Camptodactyly of finger, Depressed nasal bridge, Ureteral obstruction... |
ORPHA:90652 |
Bartsocas-Papas Syndrome 1 |
|
Decreased fetal movement, Anal stenosis, Ectopic kidney, Underdeveloped nasal alae, Bilateral cry... |
OMIM:263650 |
Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Short stature, Anteverted nares, Wide nasal bridge, Hydrocele testis, Sin... |
OMIM:145420 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Depressed nasal bridge, Aggressive behavior, Hair-pulling, Self-injurious behavior, Vento... |
OMIM:616393 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, G... |
ORPHA:79408 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... |
OMIM:618329 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... |
ORPHA:3455 |
Multiple Osteochondromas |
|
Intestinal obstruction, Short stature, Abnormal cartilage morphology, Cervical myelopathy, Urinar... |
ORPHA:321 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Disproportionate short-limb short stature |
OMIM:618618 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short stature, Cleft soft palate, Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridg... |
ORPHA:2282 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Anal stenosis, Wide nose, Prominent nasal bridge, ... |
OMIM:606170 |
Opsismodysplasia |
|
Rhizomelia, Anteverted nares, Polyhydramnios, Edema, Depressed nasal bridge, Renal phosphate wast... |
OMIM:258480 |
Atypical Werner Syndrome |
|
Abnormality of the Achilles tendon, Renal neoplasm, Skeletal muscle atrophy, Short stature, Conve... |
ORPHA:79474 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Inability to walk, Self-injurious b... |
ORPHA:457351 |
Osteoglophonic Dysplasia |
|
Severe short stature, Rhizomelia, Hypospadias, Camptodactyly of finger, Anteverted nares, Depress... |
OMIM:166250 |
Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Acute myeloid leukemia, Pancytopenia, Short stature, Hypospadias, Atax... |
OMIM:305000 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Renal age... |
OMIM:192350 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms, Gastroesophageal reflux, Anteverted nares |
OMIM:300672 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Anteverted nares, Phimosis, Broad nasal tip, Cryptorchidism, Cleft pal... |
ORPHA:363611 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Hyperactivity, Palpebral edema, Lymphedema, Hair-pulling, Bulbous nose, Obesity,... |
ORPHA:48652 |
Otopalatodigital Syndrome, Type I |
|
Short nose, Short stature, Wide nasal bridge, Cleft palate |
OMIM:311300 |
Aymé-Gripp Syndrome |
|
Short stature, Proteinuria, Congenital diaphragmatic hernia, Depressed nasal bridge, Postnatal gr... |
ORPHA:1272 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Asplenia, Cleft hard palate, Flexion contracture, Vesicoureteral reflux, We... |
ORPHA:261537 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Short nose, Nephrolithia... |
OMIM:268310 |
Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Short stature, Depressed nasal bridge, Cryptorchidism, Anteriorly plac... |
OMIM:268400 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Narrow nasal ridge, Cryptorchidism, Fetal pyelectasis, Bulbous nose, Self-injuriou... |
OMIM:619512 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Short stature, Anteverted nares, Depress... |
ORPHA:97360 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Abnormal cartilage matrix |
OMIM:245650 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Congenital diaphragmatic hernia, Narrow nose, Cleft palate, Gr... |
OMIM:301044 |
Developmental And Epileptic Encephalopathy 100 |
|
Decreased fetal movement, Depressed nasal bridge, Protruding tongue, Broad nasal tip, Bilateral c... |
OMIM:619777 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Choanal stenosis, High palate, Short nose |
OMIM:101600 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Severe short stature, Pyloric stenosis, Pyelonephritis, Ureth... |
ORPHA:90349 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Polyhydramnios, Facial edema, Abnormal cartilage matrix, Intrauterine growth retardation, Arthrog... |
ORPHA:86822 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Aspartylglucosaminuria |
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Hepatomegaly, Aspartylglucosaminuria, Malabsorption, Splenomegaly, Wide nasal bridge, Macroglossi... |
ORPHA:93 |
Nablus Mask-Like Facial Syndrome |
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Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, High palate, Hypopla... |
OMIM:608156 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Ataxia, Bradykinesia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, M... |
OMIM:619725 |
Difference Of Sex Development-Intellectual Disability Syndrome |
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Hypoplasia of penis, Spina bifida occulta, Short nose |
ORPHA:2983 |
Tuberous Sclerosis Complex |
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Renal cyst, Pheochromocytoma, Hyperactivity, Abnormality of the kidney, Repetitive compulsive beh... |
ORPHA:805 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Desmosterolosis |
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Failure to thrive, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Cleft palate, Arthrogr... |
OMIM:602398 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
Lipodystrophy, Familial Partial, Type 7 |
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Small for gestational age, Polyuria, Narrow nasal ridge, Dysmetria, Gait ataxia, Dysdiadochokines... |
OMIM:606721 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Failure to thrive in infancy, Depressed nasal bridge, Unilateral renal agenes... |
ORPHA:500150 |
Paroxysmal Nocturnal Hemoglobinuria |
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Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy,... |
ORPHA:447 |
Oculodentodigital Dysplasia |
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Narrow nasal bridge, Neurogenic bladder, Ataxia, Anteverted nares, Underdeveloped nasal alae, Cle... |
OMIM:164200 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Lateral ventricle dilatation |
ORPHA:565624 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Anteverted nares, Short nose, High palate, Depressed nasal bridge |
ORPHA:314655 |
Keutel Syndrome |
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Wide nose, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Calcification of car... |
ORPHA:85202 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Anteverted nares, Spina bifida occulta, Short stature, Short nose |
ORPHA:1185 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Short nose, Unsteady gait, Ataxia |
OMIM:256600 |
Marshall Syndrome |
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Anteverted nares, Short stature, Depressed nasal bridge, Hypoplastic nasal bone, Cleft palate, Sh... |
OMIM:154780 |
Congenital Disorder Of Glycosylation, Type Iig |
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Lateral ventricle dilatation |
OMIM:611209 |
Lipodystrophy, Familial Partial, Type 5 |
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Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Renal neoplasm, Torticollis, Multiple joint contractures, Anteverted nares, Depressed nasal bridg... |
ORPHA:536467 |
Pseudoaminopterin Syndrome |
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Posterolateral diaphragmatic hernia, Short stature, Prominent nasal bridge, Asplenia, Cryptorchid... |
ORPHA:221120 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:544488 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
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Long nose, Depressed nasal bridge, High palate, Short nose |
OMIM:618590 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Urinary incontinence, Asplenia, Cleft hard palate, Flexion contracture, Vesicoureteral reflux, We... |
ORPHA:261552 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
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Depressed nasal bridge, Short stature, Short nose |
ORPHA:2835 |
Blomstrand Lethal Chondrodysplasia |
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Rhizomelia, Premature birth, Polyhydramnios, Protruding tongue, Anteverted nares, Depressed nasal... |
ORPHA:50945 |
Autosomal Dominant Robinow Syndrome |
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Abnormal penis morphology, Hypoplasia of penis, Severe short stature, Short stature, Hypospadias,... |
ORPHA:3107 |
Dysbetalipoproteinemia |
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Hepatomegaly, Acute pancreatitis, Tendon xanthomatosis, Renal steatosis, Obesity, Hepatic steatosis |
ORPHA:412 |
Coffin-Lowry Syndrome |
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Wide nose, Short stature, Anteverted nares, Rectal prolapse, Narrow palate, Thick nasal septum, H... |
OMIM:303600 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Anteverted nares, Short stature, Depressed nasal bridge, Wide nasal bridge, Short nose, Failure t... |
OMIM:616430 |
Holoprosencephaly 13, X-Linked |
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Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly |
OMIM:301043 |
Ring Chromosome 7 Syndrome |
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Short stature, Hypospadias, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wi... |
ORPHA:1449 |
Peho Syndrome |
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Palpebral edema, Anteverted nares, Flexion contracture, Pedal edema, Peripheral edema, Arthrogryp... |
ORPHA:2836 |
Cardiofacioneurodevelopmental Syndrome |
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Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Camptodactyly |
OMIM:619123 |
Cerebrooculonasal Syndrome |
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Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Postnatal growth retardation,... |
OMIM:605627 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Asplenia |
OMIM:618948 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
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Depressed nasal bridge, Cryptorchidism, Cleft palate, Growth delay, Camptodactyly, Short nose, Br... |
OMIM:601353 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder, D... |
ORPHA:98784 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Abnormal nostril morphology, Hypoplasia of penis, Anosmia, Short nose |
ORPHA:1295 |
Arterial Tortuosity Syndrome |
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Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Esophagitis, Short nose, Median cleft l... |
ORPHA:3342 |
Noonan Syndrome 3 |
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Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Short stature, Anteverted nares, Poly... |
OMIM:609942 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Peroxisome Biogenesis Disorder 4B |
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Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Ureterocele, Short nose |
OMIM:614863 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Anteverted nares, Depressed nasal bridge, Repetitive compulsive behavior, Cleft... |
ORPHA:513456 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Postnatal growth retardation, Abnormal repetitive mannerisms |
ORPHA:529965 |
Laterality Defects, Autosomal Dominant |
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Asplenia |
OMIM:601086 |
Reactive Arthritis |
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Recurrent urinary tract infections, Cartilage destruction, Weight loss, Joint swelling, Inflammat... |
ORPHA:29207 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Anteverted nares, Prominent nasal bridge, Proportionate short stature, Cryptorchidism, Narrow pal... |
OMIM:227330 |
Pilarowski-Bjornsson Syndrome |
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Postnatal growth retardation, Abnormal repetitive mannerisms |
OMIM:617682 |
Monosomy 9Q22.3 |
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Hyperactivity, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Umbilical hernia, Ne... |
ORPHA:77301 |
Tracheobronchopathia Osteochondroplastica |
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Esophagitis, Calcification of cartilage |
ORPHA:3348 |
Chromosome 16P13.3 Duplication Syndrome |
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Wide nose, Facial hypotonia, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Bulbous no... |
OMIM:613458 |
Microphthalmia, Syndromic 6 |
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Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Microglossia, Failure to thrive, Ant... |
OMIM:607932 |
Pfeiffer Syndrome Type 1 |
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Depressed nasal bridge, High palate, Short nose |
ORPHA:93258 |
Cog5-Cdg |
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Lateral ventricle dilatation |
ORPHA:263487 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:614866 |
Noonan Syndrome 14 |
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Lateral ventricle dilatation |
OMIM:619745 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Short stature, Hypospadias, Anteverted nares, Decreased response to growth hormone stimulation te... |
ORPHA:444077 |
Pmm2-Cdg |
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Multiple joint contractures, Lymphedema, Prominent nose, Hepatic fibrosis, High palate, Aplasia o... |
ORPHA:79318 |
Premature Aging Syndrome, Penttinen Type |
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Aplasia of the nasal bone, Flexion contracture of finger, Prominent nasal bridge, Narrow nose, Co... |
OMIM:601812 |
Fibrochondrogenesis 2 |
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Short nose, Anteverted nares |
OMIM:614524 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
ORPHA:464738 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Lateral ventricle dilatation |
ORPHA:2148 |
Ciliary Dyskinesia, Primary, 1 |
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Nasal polyposis, Asplenia, Absent outer dynein arms, Anosmia, Chronic rhinitis |
OMIM:244400 |
Aicardi Syndrome |
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Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil... |
OMIM:304050 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Robinow Syndrome, Autosomal Dominant 1 |
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Rhizomelia, Short stature, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal b... |
OMIM:180700 |
Autosomal Dominant Cutis Laxa |
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Unilateral renal agenesis, Postnatal growth retardation, Pyelonephritis, Bladder diverticulum, Sm... |
ORPHA:90348 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Viss Syndrome |
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Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro... |
OMIM:619472 |
Spondylocarpotarsal Synostosis Syndrome |
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Scapular winging, Anteverted nares, Broad nasal tip, Disproportionate short-trunk short stature, ... |
OMIM:272460 |
Monosomy 9P |
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Hypospadias, Anteverted nares, Congenital diaphragmatic hernia, Depressed nasal bridge, Choanal a... |
ORPHA:261112 |
Mosaic Trisomy 1 |
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Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Cleft ... |
OMIM:610828 |
Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Agenesis of pineal gland, Multiple joint contractures, Short stature, Anteverted nares, Depressed... |
ORPHA:536471 |
Weaver Syndrome |
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Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
Aromatase Deficiency |
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Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Obe... |
ORPHA:91 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Premature rupture of membranes, Depressed nasal bridge, Short stature, Short nose |
OMIM:616723 |
Femoral-Facial Syndrome |
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Renal agenesis, Short stature, Abnormal renal collecting system morphology, Underdeveloped nasal ... |
OMIM:134780 |
Mietens Syndrome |
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Wide nose, Severe short stature, Wide nasal bridge, Short nose |
ORPHA:2557 |
Pallister-Killian Syndrome |
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Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture... |
OMIM:601803 |
Temtamy Preaxial Brachydactyly Syndrome |
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Growth delay, Short nose, Short stature |
ORPHA:363417 |
Alkaptonuria |
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Abnormality of the nose, Cartilage destruction, Nephrolithiasis, Joint swelling, Aminoaciduria, C... |
ORPHA:56 |
Trichothiodystrophy 4, Nonphotosensitive |
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Growth delay, Short nose, Anteverted nares |
OMIM:234050 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Depressed nasal bridge, Short stature, Disproportionate short-trunk short stature, Increased size... |
ORPHA:457395 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Broad nasal tip, Obesity, Self-injurious behavior,... |
ORPHA:293948 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture,... |
OMIM:259050 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Impulsivity, Chronic kidney disease, Growth delay, Aplasia of the swe... |
ORPHA:642 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Skeletal muscle hypertrophy, Increased intr... |
OMIM:151660 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly |
OMIM:620083 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Short stature, Anteverted nares, Cachexia, Depressed nasal bridge, Short... |
ORPHA:828 |
Malan Syndrome |
|
Short nose |
OMIM:614753 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal repetitive mannerisms |
ORPHA:79155 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Hypospadias, Cryptorchidism, Wide nasal bridge, Horseshoe kidney, Knee flexion contr... |
OMIM:609945 |
Down Syndrome |
|
Thickened nuchal skin fold, Prenatal double bubble sign, Short stature, Aganglionic megacolon, Pr... |
OMIM:190685 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Short stature, Prominent nasal bridge, High palate, Short nose |
ORPHA:1974 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation |
ORPHA:2822 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Aggressive behavi... |
OMIM:309000 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Elbow flexion contracture, Depressed nasal ridge, Knee flexion contractur... |
OMIM:271665 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Short nose, Tip-toe gait, Short stature |
OMIM:614185 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Short stature, Delayed puberty, Short nose, Convex nasal ridge |
ORPHA:90154 |
Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation |
OMIM:617557 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptor... |
OMIM:618332 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619479 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Short stature, Camptodactyly of finger, Anteverted nares, Short nose, Joint contrac... |
OMIM:231050 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Anteverted nares, Rhizomelia, Depressed nasal bridge, Bulbous nose, Disproportionate short-limb s... |
OMIM:271510 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Elevated hepatic transaminase, Short nose, Epistaxis |
OMIM:277450 |
Familial Calcium Pyrophosphate Deposition |
|
Joint swelling, Calcification of cartilage |
ORPHA:1416 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Wide nose, Small for gestational age, Rhizomelia, Hypospadias, Antever... |
ORPHA:93357 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Prominent nose, Bulbous nose, T... |
OMIM:612474 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly |
ORPHA:477993 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Aplasia/Hypoplastia of the eccr... |
OMIM:305100 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal oligodendroglia morphology |
ORPHA:217260 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor... |
OMIM:229400 |
6Q Terminal Deletion Syndrome |
|
Colpocephaly |
ORPHA:75857 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Shor... |
ORPHA:1519 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation |
OMIM:618367 |
Acromesomelic Dysplasia 1 |
|
Short nose, Disproportionate short stature |
OMIM:602875 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
Omodysplasia 1 |
|
Depressed nasal bridge, Rhizomelia, Cryptorchidism, Wide nasal bridge, Disproportionate short-lim... |
OMIM:258315 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hypersexuality, Depression, Choreoathetosis, Agitation,... |
ORPHA:217253 |
Ayme-Gripp Syndrome |
|
Depressed nasal bridge, Short stature, Wide nasal bridge, Camptodactyly, Short nose |
OMIM:601088 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology |
ORPHA:2396 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Norrie Disease |
|
Narrow nasal bridge, Cachexia, Cryptorchidism, Irritability, Self-injurious behavior, Attention d... |
ORPHA:649 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:607872 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis, Myocard... |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation |
OMIM:619534 |