| Saccharopinuria |
|
Citrullinuria, Short stature, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic dipleg... |
ORPHA:3124 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Aminoaciduria |
ORPHA:417 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Failure to thrive |
OMIM:230350 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
| Saccharopinuria |
|
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... |
OMIM:268700 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level,... |
OMIM:229100 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic gait, Hyperammonemia, D... |
OMIM:238970 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... |
ORPHA:1200 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypotonia, Hyperammonemia, Abnormal circulating leucine concentrati... |
ORPHA:6 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Neutropenia,... |
ORPHA:289916 |
| Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
| Sonoda Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Narrow mouth |
OMIM:270460 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria |
ORPHA:33574 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Postnatal growth retardation, Tremor, Rigidity, C... |
ORPHA:391417 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypotonia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia |
ORPHA:147 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria, Severe short stature |
ORPHA:2278 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic acidemia, Short stature, Chorea, Hypotonia, Methylmalonic aciduria, Hyperhomocystin... |
OMIM:309541 |
| Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
| Hyperprolinemia, Type I |
|
Ataxia, Hyperglycinuria, Hyperprolinemia, Hypotonia, Prolinuria, Generalized hypotonia, Hydroxypr... |
OMIM:239500 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hypotonia, Hyperammon... |
OMIM:246450 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Cardiomegaly, Hypotonia, Hyperammonemia, Dystonia, ... |
OMIM:614702 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Splenomegaly, Hypotonia, Hyperammo... |
ORPHA:79312 |
| Threoninemia |
|
Growth delay, Hyperthreoninuria |
OMIM:273770 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
| Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Argininemia |
|
Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia, Hyperammonemia |
ORPHA:90 |
| Developmental And Epileptic Encephalopathy 82 |
|
Short stature, Spastic tetraplegia, Hyperammonemia, Spastic paraparesis, Neonatal hypotonia, Decr... |
OMIM:618721 |
| Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Failure to thrive |
OMIM:237400 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay |
OMIM:247950 |
| Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria,... |
OMIM:604273 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... |
OMIM:615158 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Death in infancy, Hyperammonemia, Opisthotonus, Neonatal hypotonia, Intrauterine gr... |
OMIM:610678 |
| Camptodactyly 1 |
|
Increased urinary taurine, Camptodactyly of finger |
OMIM:114200 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Hyperlysinemia, Type I |
|
Hyperlysinuria, Anemia |
OMIM:238700 |
| Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate |
ORPHA:2015 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Hypospadias, Small for gestational age, Ataxia, Tremor, Cryptorchidism, Hypotoni... |
OMIM:614052 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Axial hypotonia, Cachexia, Hypotonia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopat... |
OMIM:612075 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hypotonia, Hyperammonemia, Failure to thrive, Anemia |
ORPHA:28 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature, Osteoporosis |
OMIM:204730 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypotonia, Hyperammonemia, 3-Methylglutaconic aciduria, Abnormality of extrapyramidal motor funct... |
OMIM:614739 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Generali... |
OMIM:264070 |
| Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, High p... |
ORPHA:261120 |
| Lipoyltransferase 1 Deficiency |
|
Death in infancy, Axial hypotonia, Spastic tetraparesis, Hyperglutaminemia, Lacticaciduria, Hyper... |
OMIM:616299 |
| Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Hypospadias, Abnormality of the kidney, Cryptorchidism, Hypotonia... |
ORPHA:1194 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Axial hypotonia, Spastic tetraplegia, Hyperammonemia, Hypotonia, Growth delay, ... |
OMIM:611719 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated circulating branched ch... |
ORPHA:2394 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Choreoathetosis, Gene... |
OMIM:618416 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
| Stimmler Syndrome |
|
Intrauterine growth retardation, Aminoaciduria, Short stature |
ORPHA:3199 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Abno... |
ORPHA:83473 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Axial hypotonia, Short stature, Increased level of hippuric acid in u... |
OMIM:606054 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Death in infancy, Generalized dystonia, Ataxia, Elevated circulating creatine k... |
OMIM:272300 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Spastic tetraparesis, Chorea, Low plasma citrulline, Hyperammonemia, Hemiballismus, Death in chil... |
OMIM:618567 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent respiratory infections |
OMIM:615615 |
| Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Hypo... |
ORPHA:27 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Dent Disease 2 |
|
Short stature, Elevated circulating aspartate aminotransferase concentration, Chronic kidney dise... |
OMIM:300555 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Deep philtru... |
OMIM:609637 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Valinemia |
|
Valinuria, Failure to thrive |
OMIM:277100 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Ataxia, Spastic paraplegia, Renal hypoplasia, Hyperammonemia, Tetrap... |
ORPHA:254913 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Glycine Encephalopathy 1 |
|
Death in infancy, Hyperglycinuria, Hypotonia, Hyperglycinemia, Myoclonus, Generalized hypotonia |
OMIM:605899 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Hypop... |
OMIM:618913 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Elevated cir... |
ORPHA:42 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria |
OMIM:606528 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... |
OMIM:613404 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Hypospadias, Small for gestational age, Hyperammonemia, Generalized hypotonia, N... |
OMIM:618253 |
| Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia |
OMIM:602079 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:619386 |
| 5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Hypotonia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Osteomalacia, Recurrent fractures, Delayed... |
OMIM:300009 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Failure to thrive, Incoordination, Ataxia, Clonus, Decreased plasma free carnit... |
OMIM:616034 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Congenital Disorder Of Glycosylation, Type Ip |
|
Hypotonia, Hyperammonemia, Opisthotonus, Death in childhood, Neonatal hypotonia |
OMIM:613661 |
| Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic diplegia, Hyperammonemia, Hypotoni... |
ORPHA:391428 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Rickets, Growth ... |
OMIM:615605 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Cerebral palsy, Hyperglycinuria, Hyperammonemia, Opisthotonus, H... |
OMIM:210210 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypotonia, Opisthotonus, Acute hepatic steatosis, Generalized hy... |
OMIM:210200 |
| Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Hypotonia, Hyperammonemia, Ankle clonus, Elevated plasma cit... |
ORPHA:247525 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... |
ORPHA:30 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Truncal ataxia, Dysmetria, Hypotonia, Aminoaciduria, Myoclonus, Dystonia... |
OMIM:250620 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
| Hartnup Disorder |
|
Short stature, Neutral hyperaminoaciduria |
OMIM:234500 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Short stature, Large... |
OMIM:616026 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Abnormality of the dentition, High palate, Short philtrum, Short nose |
ORPHA:217340 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Hypotonia |
OMIM:213000 |
| Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Short stature, Spastic paraparesis |
OMIM:312910 |
| Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Axial hypotonia, Tremor, Myoclonus, Death in childhood, Failure to thrive |
OMIM:619651 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hyperphosphaturia, Failure to thrive, Elevated circulating aspartate am... |
ORPHA:2088 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia, Pulmonary hemor... |
OMIM:603585 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Cryptorchidism, Low plasma citrulline, Hypotonia, Hyperammonemia, Athetosis, Hypop... |
OMIM:219150 |
| Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria |
OMIM:236250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Hyperammonemia, Limb ataxia, Generalized hypotonia, Truncal ataxia, Hyperalaninemia... |
OMIM:619051 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Short stature, R... |
OMIM:613388 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Postnatal... |
OMIM:617093 |
| Hypertryptophanemia |
|
Generalized joint laxity, Limited elbow extension, Camptodactyly of finger, Tryptophanuria |
OMIM:600627 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Intrauterine growth retar... |
ORPHA:2515 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Hyperlysinemia |
|
Failure to thrive, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis,... |
ORPHA:2203 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Failure to thrive, Hyperglutamatemia, Generalized dystonia, Cerebral palsy, Spast... |
OMIM:620358 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
| Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Hypotonia, Limb dystonia, Intrauterine growth retardation |
OMIM:620270 |
| Cerebral Creatine Deficiency Syndrome 3 |
|
Failure to thrive, Organic aciduria |
OMIM:612718 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia, Infant... |
ORPHA:927 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop... |
OMIM:614520 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Small for gestational age, Elevated circulating creatine kinase concentration, ... |
OMIM:619055 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Hypotonia, Aminoaciduria, Generalized hypoton... |
OMIM:609560 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
| Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ... |
OMIM:207800 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Short stature, Recurrent fractures, Splenomegaly, Thrombocytopen... |
OMIM:222700 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Axial hypotonia, Spastic tet... |
OMIM:605711 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Small ... |
OMIM:612073 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Intrauterine growth retardati... |
OMIM:600252 |
| Dent Disease |
|
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... |
ORPHA:1652 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Respiratory tract infection, Reduced proportion of mucosal-associated in... |
OMIM:615897 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Microvesicular hepatic steatosis, Chorea, Hypotonia, Hyperammonemia, O... |
OMIM:616672 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Hypoplastic left atrium, Wide... |
OMIM:615524 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Elevated circulating creatine kinase conce... |
OMIM:201475 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Wide anterior fontanel, Generalized aminoaciduria, Ren... |
OMIM:231680 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hyperammonemia |
ORPHA:35 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia |
OMIM:300577 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... |
ORPHA:2476 |
| Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Short stature, Ataxia, Tremor, Increased urinar... |
ORPHA:812 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Rickets, Renal tubular dysf... |
ORPHA:213 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Thin vermilion border, Narrow mouth, Intrauterine growth reta... |
ORPHA:2370 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth, Intrauterine... |
ORPHA:1832 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Asymptomatic hyperammonemia |
OMIM:606762 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Argininosuccinic Aciduria |
|
Short stature, Ataxia, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargi... |
ORPHA:23 |
| Diprosopus |
|
Abnormality of the nose, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac septu... |
ORPHA:1681 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruptio... |
OMIM:618506 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hypotonia, Hyper... |
OMIM:251110 |
| Dermotrichic Syndrome |
|
Proportionate short stature, Aminoaciduria, Anemia |
ORPHA:99688 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Megaloblastic anemia, Poor coordination, Hypotonia, Hyperhomocystinemia, Gener... |
OMIM:250940 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hyperammonemia, Elevated circulating suberic... |
OMIM:615160 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Hypotonia, Me... |
OMIM:236270 |
| Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul... |
ORPHA:309169 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... |
ORPHA:71212 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| 2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Hypotonia, Cystinuria, Growth delay, Hypogonadism, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Short stature... |
OMIM:620210 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Osteomalacia, Hypocitratur... |
ORPHA:18 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Dandy-Walker malform... |
ORPHA:438178 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Huntington Disease-Like 2 |
|
Parkinsonism, Involuntary movements, Chorea, Weight loss, Dystonia |
ORPHA:98934 |
| Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-aminobutyric acid in uri... |
OMIM:271980 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, ... |
ORPHA:401935 |
| Catel-Manzke Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect, Or... |
ORPHA:1388 |
| Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hypotonia, Hyperammonemia, Generalized hypotonia, Neonatal death |
OMIM:610015 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Short stature, Elevated circulating creatine kinase concentration, H... |
OMIM:618120 |
| Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue, Abnormal heart morphology |
DECIPHER:52 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Short stature, Thiamine-responsive megaloblastic anemia, Aminoaciduria, Thr... |
OMIM:249270 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hyperammonemia, Growth delay, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... |
ORPHA:1248 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Hypercalciuria, Ami... |
OMIM:239200 |
| Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:615731 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Generalized hypotonia, Hyperammonemia |
OMIM:614111 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Narrow mouth, Short nose, Ventriculomegaly |
ORPHA:217385 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Ataxia, Methylmaloni... |
ORPHA:1933 |
| Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity |
ORPHA:833 |
| Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion |
OMIM:155050 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Nephr... |
OMIM:611590 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
| D-Glyceric Aciduria |
|
Axial hypotonia, Nonketotic hyperglycinemia, Spastic tetraplegia, Opisthotonus, Growth delay, Spa... |
OMIM:220120 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Death in infancy, Ataxia, Elevated circulating creatine kinase concen... |
OMIM:610505 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... |
OMIM:617752 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Hy... |
OMIM:603471 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Hypotonia-Cystinuria Syndrome |
|
Axial hypotonia, Hypergonadotropic hypogonadism, Postnatal growth retardation, Nephrolithiasis, H... |
OMIM:606407 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Underdeveloped nasal alae, Cleft palate, Hydranencephaly, Truncus arte... |
OMIM:601355 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Abnorma... |
ORPHA:2701 |
| Pyruvate Carboxylase Deficiency |
|
Tremor, Abnormal pyramidal sign, Generalized hypotonia, Hypoglutaminemia, Hepatomegaly, Ataxia, E... |
ORPHA:3008 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dow... |
OMIM:613443 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Death in childh... |
OMIM:618641 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in infancy, Postnatal growth retardation, Hypotonia, Death in childhood, Intrauterine growt... |
OMIM:615440 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Elevated circulating lon... |
OMIM:214110 |
| Holocarboxylase Synthetase Deficiency |
|
Hypotonia, Hyperammonemia, Organic aciduria, Hypertonia, Generalized hypotonia, Elevated urinary ... |
OMIM:253270 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... |
OMIM:608836 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Small for gestational age, Ataxia, Neutropenia, Hypotonia, Hyperammonemia, Growth de... |
OMIM:615471 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus |
OMIM:159900 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Eleva... |
OMIM:618384 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
| Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Depressed nasal bridge, Ventricular septal defect, Hydrocephalus, Doub... |
OMIM:220210 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Leukocytosis, Hypotonia, Hyperammonemia, Weight loss, Hyperurice... |
ORPHA:134 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, ... |
ORPHA:398156 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Decreased body weight, Short stature, Jaundice, ... |
ORPHA:1667 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, High palate, Transposition of the great arteri... |
ORPHA:1913 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walker malformation |
OMIM:147800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Hypotonia, Renal tubular dy... |
OMIM:220110 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Hypotonia... |
OMIM:616457 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Intrauterine growth retardatio... |
OMIM:611867 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Abnormal palate morphology, Narrow mouth, Intrauterine growth retardation, Short nose, Ventriculo... |
ORPHA:1495 |
| Leber Congenital Amaurosis 1 |
|
Growth delay, Hyperthreoninuria, Hepatomegaly |
OMIM:204000 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:26791 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia |
ORPHA:35878 |
| Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Sarcosinemia |
|
Ataxia, Hypersarcosinemia, Tetraparesis, Infantile muscular hypotonia, Hypersarcosinuria |
ORPHA:3129 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, High palate, Everted lower lip vermilion, Short nose, Convex nasal ridge |
ORPHA:1695 |
| Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic ... |
OMIM:277900 |
| Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Elevated circulating creatine kinase concentration, Clonus, Elevated circulati... |
OMIM:616878 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Axial hypotonia, Hypouricemia, Increased urinary taurine, Limb hypertonia, Hypertonia, Hypertauri... |
OMIM:615501 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Hydrocephalus |
OMIM:129850 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Spastic hemiparesis, Leukocytosis, Jaundice,... |
ORPHA:20 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocyto... |
OMIM:619164 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hydrocephalus, High palate, S... |
OMIM:300558 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevate... |
OMIM:620300 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnorm... |
OMIM:613135 |
| 8P23.1 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, T... |
ORPHA:251076 |
| Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
| Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Abnormal heart morphology, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, Renal ... |
OMIM:617913 |
| Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... |
OMIM:137550 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Hepatomegaly, Failure to thrive, Clonus, Poor coordination, Abnormal pyramidal si... |
ORPHA:415 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Severe muscular hypotonia, Spastic tetraplegia, Hypotonia, Hyperglycinemia, Intrauterine growth r... |
OMIM:615330 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Depressed nasal bridge |
ORPHA:1918 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Death in infancy, Thrombocytopenia, Copper accumulation in liver, Hypotonia, Growth delay, Death ... |
OMIM:614946 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, ... |
OMIM:237300 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... |
OMIM:619995 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
| Muscular Dystrophy, Cardiac Type |
|
Carnosinuria |
OMIM:309930 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... |
OMIM:619736 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Depressed nasal ri... |
OMIM:613885 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Ataxia, Elevated circulating creatine kinase concentration, Clonus, Incoordination, El... |
ORPHA:480864 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Conjug... |
OMIM:617049 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Intrauterine growth ret... |
OMIM:615010 |
| Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia into... |
OMIM:215700 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic pleiocytosis, Intr... |
OMIM:610333 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
| Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
| Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... |
ORPHA:284169 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Axial hypotonia, Lacticaciduria, Methylmalonic aciduria, Hypotonia, Growth dela... |
OMIM:245400 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Short stature, Tremor, Growth delay, Decreased serum creatinine, Intrauterine ... |
OMIM:617744 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Hydrocep... |
ORPHA:1908 |
| Mulibrey Nanism |
|
Hepatomegaly, Wide nose, Depressed nasal bridge, Dental crowding, Cardiomegaly, Dental malocclusi... |
OMIM:253250 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... |
OMIM:612736 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Anteverted nares, Cardiomegaly, Splenomegaly, Hydrocephalus, Gingival overgrowth, H... |
OMIM:269920 |
| Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Anteverted nares, Hydrocephalus, Wide nasal bridge, Long philtrum, Short nose, ... |
OMIM:618577 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hypotoni... |
OMIM:212138 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Spastic tetraparesis, Increased urinary sulfite level, Ab... |
OMIM:252150 |
| Rett Syndrome |
|
Increased serum pyruvate, Limb apraxia, Hyperammonemia, Bradykinesia, Cholecystitis, Dystonia, Fa... |
ORPHA:778 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Short stature, Ectopic kidney, Aminoaciduria, Emphysema, Hydron... |
ORPHA:634 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Protruding tongue, Hydrocephalus, Alveolar ridge ove... |
OMIM:612938 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Spastic tet... |
OMIM:252160 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Generali... |
ORPHA:99901 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Narrow mouth, Atrial septal defect, Abnormal nostril morphology, Anal ... |
ORPHA:3469 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydrocephalus, Macro... |
ORPHA:1914 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bi... |
OMIM:608572 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid... |
ORPHA:54251 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
| Fried Syndrome |
|
Hydrocephalus, High palate, Short philtrum |
ORPHA:85335 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Bulbous nose, Oligodontia, Lateral ventricle... |
OMIM:618330 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Increased susceptibili... |
OMIM:609220 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Incoordination, Short stature, Small for gest... |
OMIM:277380 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait, ... |
ORPHA:521406 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Absent cupid's bow, Cleft pa... |
OMIM:617616 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Downturned corners of ... |
OMIM:618974 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia into... |
OMIM:207900 |
| Filippi Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Wide nasal bridge, Serrated incisors, Thin ... |
OMIM:272440 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Smooth philtrum |
OMIM:602501 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Lymphopenia, Recurrent upper respiratory tract infe... |
OMIM:615401 |
| Anencephaly 2 |
|
Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate |
OMIM:619452 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate |
ORPHA:945 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Thin vermilion border, Anteverted nares |
ORPHA:1532 |
| Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Neutropenia, Ataxia, Renal tubular dysfunction... |
ORPHA:506 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Ataxia... |
ORPHA:79282 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... |
OMIM:618935 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly |
ORPHA:2576 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Thi... |
OMIM:612946 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus, Anteverted nares |
OMIM:300884 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Lambotte Syndrome |
|
Ventricular septal defect, Narrow mouth, Intrauterine growth retardation, Convex nasal ridge, Sem... |
OMIM:245552 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
| Immunoneurologic Disorder, X-Linked |
|
Neonatal hypotonia, Small for gestational age, Functional abnormality of the bladder, Spastic par... |
OMIM:300076 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Broad nasal tip, Wide nasal bridge, Smooth p... |
OMIM:620393 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Growth delay, Choreoathetosis, Transient hyperphenylalaninemia, ... |
OMIM:612716 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic aciduria, Growth delay, Normochromic anemia, Neutropenia, Failure to thrive, Homocy... |
OMIM:614857 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Extramedullary hem... |
ORPHA:79303 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hyperphenylalaninemia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Axial hypotonia, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Tremor, Growth delay, Spasticity |
OMIM:278780 |
| Peho-Like Syndrome |
|
Short nose, Ventriculomegaly, Open mouth |
OMIM:617507 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Hydrocephalus, Wide nasal bridge, Short philtrum, Abnormal oral cavity... |
ORPHA:1516 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, M... |
OMIM:600649 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus, Wide nasal base, Wide nasal bridge |
OMIM:616521 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia |
ORPHA:2582 |
| Verheij Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Ventricular septal defect, Broad nasal tip, Wide nasa... |
OMIM:615583 |
| 3C Syndrome |
|
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial septal defect, ... |
ORPHA:7 |
| Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Hypotonia, Hyperammonemia, Organic aciduria |
OMIM:253260 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Exaggerated... |
OMIM:618619 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose |
OMIM:300581 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hyperammonemia |
OMIM:620137 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... |
OMIM:617284 |
| Perlman Syndrome |
|
Hepatomegaly, Anteverted nares, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe... |
ORPHA:2849 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose |
ORPHA:2429 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Failure to thrive, Ketonuria, Hyperammonemia |
OMIM:615453 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... |
OMIM:613604 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge... |
OMIM:213200 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R... |
OMIM:213600 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Wide nasal bridge, High palate, Broad alveolar ridges, Convex nasal ridge |
OMIM:314320 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum, Ventriculomegaly |
ORPHA:85277 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do... |
OMIM:231060 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... |
OMIM:601224 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Open mouth, Downturned corn... |
OMIM:614744 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plas... |
OMIM:311250 |
| Myasthenic Syndrome, Congenital, 22 |
|
Short stature, Cystinuria |
OMIM:616224 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... |
OMIM:616733 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Hydrocephalus, Cleft palate, M... |
OMIM:241800 |
| Acromicric Dysplasia |
|
Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum |
ORPHA:969 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Autoimmune hemolytic anem... |
OMIM:619802 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U... |
OMIM:600363 |
| Atypical Rett Syndrome |
|
Involuntary movements, Tremor, Limb myoclonus, Hypotonia, Gait ataxia, Growth delay, Pill-rolling... |
ORPHA:3095 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Hypotonia, Methylmalonic aciduria... |
OMIM:614105 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Ataxia, Proportionate short stature, Spastic tetraparesis, Babinski sign, S... |
ORPHA:3208 |
| Even-Plus Syndrome |
|
Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Atrial septal defect, Short nose... |
OMIM:616854 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossific... |
OMIM:300554 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Wide nasal bridge, Everted lower lip vermilion, Narrow mouth, Atrial s... |
ORPHA:228399 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft |
ORPHA:324416 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Cleft palate, Extra-axial cerebrospinal fluid accumulation,... |
OMIM:614261 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Hepatomegaly, Tented upper lip vermilion, Anteverted nares, Wide nasal bridg... |
OMIM:619383 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Wide nasal bridge, Broad secondary alveolar ridge, High palate, Convex... |
ORPHA:3369 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity |
OMIM:615768 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, H... |
OMIM:619487 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Wide anterior fontanel, Epiphyseal st... |
OMIM:214100 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega... |
OMIM:226990 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open... |
OMIM:617877 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Aortic valve ... |
OMIM:220220 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Methioninuria, Limitation of joint mobility, Osteoporosis, Failure to thrive, Hep... |
OMIM:236200 |
| 5Q14.3 Microdeletion Syndrome |
|
Ventriculomegaly, Anteverted nares, Short philtrum, Short nose, Open mouth |
ORPHA:228384 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Hydrocephalus, Downturned corners of mouth, Thin vermilion bor... |
ORPHA:1895 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Anteverted nares, Dental crowding, Pierre-Robin sequence, Choroid plex... |
OMIM:617201 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Dysplastic pulm... |
OMIM:300958 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:858 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Depressed nasal bridge, An... |
ORPHA:261236 |
| Temple Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Cleft palate, High palate, Sh... |
OMIM:616222 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:158057 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Parachute mitral valve, Promi... |
OMIM:618316 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:614470 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Increased circulati... |
OMIM:617916 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:26793 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior... |
OMIM:601357 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Delayed eruption of permanent teeth, Narrow mouth, Atrial septal defect, Microd... |
OMIM:619356 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Atrial se... |
OMIM:613870 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect |
ORPHA:93946 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Open mouth, Broad nasal tip |
OMIM:613670 |
| 15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition, Cleft palate, Sh... |
ORPHA:261190 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
| Huntington Disease |
|
Clonus, Involuntary movements, Abnormal libido, Rigidity, Chorea, Babinski sign, Weight loss, Clu... |
ORPHA:399 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, High palate, Long philtrum |
ORPHA:2598 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
| Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly,... |
ORPHA:47612 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Postnatal growth retardation, Obesity, Hypotonia, Poor fine motor coordinat... |
ORPHA:254531 |
| Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin... |
OMIM:602342 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Non-midline cleft lip, Cleft palate, Atrial septal de... |
ORPHA:1915 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Depressed nasal ridge, Narrow mout... |
ORPHA:1529 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect, Lateral ventricle dilatation |
OMIM:616816 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Axial hypotonia, Tremor, Rigidity, ... |
ORPHA:70594 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... |
ORPHA:289157 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Nephrocalcinosis, Growth delay, Distal renal tubular acidosis, Failure t... |
OMIM:602722 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Anteverted nares, Ventricular septal defect, Proboscis, Aloba... |
OMIM:619895 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Chorea, Nonketotic hyperglycinemia, Hyperglycinuria,... |
ORPHA:941 |
| Stickler Syndrome Type 1 |
|
Long philtrum, Short nose, Cleft palate, Mitral valve prolapse |
ORPHA:90653 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, Bulb... |
ORPHA:2180 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Growth ... |
OMIM:264700 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose, Anomalous pulmonary venous return, Tetralogy o... |
ORPHA:2184 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Lymphopenia... |
OMIM:619773 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Trisomy 17P |
|
Wide nose, Prominent nose, Hydrocephalus, Orofacial cleft, Cleft palate, Wide mouth, Macroglossia... |
ORPHA:261290 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia |
OMIM:276950 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
| Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect, Wide nasal bridge, Low hanging columella |
OMIM:615236 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate |
OMIM:614120 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Hydrocephalus, Dysplastic tricus... |
OMIM:612863 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hypotonia, Methy... |
OMIM:277410 |
| Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Nephropathy, Generalized hypotonia, Um... |
ORPHA:87876 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Neonatal death, Hyperala... |
OMIM:619003 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenom... |
OMIM:211600 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentration,... |
OMIM:614307 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Follicu... |
OMIM:619846 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, High palate, Long philtrum, Sh... |
OMIM:613544 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Ab... |
OMIM:179613 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Deep philtrum, Ventricular septal defect, Widely spaced teeth |
OMIM:619717 |
| Hyperprolinemia Type 2 |
|
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Hydrocephalus, Wide nasal bridge, Cleft palate, Downturned corners of mout... |
ORPHA:2075 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Anteverted nares, Bulbous ... |
OMIM:220500 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventriculomegaly, Anteverted nares, Ventricular septal defect, Cardiomegaly, Wide nasal bridge, C... |
OMIM:616897 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, ... |
OMIM:261640 |
| Triploidy |
|
Hepatomegaly, Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft pa... |
ORPHA:3376 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Intraute... |
ORPHA:2516 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Hypotonia, Weight loss, Generalized hypotonia, Slender build |
OMIM:613662 |
| Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, High, narrow palate, Pyloric stenosis, Talon ... |
ORPHA:2409 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Impaired ... |
OMIM:619738 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum |
OMIM:618218 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Tetralogy of Fallot |
OMIM:300887 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Downturned corners of mouth, Atr... |
OMIM:618652 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Ventricular septal defect, Bulbous nose, Wide nasal bridge, Abnormal hear... |
ORPHA:369891 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Thin vermilion border, High palate, Short philtrum, Long philtrum, Short nose |
OMIM:617991 |
| Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst |
OMIM:109130 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Generalized... |
ORPHA:98763 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Wide nasal br... |
OMIM:243310 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, ... |
ORPHA:159 |
| Canavan Disease |
|
Abnormal pyramidal sign, Hypotonia, Elevated urinary N-acetylaspartic acid level, Increased circu... |
OMIM:271900 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short statur... |
OMIM:239000 |
| Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum |
OMIM:190440 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Short nose, Narrow mouth |
OMIM:616459 |
| Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Hepatosplenomegaly |
ORPHA:221054 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Gl... |
ORPHA:411629 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Hypotonia, Methylmalonic aciduria, Dysmetria, Intrauterine growth reta... |
OMIM:615578 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, Recurrent upper respiratory tract infec... |
ORPHA:277 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Ventriculomegaly, Broad nasal t... |
OMIM:614749 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Intestinal malrotation, Velopharyng... |
OMIM:614701 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:615518 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Fumarase Deficiency |
|
Failure to thrive, Bilateral fetal pyelectasis, Increased urine succinate level, Intrahepatic cho... |
OMIM:606812 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Short stature, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, O... |
OMIM:612438 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Cle... |
OMIM:239300 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Anteverted nares, Pierre-Robin sequence, Wide n... |
OMIM:619980 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:304100 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Death in early adulthood, Short stature, Postural tremor, Ataxia, Hypogonadotropic hypogonadism, ... |
OMIM:607694 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Short nose, Anteverted nares |
ORPHA:531 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Anteverted nares, Spina bifida, Open bite, Abnormality of dental eruption... |
ORPHA:1327 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemic rickets |
OMIM:193100 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... |
ORPHA:157941 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
| Peroxisome Biogenesis Disorder 5B |
|
Neonatal hypotonia, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, ... |
OMIM:614867 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Short stature, Osteomalacia, Hypercalciuria, Nephrolithiasis, Reduced bone min... |
ORPHA:157215 |
| Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase co... |
OMIM:615673 |
| Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Generalized hypotonia, Palatal ... |
ORPHA:363717 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Thick nasal alae, Hydrocephalus, Short nose, Meckel diverticulum, Dandy-Walker ... |
ORPHA:163961 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Wide mouth, Intrauterine growth retardation, Short nose, ... |
OMIM:615419 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short columella, Thin vermilion border, ... |
ORPHA:171839 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose |
OMIM:618379 |
| Emanuel Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Dental crowding, Delayed eruptio... |
OMIM:609029 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Bilat... |
OMIM:610828 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hepatosplenomegaly, Wide mouth, Abnor... |
OMIM:608776 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
| Rhabdoid Tumor |
|
Renal neoplasm, Cerebral palsy, Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Neop... |
ORPHA:69077 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Extra-axial ce... |
OMIM:619179 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Frequ... |
OMIM:616719 |
| Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, A... |
ORPHA:1458 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Urinary incontinence, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dy... |
OMIM:617145 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Mitral valve prolapse, High palate, Narrow mouth, Short nose, Patent foramen ova... |
OMIM:615539 |
| Pai Syndrome |
|
Encephalocele, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal ... |
ORPHA:1993 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Hypotonia, Weight loss |
OMIM:620045 |
| Biotinidase Deficiency |
|
Ataxia, Myelopathy, Hypotonia, Hyperammonemia, Organic aciduria, Spastic paraparesis |
ORPHA:79241 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
| Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Non-midline cleft lip, Cleft palate, Lobar holoprosencepha... |
ORPHA:2117 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia |
OMIM:618587 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, ... |
OMIM:616651 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperam... |
ORPHA:292 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Short stature, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Nephropathy, ... |
ORPHA:1192 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Growth delay, Death in childhood, Choreoathetosis, Dystonia |
OMIM:619422 |
| Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Short nose, Open mouth |
OMIM:618437 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Pulmonary artery atresia, Agenesis of pul... |
OMIM:601186 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Short stature, Thrombocytopenia, Radial club han... |
OMIM:617053 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Axial hypotonia, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... |
OMIM:614831 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the d... |
OMIM:618529 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Limb joint contrac... |
ORPHA:404454 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Depressed nasal ridge, Wide mouth, Short philtrum, Intrauterine growth retardation... |
ORPHA:163966 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
| 16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Bulbous nose, Abnormal heart morphology, Wide mouth, Thin vermilion border, ... |
ORPHA:485405 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hydrocephalus, Wide nasal bridge, Abnormal heart morphology, Short philtrum, Evert... |
OMIM:601499 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
| Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Rigidity, Glutaric aciduria, Spastic diplegia, Hypotonia, Opisthotonus, ... |
OMIM:231670 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Increased circulat... |
OMIM:613179 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Depressed nasal ... |
OMIM:612530 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hypoplasia of teeth, Thin vermilion ... |
OMIM:249620 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
| Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic va... |
OMIM:618027 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular sept... |
OMIM:145420 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bron... |
OMIM:616005 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic... |
OMIM:233910 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Short stature, Ataxia |
ORPHA:1368 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Rickets, Growth delay, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
| Bresek Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Cleft palate, Neonatal death, Intrauterine growth retardati... |
ORPHA:85284 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lu... |
ORPHA:549 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Abnormal heart morphology, Downtur... |
ORPHA:391372 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, In... |
ORPHA:404440 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Hypotonia, Dysmetria |
OMIM:617917 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip,... |
ORPHA:1335 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Short stature, Small for gestational age, Tremor, Cryptorchidism, Hypo... |
OMIM:300957 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Babinski sign, S... |
OMIM:300055 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Myoclonu... |
OMIM:312170 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Depressed nasal bridge, Ventricular septal defect, Dental crowding, Bul... |
OMIM:617061 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... |
OMIM:242700 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
| Ddost-Cdg |
|
Short stature, Nephrotic range proteinuria, Tremor, Oromotor apraxia, Generalized hypotonia, Fail... |
ORPHA:300536 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo... |
ORPHA:94080 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... |
ORPHA:1716 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Ventricular septal defect, Dental crowding, Intestinal malrotation, Long nose, C... |
OMIM:617602 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Hypotonia, Secondary amenorrhea |
ORPHA:3375 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc... |
OMIM:241530 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Underdeveloped nasal alae, Abnormality of the dentition,... |
ORPHA:2315 |
| Christianson Syndrome |
|
Death in early adulthood, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dystonia |
ORPHA:85278 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney,... |
ORPHA:2470 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Denta... |
ORPHA:96170 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Cleft palate, Mitral valve p... |
OMIM:612561 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hyperammonemia |
OMIM:616483 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Intrauterine ... |
OMIM:614815 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... |
OMIM:615157 |
| Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Hypodontia, Tricuspid v... |
ORPHA:1973 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Short stature, Asplenia, Hypoplastic spleen, Micropenis, Decreased skull ossif... |
OMIM:602361 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... |
ORPHA:309246 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
| Filippi Syndrome |
|
Wide nose, Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Wide nas... |
ORPHA:3255 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, An... |
OMIM:185070 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Orofacial cleft, Ventriculo... |
OMIM:615630 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine grow... |
OMIM:616276 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect, Ventriculomegaly |
OMIM:613730 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Failure to thrive |
OMIM:560000 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Pericardial effusi... |
OMIM:239850 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Mesangial hypercellularity, Stage 5 chroni... |
OMIM:617575 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Abdominal mass, Ataxia, Elevated urinary dopamine level, Ab... |
OMIM:256700 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Hypotonia, Hypogonadism, Myoclonus |
ORPHA:97229 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Short nose, Convex nasal ridge, Cleft palate |
ORPHA:2145 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
OMIM:607361 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Pro... |
OMIM:617751 |
| Diencephalic Syndrome |
|
Hydrocephalus, Everted lower lip vermilion |
ORPHA:1672 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Wide nasal bridge, Downturned ... |
OMIM:618067 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Tented upper lip vermilion, Dental crowding, Open mouth |
OMIM:300143 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... |
OMIM:602080 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... |
OMIM:615387 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Ketonuria, Hypospadias, Small for gestational age, Ataxia, Tremor, Microvesicul... |
OMIM:220111 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hep... |
OMIM:232220 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... |
OMIM:179800 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, High palat... |
OMIM:618798 |
| Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Thin upper lip vermilion, Wide nose, Everted upper lip vermilion, Depressed ... |
OMIM:614609 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Hyd... |
OMIM:614424 |
| Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Dyst... |
OMIM:617013 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Axial hypotonia, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Lactica... |
OMIM:124000 |
| Hartnup Disease |
|
Abnormal urinary color, Short stature, Ataxia, Hypotonia, Neutral hyperaminoaciduria |
ORPHA:2116 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Osteoporosis, Leukopenia, Hepat... |
OMIM:613989 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, Hydro... |
OMIM:619833 |
| 4H Leukodystrophy |
|
Short stature, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait ataxia,... |
ORPHA:289494 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Genera... |
OMIM:618060 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Hypotonia, Eyelid myoclonus |
OMIM:616421 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Hypotonia, ... |
ORPHA:52503 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Prominent nose, Carious teeth, High palate, Long philtrum, Atrial sept... |
OMIM:620184 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Abnormal heart morpholog... |
OMIM:618571 |
| Lambert Syndrome |
|
Wide mouth, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1296 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Short stature, Osteomalacia,... |
ORPHA:534 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Short stature, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculom... |
ORPHA:1170 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Ataxia, Urinary incontinence, Cachexia, Clonus, Head titub... |
ORPHA:300605 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Short nose, Depressed nasal bridge |
OMIM:616910 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Failure to thrive in infancy, Oligoarthritis, Growth delay, T l... |
OMIM:619510 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Failure to thrive in infancy, Abscess, Spl... |
OMIM:612852 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Protruding tongue, Bulbous nose, Ab... |
ORPHA:324410 |
| Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Encephalocele, Ventriculomegaly, Anteverted nares, Prominent nasal ... |
OMIM:605627 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Esophageal atresia, Deep philtrum, ... |
OMIM:610536 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:617950 |
| Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep... |
ORPHA:1830 |
| Tetrasomy 18P |
|
Narrow mouth, Short nose, Thin vermilion border, Long philtrum |
ORPHA:3307 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Bulbous nose, Tracheoes... |
ORPHA:1780 |
| Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Underdeveloped ... |
ORPHA:894 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Dystonia |
OMIM:168605 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Cleft palate, Tooth agenesis, Abnormal lower lip morphology, Tetralogy... |
ORPHA:1166 |
| Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip vermilion, Lo... |
ORPHA:1702 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal defect, Depressed nasal... |
OMIM:612582 |
| Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titubation, Spastic par... |
OMIM:312080 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Short nose, Depressed nasal bridge, Intestinal malrotation |
ORPHA:2143 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:609654 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, High palate, Atrial septal defect, Intrauterine growth retardation, Dandy-Walker m... |
OMIM:614846 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Metatropic Dysplasia |
|
Hydrocephalus, Depressed nasal bridge, Cleft palate |
ORPHA:2635 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Bulbous nose, Cleft pal... |
OMIM:618494 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Jaundice, Leukocytosis, Elevated c... |
ORPHA:91547 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Hydrolethalus |
|
Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cleft, Abnormalit... |
ORPHA:2189 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Osteomalacia, Camptodactyly of finger, Fai... |
OMIM:309000 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Ataxia, Hypotonia, Choreoathetosis, Abnorm... |
ORPHA:702 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia |
ORPHA:306669 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose |
OMIM:618774 |
| Moynahan Syndrome |
|
Hypogonadism, Short stature, Cachexia |
ORPHA:2574 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Short nose, Depressed nasal ridge, Hydrocephalus |
OMIM:300863 |
| Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... |
ORPHA:1790 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Athetosis, Generalized hypotonia, Glycosuria |
OMIM:618857 |
| Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
| Tryptophanuria With Dwarfism |
|
Severe short stature, Tryptophanuria |
OMIM:276100 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Failure to thrive |
ORPHA:477673 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Ventriculomegaly, Depressed nasal bridge, Anteverted n... |
OMIM:608013 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short stature, Pneumonia, Reduction of neutrophil motility, Bronchiolitis |
OMIM:266265 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Hypotonia, Cachexia |
ORPHA:1216 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Facial hypotonia, Cachexia, Appendicular hypotonia, Hypertonia, Gen... |
OMIM:616801 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Wide nose, Left atrial enlargement, Cardiomegaly, Prominent nose, Cardio... |
OMIM:300280 |
| Renal Tubular Acidosis Iii |
|
Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcinosis |
OMIM:267200 |
| Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
| Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal stenosis, Hydrocephal... |
ORPHA:93259 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Recurrent upper respiratory tract infections... |
ORPHA:3078 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Intestinal malrotation, Hydrocephalus, Abnormal cardia... |
ORPHA:238769 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Sub... |
ORPHA:457279 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ve... |
ORPHA:93274 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental maloccl... |
OMIM:613680 |
| B4Galt1-Cdg |
|
Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Hydrocephalus, Wide nasal bridge, Long phil... |
ORPHA:79332 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Wide nasal bridge, H... |
OMIM:617452 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holopro... |
OMIM:202650 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossopt... |
ORPHA:1358 |
| Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow... |
OMIM:615879 |
| 8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Hypertrophic cardiomyopathy, Abnormal cardiac septum m... |
ORPHA:251071 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Short nose, High palate |
OMIM:615042 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Hypotonia, Cachexia |
ORPHA:157973 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
| Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Dental crowding, Hydrocephalus, Choanal stenosis, High p... |
OMIM:101600 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Prominent nasal bridge, Wide mouth, Intrauterine growth retardation, W... |
OMIM:617635 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Cleft palate, Orofacial cleft, Long philtrum, Short nose, Ventriculomegaly |
ORPHA:1988 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Thrombocyt... |
OMIM:242900 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg... |
ORPHA:829 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge, Ventriculomegaly, Abnormal heart morphology |
OMIM:175700 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta |
ORPHA:1514 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Convex nasal ridge, Choanal atresia, Abnormal palate morphology |
ORPHA:93262 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Dystonia, Abnormal circulating carnitine concentration, Choreoathetosis, Renal... |
ORPHA:431361 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Growth delay, Choreoathetosis... |
ORPHA:765 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Cleft palate, Spinal dysraphism, Transposition of the g... |
ORPHA:1926 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Everted lower lip vermilion,... |
ORPHA:75389 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Hypotonia, Neonatal death, Myoclonus, Dystonia, ... |
OMIM:619167 |
| Williams-Beuren Region Duplication Syndrome |
|
Broad nasal tip, Diastema, Hydrocephalus, High palate, Short philtrum, Ventriculomegaly |
OMIM:609757 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Ventriculomegaly |
ORPHA:2772 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Abnor... |
ORPHA:500159 |
| Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion, Wide nasal bridge... |
OMIM:618950 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Hydrocephalus, Cleft palate, Widely spaced teeth, Atrial septal defect, A... |
ORPHA:459061 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge, Cleft palate, Narrow mouth |
OMIM:614078 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Leu... |
ORPHA:93552 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... |
OMIM:619859 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... |
OMIM:304790 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Hypotonia, Ataxia, Myoclonus |
OMIM:616366 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Short stature, Ataxia, Abnormal testis morphology, Tremor, Delayed puberty, Sp... |
ORPHA:100 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Underdeveloped nasal alae, Carious teeth, Wide nasal bridge, Abnormal cardiac s... |
OMIM:613026 |
| Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Microd... |
OMIM:601005 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Intrauterine growth... |
ORPHA:1912 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Deep philtrum, Short nose |
OMIM:613320 |
| Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD3-p... |
ORPHA:443811 |
| Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:218350 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Splenomegaly, Hydrocepha... |
ORPHA:35107 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Triangular ... |
OMIM:257300 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... |
OMIM:137440 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Anteverted nares, Bulbous nose, Wide nasal bridge, Noncommunicating h... |
OMIM:619320 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, High palate, Short nose, Increased CSF protein concentration, Ventriculomegaly |
OMIM:218000 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Urinary incontinence, Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Hypotonia,... |
OMIM:618877 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Failure to thrive se... |
ORPHA:169160 |
| Trisomy 1Q |
|
Wide nose, Ventriculomegaly, Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Cl... |
ORPHA:261344 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Increased CSF lactate |
OMIM:616277 |
| Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, Bifid nasal t... |
OMIM:252100 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge, High palate, Atrial s... |
OMIM:618142 |
| Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Ventriculomegaly |
OMIM:618624 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal palate morphology |
ORPHA:251046 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Myoc... |
ORPHA:442835 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
| Thanatophoric Dysplasia |
|
Depressed nasal bridge, Hydrocephalus, Atrial septal defect, Intrauterine growth retardation, Ven... |
ORPHA:2655 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Submucous cleft hard palat... |
OMIM:301043 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Sho... |
OMIM:616430 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... |
ORPHA:363400 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co... |
OMIM:613280 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Bulbous nose, Wide nasal bridge, Deep philtrum |
ORPHA:1237 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, High, narrow palate, Cleft l... |
OMIM:616920 |
| Char Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Persistence of primary teeth, No permanent den... |
ORPHA:46627 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Anteverted nares, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tra... |
ORPHA:59315 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| 15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Total anomalous p... |
ORPHA:261183 |
| Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Depressed nasal bridge, Open mouth, Wide mouth, Long ... |
OMIM:616638 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi... |
OMIM:620156 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Tremor, Neutropenia, Hypotonia, Opisthotonus, Growth delay, Choreoathetosis, ... |
OMIM:616271 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Lower limb spasticity, Short stature, Parkinsonism, Tremor, Obesity, Macroorchidism |
ORPHA:3077 |
| Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Partial atrioventricular canal defect, Hypoplast... |
OMIM:615996 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... |
ORPHA:760 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Cle... |
OMIM:616894 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Hepatosplenome... |
OMIM:612541 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
| Alkaptonuria |
|
Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Arthritis, Aminoa... |
ORPHA:56 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Abnormal cardiac ventricle morphology, Hydrocephalus, Co... |
ORPHA:2306 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, ... |
OMIM:620250 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... |
OMIM:616331 |
| Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Splenomegaly, Deep philtrum, Hep... |
OMIM:606003 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge |
ORPHA:380 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Gi... |
OMIM:217090 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Pneumonia, Jaundice, Lymp... |
ORPHA:276 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Abnormality of upper lip vermillion, Ventricular septal defect, Prominent nasal bridge... |
ORPHA:251028 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, R... |
ORPHA:91500 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Carious teeth, Thin vermilion bo... |
ORPHA:96097 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Ventricular septal defect, Wide nasal bridge, Short philtrum |
ORPHA:93267 |
| Marshall-Smith Syndrome |
|
Ventriculomegaly, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Shor... |
ORPHA:561 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Stillbirth, Anteverted nares |
OMIM:263630 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia |
OMIM:619053 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Hypoplasia of teeth, Downturned corners of... |
ORPHA:391408 |
| Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos... |
ORPHA:699 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cleft palate, Downturned corners of mouth, High palate,... |
ORPHA:163649 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Short stature, Glycosuria, Failure to thrive |
ORPHA:2089 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Renal hypoplasia/aplasia, Hypotonia, Hypocalcemia, Intrauterine growth retardation |
ORPHA:1438 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... |
OMIM:251120 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Bifid nasal tip, Complete atr... |
OMIM:619343 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Enlarged kidney, Tran... |
OMIM:314390 |
| Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Prominent nose, Wide mouth, Macroglossia, Short philtrum, Long philtru... |
OMIM:615668 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Hypotonia, Gait ataxia, Elevated urine acetoacetic acid level, 3-Methylglu... |
OMIM:620089 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Esophageal atresia, Tracheoesophageal fistula, Intrau... |
ORPHA:1923 |
| Double Outlet Right Ventricle |
|
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard p... |
ORPHA:3426 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... |
OMIM:619281 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia,... |
OMIM:617710 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cleft palate, Hydranencephaly, Intrauterine growth retardation, ... |
OMIM:225790 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
| 22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal ridge, Cleft palate, Hypoplastic left heart... |
ORPHA:1727 |
| Orotic Aciduria |
|
Failure to thrive, Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anem... |
OMIM:258900 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Cleft palate, Short nose, Accessory oral frenulum |
ORPHA:79113 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Prominen... |
OMIM:608670 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Tremor, Overweight, Hypotonia, Hyperkinetic movements, Upper limb spasticity, Micr... |
ORPHA:457240 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordinat... |
ORPHA:352649 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u... |
OMIM:616100 |
| Smith-Magenis Syndrome |
|
Ventriculomegaly, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed e... |
ORPHA:819 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Short lingual frenul... |
OMIM:617360 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Hydrocephalus, Alveolar ridge overgrowth, Cleft palat... |
OMIM:602398 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Increased susc... |
OMIM:619752 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... |
OMIM:164200 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Osteopenia, Aplastic anemia, Eosinoph... |
ORPHA:486 |
| Trisomy 12P |
|
Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Short ... |
ORPHA:1699 |
| Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Nasal polyposis, Atrial situs ambiguous, Intestinal malrotation, Sit... |
ORPHA:244 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Protruding tongue, Conotruncal defect, Downturned corners of mouth, Macroglossi... |
ORPHA:96147 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Pr... |
ORPHA:435638 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, L... |
OMIM:605309 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Rhizomelia, Hypotonia, Weight loss, Severe short-limb dwarfism, Failure to thrive, ... |
ORPHA:1842 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:507 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uri... |
OMIM:616795 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Respiratory tract infection, Perianal abscess, Peritonitis, Cervical lymphade... |
ORPHA:2686 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Long philtrum |
OMIM:619189 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Esophageal varix, Inflammat... |
OMIM:614576 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Prominent nasal bridge, High pala... |
ORPHA:505237 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
| Achondrogenesis |
|
Short nose, Anteverted nares, Long philtrum |
ORPHA:932 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus |
ORPHA:163596 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Pericardial effusion, Hydrocephalus, ... |
OMIM:617822 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge,... |
OMIM:309520 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Peho Syndrome |
|
Ventriculomegaly, Anteverted nares, Open mouth, Hydrocephalus, Gingival overgrowth, Abnormal uppe... |
ORPHA:2836 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat... |
OMIM:261680 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Hydrocephalus, Downturned corners of... |
OMIM:618590 |
| Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... |
OMIM:616730 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Anophthalmia Plus Syndrome |
|
Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... |
ORPHA:1104 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Short nose, V... |
ORPHA:2083 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose, Spina bifida occulta |
ORPHA:2983 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Crouzon Syndrome |
|
Hydrocephalus, Convex nasal ridge, Choanal atresia, Narrow palate |
ORPHA:207 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Smooth philtrum, Thin upper lip vermilion, Ventriculomegaly, Depressed nasal bridge, Anteverted n... |
OMIM:618454 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Lower limb spasticity, Ataxia, Hyperhomocystinemia, Cystathioninemia, Hemipare... |
ORPHA:395 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Short nose, Ventriculomegaly |
ORPHA:2031 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Short stature, Ataxia, Tremor, Splenomegaly, Hypotonia, Hepatosplenomegaly,... |
ORPHA:354 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose, Smooth philtrum |
OMIM:618828 |
| Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular ... |
OMIM:158170 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
| Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, O... |
ORPHA:870 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Grow... |
OMIM:616586 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... |
OMIM:301078 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Microvesic... |
OMIM:613070 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum, Abnormal hea... |
ORPHA:314655 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... |
OMIM:264480 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Neonatal hypotonia, Axial hypotonia, Short stature, Cachexia, Spastic tetraplegia, Hypotonia, Inf... |
ORPHA:371364 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Short nose, Smooth philtrum |
OMIM:616420 |
| Malan Syndrome |
|
Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advanced eruption of teeth, Short... |
OMIM:614753 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic kidney disea... |
OMIM:249100 |
| Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Esophageal atresia, Wide nasal bridge, Abnormal hear... |
ORPHA:2209 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Anteverted nares, Dextrocardia, Prominent nasal bridge, Aganglionic megacolon, Hyd... |
ORPHA:220493 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Prader-Willi Syndrome Due To Translocation |
|
Prominent nose, Downturned corners of mouth, High palate, Patent foramen ovale, Bifid uvula, Ante... |
ORPHA:177907 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Dental crowding, Choanal atresia, Abnormal large intestine morphology, Prominen... |
ORPHA:93932 |
| Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Hypertonia, Generalized hypotonia, Hepatic steatosis, Hemolytic anem... |
OMIM:615846 |
| Fusariosis |
|
Brain abscess, Lung abscess, Osteomyelitis, Abnormality of the kidney, Pneumonia, Abnormality of ... |
ORPHA:228119 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Nephrolithiasis, Osteolysis, Abnorma... |
ORPHA:93160 |
| Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge |
ORPHA:210548 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Truncal ataxia, Limb ... |
OMIM:208920 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Anteverted nares, Hydrocephalus, Open mouth, Ventriculomegaly |
OMIM:616362 |
| Mccune-Albright Syndrome |
|
Hyperphosphaturia, Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bone... |
ORPHA:562 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglossia, Everted lower lip... |
ORPHA:261144 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:79240 |
| Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventr... |
OMIM:619312 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Hypotonia,... |
ORPHA:99885 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Tremor, Hypotonia, Horseshoe kidney, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functional a... |
ORPHA:391487 |
| Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Abnormality of the dentition, Wide mo... |
ORPHA:363528 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
| Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Failure to thrive, Ketonuria |
ORPHA:35706 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anteverted nares, Accessory oral frenulum, Wide nasal br... |
OMIM:211750 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br... |
OMIM:601927 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Long philtrum, Atrial septal... |
OMIM:618870 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... |
OMIM:615803 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, High palate, Short nose, Depressed nasal bridge |
ORPHA:93258 |
| Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt... |
OMIM:618430 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
| Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Under... |
OMIM:615485 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... |
OMIM:617865 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro... |
OMIM:268315 |
| Bartsocas-Papas Syndrome |
|
Median cleft lip, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose |
ORPHA:1234 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Deep philtrum, Downturned... |
OMIM:615398 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Prominent nose, Cleft palate, Thick vermili... |
ORPHA:447980 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Cleft palate, Anteriorly placed anus,... |
ORPHA:1225 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great arteries, E... |
OMIM:313850 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:276621 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Hydrocephalus, Intrauterine growth retardation, Open mouth, Ventriculomegaly |
OMIM:616355 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2181 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Short stature, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria,... |
OMIM:614381 |
| Achondrogenesis Type 1B |
|
Short nose, Anteverted nares, Long philtrum |
ORPHA:93298 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Clonus, Tremor, Jaundice, Neutropenia, Hypotonia, Growth delay, 3-Methylglutari... |
OMIM:617248 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Art... |
OMIM:260920 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Bulbous nose, Hydrocephalus, Colpocephaly, Atrial septal defect, Ven... |
OMIM:615219 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Failure to thrive, Trem... |
OMIM:615512 |
| Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted ... |
OMIM:300000 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
| Congenital Myopathy 19 |
|
Congenital contracture, Renal atrophy, Hydronephrosis |
OMIM:618578 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Hypot... |
OMIM:128100 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dandy-Walker malformation, Depressed nasal b... |
ORPHA:1465 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala... |
ORPHA:65286 |
| Monosomy 18Q |
|
Depressed nasal bridge, Absence of the pulmonary valve, Prominent nose, Secundum atrial septal de... |
ORPHA:1600 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
| Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Wid... |
OMIM:617450 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Depressed nasal bridge, Myelomeningocele, Pierre-... |
ORPHA:90652 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... |
OMIM:313200 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Downturned corners of mouth, Thick vermilion border, Short nose, Spina bifida o... |
ORPHA:1185 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... |
ORPHA:1572 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Raine Syndrome |
|
Natal tooth, Depressed nasal bridge, Choanal atresia, Protruding tongue, Hydrocephalus, Gingival ... |
OMIM:259775 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Anteriorly placed ... |
OMIM:217980 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Severe short stature, Proteinuria, Failure to thrive, Cachexia, Premature ov... |
OMIM:610965 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Ventricular septal defect, Narrow mouth, Bulbous nose, Severe intrauterin... |
OMIM:614114 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Depressed nasal bridge, Bulbous nose, Submucous cleft hard palate, Thi... |
OMIM:619103 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridge, Intrauterine gro... |
ORPHA:261211 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Shor... |
ORPHA:1770 |
| 19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Ventricular septal defect, Anteverted nares, Cleft palate, Thin vermilion bo... |
ORPHA:254346 |
| Toriello-Carey Syndrome |
|
Dandy-Walker malformation, Ventriculomegaly, Aganglionic megacolon, Cleft palate, Anteriorly plac... |
ORPHA:3338 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Hydrocephalus, Meningocele, Cl... |
OMIM:130720 |
| Majeed Syndrome |
|
Glomerulopathy, Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic an... |
ORPHA:77297 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Carious teeth, High palate, Narrow mouth, Intrauterine growth retardation, Shor... |
OMIM:219200 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Anal atresia |
OMIM:312190 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Broad nasal tip, Deep philtrum, High palate, Low hanging columella |
OMIM:619542 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal ala... |
OMIM:619005 |
| Achondrogenesis Type 1A |
|
Short nose, Anteverted nares, Long philtrum |
ORPHA:93299 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Conical tooth, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:603387 |
| Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Atrial septal defect, Depressed nasal bridge, Anteverted nares,... |
ORPHA:97360 |
| Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Abnormality of the dentition, Carious teeth, Tooth agenesis, Intrauterine growth... |
ORPHA:1786 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Neonatal hypotonia, Proteinuria, Large for gestational age, Abnormal circulating fa... |
ORPHA:263455 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Short nose, Ventriculomegaly |
OMIM:613735 |
| Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Abnormality of the ureter, Intrauterine grow... |
ORPHA:1133 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... |
ORPHA:1507 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Tremor, Hypotonia, Micropenis, Failure to thrive, Decreased body mass index |
ORPHA:370079 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Short nose |
OMIM:617183 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Situs inversus to... |
ORPHA:475 |
| Mucopolysaccharidosis Type 1 |
|
Depressed nasal bridge, Abnormal heart valve morphology, Malabsorption, Abnormal nasal morphology... |
ORPHA:579 |
| Chromosome 18Q Deletion Syndrome |
|
U-Shaped upper lip vermilion, Thin upper lip vermilion, Depressed nasal bridge, Absence of the pu... |
OMIM:601808 |
| Richards-Rundle Syndrome |
|
Reduced bone mineral density, Ketonuria, Joint stiffness |
ORPHA:1399 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Emphysema, Hepatic steatosis, Joint laxity, Short statu... |
OMIM:613658 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Underdeveloped nasal alae, High, narrow p... |
ORPHA:276432 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Osteoarthritis, Rickets, Renal phosphate wasting, Renal tubular dysf... |
OMIM:307800 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Cleft palate, High palate |
ORPHA:52055 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis, Weight loss |
OMIM:613239 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Short nose, Depressed nasal bridge, Dentinogenesis imperfecta |
ORPHA:166272 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Long nose, Bulbous nose, Colpocephaly, High palate, Thick vermilion bo... |
OMIM:620113 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria |
OMIM:251900 |
| Prolidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Splenomegaly, Concave nasal ridge, High palate, Short nose |
OMIM:170100 |
| Stromme Syndrome |
|
Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Hydrocephalus, Wide nasal bridge... |
OMIM:243605 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai... |
OMIM:615816 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Hydrocephalus, Cleft palate, Microdont... |
ORPHA:1812 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, High, narrow palate, H... |
OMIM:616914 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of the dentition, Gingival overgro... |
OMIM:169400 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Intrauterine growth retardation, Short nose, Depressed nasal bridge |
OMIM:614732 |
| Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, High palate, Widely spac... |
OMIM:619762 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Cl... |
ORPHA:220497 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal stenosis, Cleft palat... |
ORPHA:93260 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Mitral valve prolapse, High palate |
OMIM:104350 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Bulbous nos... |
ORPHA:329224 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
| Trisomy 18 |
|
Ventricular septal defect, Choanal atresia, Spina bifida, Esophageal atresia, Non-midline cleft l... |
ORPHA:3380 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Secundum atrial sept... |
OMIM:619951 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopros... |
ORPHA:77298 |
| 12Q14 Microdeletion Syndrome |
|
Short stature, Ectopic kidney, Tremor, Abnormality of the spleen, Renal hypoplasia, Horseshoe kid... |
ORPHA:94063 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Axial hypotonia, Tremor, Cryptorchidism, Fasciculations, Intrauteri... |
OMIM:620327 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Cleft palate, Furrowed t... |
OMIM:616449 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal bridge, H... |
OMIM:123790 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho... |
ORPHA:293173 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft upper lip, Abnormality... |
ORPHA:96167 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Intrauterine growth retardation, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614613 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Depressed nasal bridge, An... |
OMIM:244450 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Babinski sign, Dystonia, Neonatal death, Spasticity |
OMIM:618186 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:560 |
| Ruvalcaba Syndrome |
|
Dental crowding, Thin vermilion border, Narrow mouth, Intrauterine growth retardation, Short nose... |
ORPHA:3121 |
| Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Paraplegia, Weight loss |
ORPHA:98897 |
| X-Linked Agammaglobulinemia |
|
Short stature, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system,... |
ORPHA:47 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Bicuspid aortic valve, Anteverted nares, V... |
ORPHA:261494 |
| Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Thin vermilion border, High palate, Short nose, Smooth philtrum |
OMIM:601853 |
| Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Underdeveloped nasal alae, Cleft upper lip, Carious teeth,... |
OMIM:311200 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Recurren... |
OMIM:619769 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, An... |
OMIM:620365 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Broad nasal tip, High palate, Short philtrum, Tetralogy of Fallot |
ORPHA:3306 |
| Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Ventricular septal defect, Narrow mouth, Wide nasal bridge, High palate... |
OMIM:270450 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Lymphade... |
OMIM:607944 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestion |
OMIM:616037 |
| Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge, Long philtrum |
ORPHA:93328 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Aspartylglucosaminuria |
|
Joint laxity, Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Short statu... |
OMIM:208400 |
| Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Splenomegaly, ... |
OMIM:115150 |
| Hurler Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Splenomegaly, Hydrocepha... |
OMIM:607014 |
| Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose |
ORPHA:1642 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Death in infancy, Premature ovarian insufficiency, Proteinuria, Ataxia, Hypergonado... |
OMIM:212065 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Bulbous nose, Cleft palate, A... |
OMIM:244300 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Wide nasal bridge |
ORPHA:2256 |
| Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor, Short sta... |
OMIM:208900 |
| Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Choanal atresia... |
OMIM:146510 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
| Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Prominent nose, Wide nasal bri... |
ORPHA:96148 |
| Keutel Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Recurren... |
ORPHA:85202 |
| Acrodysostosis |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Open bite, Depressed nasal r... |
ORPHA:950 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short nose |
OMIM:242860 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Splenomegaly... |
OMIM:235255 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Hypogonadism, Fa... |
OMIM:201100 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Ventriculomegaly, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum |
ORPHA:1394 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Narrow nasal ridge, Bulbous nose, Hydrocephalus, High palate, Long philtrum, Intrauterine growth ... |
OMIM:612940 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Tented upper lip vermilion, Prominent nose, Hydrocephalus, Short philtrum, Ever... |
OMIM:617281 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Hypotonia, Growth... |
OMIM:613027 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Renal insufficiency, Lymphopenia, Elevated circulating creatine kinase concentra... |
ORPHA:99826 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Wide nose, Protruding tongue, Secundum atrial septal defect, Splenomegaly, Perimemb... |
OMIM:608779 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus, Narrow palate, Cleft pa... |
ORPHA:1555 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Thin upper lip vermilion, Abnormal heart valve morphology, Cleft lip, Malrotation of small bowel,... |
ORPHA:2953 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Depressed nasal bridge, Ventricular septal defect, Wide nasal brid... |
OMIM:613457 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Intestinal malrotati... |
ORPHA:457193 |
| Gorlin Syndrome |
|
Carious teeth, Hydrocephalus, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Wide nasal bridge, High palate, Atrial septal defect, Intrauterine growth retardation, Short nose |
OMIM:618005 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay, Ascites, Anemia |
ORPHA:75233 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Esophageal atresia, Spina bifida occulta, Trac... |
OMIM:301030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulum, Hydrocephalus, Anencephaly,... |
OMIM:616546 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Splenomegaly, Hydrocephalus, Smooth philtrum |
ORPHA:585 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Broad nasal tip, Deep philtrum, Hydrocephalus, Wide nasal bridge, High palate, Tongue fasciculati... |
OMIM:614969 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Stillbirth |
OMIM:152800 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Anteverted nares, Dilated cardiomyopathy, Wide mouth... |
ORPHA:261250 |
| Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph... |
ORPHA:416 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Elevated circulating creatine kinase concentration, Ataxia, Tremor, Dysmetria, Lim... |
OMIM:617675 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Prominent nasal bridge, Ventricular septal defect, Cleft upper lip, Pylori... |
OMIM:610443 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Intraute... |
OMIM:300514 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Low hanging columella, Wide nasal bridge, Broad nasal tip |
OMIM:620157 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Hydrocephalus, Wide nasal bridge, Atrial septal defect, Double outlet right ventr... |
OMIM:614886 |
| Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Cleft palate, Narrow mouth, Short nose, Long philtrum |
ORPHA:83 |
| Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Spina bifida, ... |
ORPHA:2369 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Talon cusp, Tooth ... |
ORPHA:363417 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia |
ORPHA:3405 |
| Xeroderma Pigmentosum |
|
Short stature, Ataxia, Cryptorchidism, Aminoaciduria, Abnormality of extrapyramidal motor functio... |
ORPHA:910 |
| Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft palate, High palat... |
OMIM:206920 |
| Temple Syndrome |
|
Hydrocephalus, Bifid uvula |
ORPHA:254516 |
| Syndromic Diarrhea |
|
Hepatomegaly, Short stature, Small for gestational age, Increased mean platelet volume, Splenomeg... |
ORPHA:84064 |
| Cadds |
|
Intrauterine growth retardation, Short nose, Ventriculomegaly |
ORPHA:369942 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Wide nasal bridge, Cleft palate, Abnormal heart morphology, Narrow ... |
ORPHA:1865 |
| Peho Syndrome |
|
Short nose, Tented upper lip vermilion, Open mouth |
OMIM:260565 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased female libido, Hypercalcemia, Dec... |
ORPHA:95409 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Mitral valve prolaps... |
OMIM:614185 |
| Pde4D Haploinsufficiency Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel morphology, Prominent no... |
ORPHA:439822 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft ... |
ORPHA:251038 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Adams-Oliver Syndrome 2 |
|
Bulbous nose, Depressed nasal bridge, Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Ventricular septal ... |
OMIM:301044 |
| 20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal... |
ORPHA:363659 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hepatomegaly, Median cleft lip, Ventricular septal defect, Intestinal malrotation, H... |
OMIM:269860 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
| Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Bicuspid aortic valve, High palat... |
OMIM:616652 |
| Tetrasomy 5P |
|
Anteverted nares, Hydrocephalus, Wide nasal bridge, High palate, Long philtrum, Short nose |
ORPHA:3309 |
| Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Pneumothorax, Hepatitis, Leukopenia, Pleural effusion, ... |
ORPHA:454836 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Median cleft lip, Anteverted nares, Ventricular septal defect, Abnormal dent... |
ORPHA:2710 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, H... |
ORPHA:171876 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Clef... |
OMIM:605039 |
| 1Q21.1 Microdeletion Syndrome |
|
Bulbous nose, Hydrocephalus, Wide nasal bridge, Abnormal cardiac septum morphology, High palate, ... |
ORPHA:250989 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Hepatomegaly, Deep philtrum, Dental malocclusion, High palate, Short nose |
ORPHA:329178 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Anteverted nares, Cleft palate, Stillbirth, Narrow mouth, Short nose, Pat... |
OMIM:228520 |
| Tenorio Syndrome |
|
Wide nose, Anteverted nares, Hydrocephalus, Wide mouth, Macroglossia, Recurrent aphthous stomatit... |
OMIM:616260 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Short nose, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Orofacial cleft, Abnormal car... |
ORPHA:2166 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
| Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, High, narrow palate, Wide ... |
OMIM:272950 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevat... |
ORPHA:370348 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:477817 |
| Desbuquois Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares |
ORPHA:1425 |
| Arthrogryposis, Distal, Type 2A |
|
Pursed lips, Dental crowding, Underdeveloped nasal alae, Whistling appearance, Wide nasal bridge,... |
OMIM:193700 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Ventricular septal defect, Mitral valve prolapse, Hyp... |
OMIM:609942 |
| Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares... |
OMIM:147791 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Wide mouth, High palate, Intrauterine growth retardation, Tetralogy of... |
OMIM:613398 |
| Holoprosencephaly |
|
Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosencephaly, Dandy-Walker malformation,... |
ORPHA:2162 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... |
ORPHA:298 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Failure to thrive, Follicular hyperplasia, Joint stiffness, Par... |
OMIM:615934 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares... |
OMIM:301040 |
| Silver-Russell Syndrome |
|
Hypospadias, Short stature, Cachexia, Failure to thrive in infancy, Postnatal growth retardation,... |
ORPHA:813 |
| Apert Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Hydroceph... |
ORPHA:87 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Weight loss, Opisthotonus, Spasticity, Frequent falls |
ORPHA:216866 |
| Aarskog-Scott Syndrome |
|
Anteverted nares, Cleft upper lip, Wide nasal bridge, Cleft palate, Curved linear dimple below th... |
OMIM:305400 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Depressed nasal bridge, Anteverted nares, Open mouth, Cleft palate, Thin vermilion... |
OMIM:614080 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Prominent nose, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick vermilion... |
OMIM:304340 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, High palate, Short philtrum... |
OMIM:300963 |
| Serkal Syndrome |
|
Orofacial cleft, Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Dental crowding, Choanal atresia, Intestinal malrotation, Prominent nose, Cleft up... |
OMIM:305450 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Abnormal CSF pyruvate family amino acid concentration, Increased CSF l... |
ORPHA:79243 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Aminoaciduria, Organic aciduria, Galactosuria, Limited elbow extension |
ORPHA:85276 |
| Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Hurler Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Splenome... |
ORPHA:93473 |
| Lathosterolosis |
|
Hepatomegaly, Anteverted nares, Bulbous nose, Meningocele, Gingival overgrowth, Downturned corner... |
ORPHA:46059 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Depressed nasal bridge, Bicuspid aortic valve, Anteverted nares, Promin... |
OMIM:610759 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, High, narrow palate, Splenomegaly, Anomalous pulmona... |
OMIM:616368 |
| Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Situs inversus totalis, Wide nasal bridge, Cleft palate... |
ORPHA:1449 |
| Sotos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad nasal tip, High, narro... |
OMIM:117550 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Large for gestational age, Multiple pancreatic beta-cell adenomas, Diffuse pancreatic ... |
ORPHA:79644 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Thin upper lip vermilion, Anosmia |
ORPHA:1295 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:29072 |
| Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Renal agenesis, Ataxia, Hypogonadotropic hypogonadism, Tremor, ... |
ORPHA:478 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Increased... |
ORPHA:289176 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Abnormality of the nose, Prominent nose, Hydrocephalus, Depressed nasa... |
ORPHA:2378 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Macroglossia, Cardiomyopathy, V... |
ORPHA:370959 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Long philtrum, Atrial s... |
OMIM:207410 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Ataxia, Postnatal growth retardation, Weight loss, Iron deficie... |
OMIM:212750 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Wide nasal bridge, Cleft p... |
OMIM:247200 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum |
ORPHA:93329 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Duodenal stenosis |
ORPHA:2547 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Downturned corners of mouth, Depressed nasal bridge, Anteverted nares, Communicating hydrocephalus |
ORPHA:1064 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Growth delay, Ascites, Reduced proport... |
ORPHA:90362 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
| Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... |
OMIM:618348 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Choanal atresia, Secundum atrial septal defect, Cleft palate, Esophagi... |
OMIM:612562 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Abnormal heart morphology, Intraute... |
ORPHA:494344 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... |
ORPHA:2437 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Cleft upper lip, Wide nasal bridge, Cleft palate, Atr... |
ORPHA:2008 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Dandy-Walker malformation |
OMIM:616901 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... |
ORPHA:2176 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:103050 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Tremor, Thrombocytopenia, Schistocytosis... |
OMIM:274150 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Joint stiffness, Splenome... |
ORPHA:93 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Recurrent pneumonia, B... |
OMIM:614868 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal d... |
OMIM:619306 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Depressed nasal bridge, Ventricular septal defect, Cardiomegaly, Pericardi... |
ORPHA:363705 |
| Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Dental crowding, Ventricular septal defect, Intestinal malrotation, C... |
OMIM:300373 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, High palate... |
OMIM:300749 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Recurre... |
OMIM:232240 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Osteomyelitis, Glomerulonephritis, Pneum... |
ORPHA:36234 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Ventriculomegaly, Median cleft lip, Bilateral cleft lip, Hydrocephalus, Wide nasal b... |
OMIM:612651 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thin upper lip vermilion, Prominent nose, Bulbous nose, Depressed nasal ridge, Downturned corners... |
OMIM:156200 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy |
ORPHA:26790 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Bulbous nose, Orofacial cleft, Tetralogy of Fa... |
ORPHA:2328 |
| Tetanus |
|
Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Tremor... |
ORPHA:3299 |
| Refsum Disease, Classic |
|
Increased CSF protein concentration, Cardiomyopathy, Anosmia, Cardiomegaly |
OMIM:266500 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
| Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, C... |
ORPHA:3378 |
| Myopathy, Centronuclear, X-Linked |
|
Pyloric stenosis, Hydrocephalus, Dental malocclusion, High palate, Dandy-Walker malformation |
OMIM:310400 |
| Rett Syndrome |
|
Dystonia, Short stature, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity |
OMIM:312750 |
| Diaphanospondylodysostosis |
|
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Intrauterine growth retardation, Sho... |
OMIM:608022 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Wide mouth, Hydrocephalus, Depressed nasal bridge, Ventriculomegaly |
ORPHA:60040 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Thrombocytopenia, F... |
OMIM:617591 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Wide nasal bridge, Short columella, Short philtrum, Short n... |
OMIM:613603 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Leukocytosis, Pneumothorax, Acute infectious pneumonia, Leukopenia, Pleu... |
ORPHA:36238 |
| Hirschsprung Disease |
|
Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int... |
ORPHA:723 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Lower limb spasticity, Proteinuria, Ataxia, Postnatal growth r... |
ORPHA:90321 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph... |
ORPHA:357074 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
| Costello Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormality... |
ORPHA:3071 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Ataxi... |
ORPHA:713 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Desbuquois Dysplasia 1 |
|
Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Intrauterine growth retardation, Short... |
OMIM:251450 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... |
ORPHA:2729 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Intrauterine growth ... |
ORPHA:290 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
| Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Renal insufficiency, Overweight, Leukocytosis, Obesity, Arthritis,... |
ORPHA:247353 |
| Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, C... |
OMIM:101200 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Hydrocephalus, Cardi... |
ORPHA:77301 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... |
ORPHA:400 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Urachal cyst, Neutrophilia, Macrocytic anem... |
OMIM:608203 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Deep philtrum, Short philtrum... |
OMIM:300855 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Wide nasal bridge, C... |
ORPHA:453499 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease, Rickets |
OMIM:219900 |
| Renpenning Syndrome |
|
Severe short stature, Hypospadias, Cachexia, Growth delay, Decreased testicular size |
ORPHA:3242 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Wide mouth, Thin vermilion border, Solitary... |
ORPHA:217346 |
| Au-Kline Syndrome |
|
Ventriculomegaly, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasa... |
OMIM:616580 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Anteverted nares, Splenomegaly, Hydrocephalus, Increased CSF protein concentration,... |
OMIM:272200 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Intrauterine growth ... |
OMIM:612394 |
| Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Hydrocephalus, Submuco... |
ORPHA:1340 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, De... |
OMIM:300967 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Pulmonary fibrosis, Bone marrow hypocellularity, Abnormally low T cell receptor exc... |
OMIM:619767 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... |
OMIM:300912 |
| Nephroblastoma |
|
Weight loss, Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma |
ORPHA:654 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Prominent nasal bridge, Macrodontia, Protruding tongue, Diastema, Ging... |
OMIM:212066 |
| Micro Syndrome |
|
Anteverted nares, Wide nasal bridge, High palate, Short philtrum, Intrauterine growth retardation... |
ORPHA:2510 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Interstitial pneum... |
OMIM:127550 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Weight loss, Bradykinesia, D... |
ORPHA:411602 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Anteverted ... |
ORPHA:280633 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos... |
OMIM:617237 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Carious teeth, Hydrocephalus, Hepatosplenomegaly, Chronic rhinitis ... |
OMIM:259710 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ata... |
OMIM:105210 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Pierre-Robin sequence, Cleft... |
OMIM:154780 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... |
ORPHA:1393 |
| Jacobsen Syndrome |
|
Ventriculomegaly, Anteverted nares, Ventricular septal defect, Intestinal malrotation, Spina bifi... |
ORPHA:2308 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Short... |
OMIM:222448 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Na... |
ORPHA:357001 |
| Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Abnormal atrioventricular connection, Hydrocephalus, Re... |
ORPHA:264450 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Spina bifida, High, narrow pala... |
OMIM:613776 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Depressed nasal bridge, Cardiomegaly, Narrow mouth, Hydrocephalus, Cleft p... |
OMIM:245600 |
| Warburg Micro Syndrome 3 |
|
Downturned corners of mouth, Short nose, Ventriculomegaly, Narrow palate |
OMIM:614222 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Cryptorchidism, Hyperkalemi... |
ORPHA:361 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Advanced eruption of teeth, Atrial septal ... |
OMIM:615873 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Intestinal pseudo-obstruction, Abnormal heart valve morp... |
OMIM:309900 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Depressed nasal... |
ORPHA:2753 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Truncus arteriosus, Esophageal varix, Ventricular septal defect |
OMIM:616589 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... |
OMIM:613458 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Hypodontia |
ORPHA:544503 |
| Mosaic Trisomy 9 |
|
Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intes... |
ORPHA:99776 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Trisomy 20P |
|
Anteverted nares, Spina bifida, Abnormality of the dentition, Downturned corners of mouth, Abnorm... |
ORPHA:261318 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Hypotonia, Cervical myelopathy, Tetraparesis, ... |
OMIM:617186 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Acute Liver Failure |
|
Incoordination, Ataxia, Jaundice, Slurred speech, Hepatitis, Hepatic necrosis, Hyperammonemia, He... |
ORPHA:90062 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Ventriculomegaly, Malabsorption |
ORPHA:452 |
| Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Depressed nasal bridge, Ventricular sept... |
ORPHA:79328 |
| Distal Triplication 15Q |
|
Hydrocephalus, Abnormal heart morphology, High palate, Atrial septal defect, Intrauterine growth ... |
ORPHA:314588 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Splenomegaly, ... |
OMIM:608149 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Volvulus, Short nose, Depressed nasal bridge, Natal tooth |
OMIM:617802 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Bifid nose |
ORPHA:268249 |
| Grange Syndrome |
|
Ventricular septal defect |
ORPHA:79094 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Increased serum beta-hexosaminidase, Tremor, Dysmet... |
ORPHA:845 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Rickets, Short stature |
OMIM:612089 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Broad nasal ... |
ORPHA:1655 |
| Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Complete atrioventricular canal defect, Eruption f... |
ORPHA:476126 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Open bite, Splenomegaly, Hydrocephalus |
ORPHA:2969 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Elevated circulating creatine kinase concentration, Clonus, Tremo... |
OMIM:619424 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Depressed nasal bridge, Ventriculomegaly |
ORPHA:1860 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Orofacial cleft, Abnormal hear... |
ORPHA:171929 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Failure to thrive, Short stature, Renal hypoplasia, Renal cyst, Neutropenia... |
OMIM:618460 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, Choanal stenosis, Short philtrum, High... |
OMIM:602535 |
| Seckel Syndrome 9 |
|
Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Convex nasal ri... |
OMIM:616777 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Zttk Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of the dentition, Submucous cleft ... |
OMIM:617140 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Depressed nasal bridge, Ventricular sept... |
OMIM:235510 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Hydrocephalus, Gingival overgrowth, Hepatosplenomegaly, Abnormal... |
ORPHA:93400 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,... |
OMIM:309801 |
| Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Malabsorption, Protruding tongue, Macroglossia |
ORPHA:2268 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Short nose |
ORPHA:496790 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopeni... |
ORPHA:520 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... |
ORPHA:144 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose |
OMIM:613038 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Hy... |
ORPHA:1578 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermi... |
ORPHA:1519 |
| Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive... |
ORPHA:160 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Choanal atresia, Underdeveloped nasal alae, ... |
ORPHA:163979 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Renal artery stenosis, Infertilit... |
ORPHA:71273 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Short nose, C... |
ORPHA:3258 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... |
OMIM:620005 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Narrow nasal ridge, Premature loss of teeth, Hypoplasia of teeth, High palate, N... |
OMIM:608612 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Wide nose, Ventricular septal defect, Bulbous nose, Hydrocephalus, Depressed nasal ridge, Macrogl... |
ORPHA:261337 |
| Crouzon Syndrome |
|
High palate, Hydrocephalus, Deviated nasal septum, Dental crowding |
OMIM:123500 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Anteverted nares, Cardiomegaly, Wide nasal bridge, Wide mouth, T... |
ORPHA:1517 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Renal atrophy, Growth delay, Vesicoureteral reflux, Joint hypermobility |
OMIM:618659 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Bulbous nose, Velopharyngeal insufficiency,... |
OMIM:192430 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow,... |
ORPHA:464738 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Mild postnatal growth retardation, Camptodactyly of finger, Cra... |
ORPHA:2136 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:600081 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Severe muscular hypotonia, Tremor, Glutaric aciduria, ... |
ORPHA:25 |
| Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cleft palat... |
OMIM:614294 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Wide nose, Anteverted nares, Ventricular septal defect, Intestinal malrotation, Abn... |
ORPHA:955 |
| Toluene Embryopathy |
|
Short nose, Thin vermilion border, Smooth philtrum |
ORPHA:1920 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Splenomegaly, Recurrent sinusit... |
OMIM:604173 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Depressed nasal bridge, High, narrow palate, Hydrocephalus, Lateral ve... |
OMIM:619575 |
| Mend Syndrome |
|
Prominent nasal bridge, Asymmetry of the mouth, Hydrocephalus, Cleft palate, Abnormal heart morph... |
ORPHA:401973 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial anomalous pulmonary veno... |
OMIM:619657 |
| Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, Orofacial cleft... |
ORPHA:2322 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... |
OMIM:608156 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Depressed nasal ridge |
ORPHA:1861 |
| Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Splenomegaly, Pyloric stenosis, Hydrocephalus |
ORPHA:381 |
| Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Axial hypotonia, Clonus, Tremor, Spastic tetraplegia, Hypotonia, Hy... |
OMIM:615574 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Pericardial effusion, Hydrocephal... |
ORPHA:1272 |
| Holoprosencephaly 9 |
|
Depressed nasal bridge, Cleft upper lip, Hydrocephalus, Agenesis of incisor, Single naris, Dental... |
OMIM:610829 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Disproportio... |
ORPHA:89936 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Dand... |
OMIM:613001 |
| Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Ventriculomegaly, Anteverted nares, Ventricular septal defect, Cle... |
ORPHA:2745 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Wide nasal bridge, Cleft palate, Multiple impacted teeth, Narrow mouth,... |
OMIM:311300 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Truncal obesity, Disp... |
OMIM:616541 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615355 |
| Schneckenbecken Dysplasia |
|
Short nose, Stillbirth, Cleft palate |
OMIM:269250 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Increased overbite |
OMIM:618504 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short colume... |
ORPHA:79345 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Pneumonia, Bronchitis, Follicular hyperplas... |
OMIM:619381 |
| Phaver Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Myelomeningocele, Depressed nasal bridge |
ORPHA:2876 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Ectopic anu... |
OMIM:613686 |
| Rabson-Mendenhall Syndrome |
|
Wide nose, Enlarged ovaries, Anteverted nares, Prominent nasal bridge, Ventricular septal defect,... |
ORPHA:769 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Grow... |
OMIM:222300 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Und... |
ORPHA:261330 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| 15Q Overgrowth Syndrome |
|
Dental crowding, High, narrow palate, Hydrocephalus, Wide nasal bridge, High palate, Intrauterine... |
ORPHA:314585 |
| Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Impaired soci... |
ORPHA:2828 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hydrocephalus, Orofacial cleft, Narrow mouth, Anal atresia |
ORPHA:3301 |
| Albers-Schönberg Osteopetrosis |
|
Carious teeth, Hydrocephalus, Abnormality of the dentition |
ORPHA:53 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hydrocephalus, Orofacial cleft, Wide mouth, Dandy-Walker malformation |
ORPHA:1647 |
| Muenke Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:53271 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Depressed nasal bridge, Dental malocclusion, Wide mouth, Thick vermili... |
OMIM:610733 |
| Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Dend Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum |
ORPHA:79134 |
| Addison Disease |
|
Hyponatremia, Normocytic anemia, Premature ovarian insufficiency, Primary testicular failure, Hyp... |
ORPHA:85138 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, High palate, Bifid uvula |
OMIM:300472 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Pancytopenia, Portal hyperten... |
OMIM:615688 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,... |
ORPHA:79102 |
| Cole-Carpenter Syndrome 1 |
|
Microdontia, Hydrocephalus, Communicating hydrocephalus, Dentinogenesis imperfecta |
OMIM:112240 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Stiff neck, Atelectasis, Fulmina... |
ORPHA:319213 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Failure to thrive, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting... |
ORPHA:275761 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet c... |
ORPHA:97289 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Ventricular septal defect, Tented upper lip vermilion, Anteverted nares |
OMIM:614961 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Pulmonic stenosis, Atrioventricular canal defect |
OMIM:619123 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Ataxia, Cachexia, Mediastinal lymphadenopathy, Splenomegaly, Abnormal... |
ORPHA:3452 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Weight loss, Lymphocy... |
ORPHA:514 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Ventriculomegaly, Short nose |
OMIM:615851 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aciduria, ... |
OMIM:203700 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Prominent nose, Gingival overgrowth, Macro... |
ORPHA:96191 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Growth delay, ... |
ORPHA:95427 |
| Walker-Warburg Syndrome |
|
Ventriculomegaly, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvula, Dandy-Wa... |
ORPHA:899 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Hepatomegaly, Ataxia,... |
ORPHA:1454 |
| Congenital Myopathy 22A, Classic |
|
Dental crowding, Wide nasal bridge, Normal pressure hydrocephalus, High palate, Neonatal death, O... |
OMIM:620351 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Cleft soft palate,... |
OMIM:615582 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypotonia, Renal tubular dysfunction, Hypertonia,... |
OMIM:616539 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
| Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge, Triangular mouth, Dandy-Walker malformation |
OMIM:617988 |
| Cohen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Macrodontia,... |
ORPHA:193 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Geleophysic Dysplasia 1 |
|
Hepatomegaly, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Wide mouth, Aortic valve ste... |
OMIM:231050 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Periodic paralysis, Weight loss |
OMIM:188580 |
| Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decereb... |
ORPHA:206436 |
| Gapo Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, High, narrow palate, Thick lower lip verm... |
OMIM:230740 |
| Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Thin vermilion border, Narrow m... |
OMIM:616007 |
| 7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Broad nasal tip, Dia... |
ORPHA:96121 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Hemolytic anemia, Abnormal eosinophil morphology, Recurrent intrapulmonary hemorr... |
ORPHA:906 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus |
ORPHA:2318 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Situs inversus totalis, Anosmia, Chronic rhinitis |
OMIM:244400 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Hydrocephalus,... |
ORPHA:2461 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Chronic hepa... |
ORPHA:3260 |
| Mosaic Trisomy 1 |
|
Ventricular septal defect, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal bridge, ... |
ORPHA:1692 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose... |
ORPHA:508533 |
| Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f... |
OMIM:601358 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dystonia, Laryngeal ... |
ORPHA:2388 |
| Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Ventricular septal defect, Anteverted nares |
ORPHA:1488 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Pierre-Robin sequence... |
OMIM:616145 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
| Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypotonia, Weight loss, Abnorma... |
ORPHA:732 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia,... |
ORPHA:508542 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Ventricular septal defect, Cleft palate, Intrauterine growth retardation |
OMIM:611812 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Dextrocardia |
|
Intestinal malrotation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal heart morph... |
ORPHA:1666 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Depressed nasal bridge, Long philtrum |
OMIM:617895 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Hydrocephalus, Downturned corners of mouth, Intrauteri... |
OMIM:619321 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Wide nasal bridge, Submucous cleft soft palate, Intrauterine... |
ORPHA:2282 |
| Zellweger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Malabsorption, Pyloric stenosis,... |
ORPHA:912 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glom... |
ORPHA:289390 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis |
OMIM:618699 |
| Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Long nose, Short philtrum, Atrial septal defect, Intraut... |
ORPHA:52 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, Cleft palate, Cardiomyopathy, Intrauterine growth retardation |
ORPHA:158687 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Ventricular septal defect, Depressed nasal bridge, Wide nasal bridge, Low ha... |
OMIM:620073 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Narrow mouth, Microdontia, Short nose, Dandy-Walker mal... |
ORPHA:2719 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Open mouth, Ventricular septal defect, Short philtrum |
OMIM:301039 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,... |
OMIM:603041 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Microglossia, Cleft palate, Hydranencephaly, Thick anterior alveolar... |
ORPHA:2839 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Abnormal circulating creatin... |
ORPHA:440437 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Short Stature-Micrognathia Syndrome |
|
High palate, Ventricular septal defect, Cleft palate, Intrauterine growth retardation |
OMIM:617164 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short stature, Cachexia, Tremor, Obesity, Hypogonadism, Decreased testicular... |
ORPHA:85293 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of th... |
ORPHA:646 |
| Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s... |
OMIM:109400 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Atrial septal defect, Volvulus, Tetralogy of F... |
ORPHA:2970 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Enlarged kidney, Abnormal heart morphology, Hepatosplenomegaly, Macroglossia, Thic... |
ORPHA:505248 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Cleft lip, Wide nasal b... |
ORPHA:97297 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Short stature |
OMIM:146350 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Open bite, Deep philtrum, Wide mouth, High palate, Ever... |
ORPHA:1974 |
| Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... |
ORPHA:91347 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Depressed nasal br... |
OMIM:219000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Hydrocephalus, Bulbous nose, Dandy-Walker malformation, Ventriculomegaly |
OMIM:618476 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Short stature, Miscarriage, Hypogonadotropic hypogonadism, Renal salt wasting, Abno... |
ORPHA:90794 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Tremor, Thrombocytopenia, Abnormal pyramidal... |
OMIM:612199 |
| Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Bulbous nose, Dental malocclusion, Wide nasal bridge, Concave nasal ri... |
OMIM:606232 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Recurrent upper respi... |
OMIM:253220 |
| Fatal Familial Insomnia |
|
Urinary retention, Myoclonus, Ataxia, Weight loss |
OMIM:600072 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Ventric... |
OMIM:249000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Narrow mouth, Wide nasal br... |
OMIM:300998 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Wide nasal bridge, Cleft palate, De... |
OMIM:614083 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Lymphadenopathy |
ORPHA:142 |
| Deeah Syndrome |
|
Hepatomegaly, Malabsorption, Narrow palate, Intrauterine growth retardation, Extra-axial cerebros... |
OMIM:619004 |
| Opsismodysplasia |
|
Splenomegaly, Hepatomegaly, Short nose, Depressed nasal bridge |
ORPHA:2746 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,... |
OMIM:236680 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth phil... |
OMIM:617527 |
| Carpenter Syndrome 1 |
|
Depressed nasal bridge, Ventricular septal defect, Persistence of primary teeth, Spina bifida occ... |
OMIM:201000 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia, Anemia |
ORPHA:2930 |
| Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Cleft upper lip, Wide nasal bridge, Gingival overgrowth, Microdontia... |
OMIM:213980 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Depressed nasal bridge, Bicuspid aortic valve, Pr... |
OMIM:612289 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Ventriculomegaly, Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth phil... |
ORPHA:521426 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Exaggerated cupid's bow, Narrow nasal ridge, Aqueductal stenosis, Narrow mouth, Bulbous nose, Hyd... |
OMIM:619512 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:256550 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Colpocephaly, Atrial septal defect, Intrauterine growth retardation, P... |
OMIM:609053 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial cleft, Spina... |
ORPHA:63259 |
| African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Abnormal central motor function, Miscarriage, Urinary incontin... |
ORPHA:3385 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Anteriorly placed anus, Atrial septal defect, Tetralogy of Fallot, Bif... |
OMIM:617159 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Hypercalcemi... |
ORPHA:199299 |
| Spondylo-Ocular Syndrome |
|
Thin vermilion border, Ventricular septal defect, Long philtrum |
ORPHA:85194 |
| 22Q11.2 Deletion Syndrome |
|
Short philtrum, Atrial septal defect, Abnormal dental enamel morphology, Spina bifida, Wide nasal... |
ORPHA:567 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Coffin-Lowry Syndrome |
|
Wide nose, Ventriculomegaly, Anteverted nares, Rectal prolapse, Thick lower lip vermilion, Dental... |
OMIM:303600 |
| Achondroplasia |
|
Depressed nasal bridge, Short nasal bridge, Anteverted nares, Hydrocephalus |
ORPHA:15 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:277440 |
| Lathosterolosis |
|
Anteverted nares, Myelomeningocele, Wide nasal bridge, Gingival overgrowth, Hepatosplenomegaly, T... |
OMIM:607330 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Miscarriage, Glomerulonephritis, Elevated circulating C-reactive pro... |
ORPHA:1304 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Abnormality of the dentition, Cleft ... |
ORPHA:363611 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Wide nasa... |
OMIM:609460 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Megarectum, Hypodontia, Pulmonic stenosis, Intrauterine ... |
OMIM:301056 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thr... |
ORPHA:71493 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Hajdu-Cheney Syndrome |
|
Wide nose, Ventricular septal defect, Anteverted nares, Intestinal malrotation, Hydrocephalus, De... |
OMIM:102500 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hydrocephal... |
OMIM:101800 |
| Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Hypertonia, Intention tremor, Hepatomegaly, Ataxia... |
ORPHA:191 |
| Tetrasomy 9P |
|
Pericarditis, Median cleft lip and palate, Dental crowding, Dextrocardia, Abnormal dental enamel ... |
ORPHA:3310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Ventriculomegaly |
OMIM:613150 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Urinary urgency, Bradykinesia, Dystonia |
OMIM:168600 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal liver sonography, Biliary tract ab... |
ORPHA:90003 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Hydrocephalus, High palate, Allergic rhinitis |
OMIM:618162 |
| Peters Plus Syndrome |
|
Bicuspid pulmonary valve, Widely spaced teeth, Spina bifida occulta, Intestinal fistula, Depresse... |
ORPHA:709 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of reproductive system physiology, Increased body w... |
ORPHA:1501 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
| Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss |
OMIM:275000 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Ventriculom... |
OMIM:617866 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose |
OMIM:618087 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Autosomal Dominant Robinow Syndrome |
|
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Open bite, High... |
ORPHA:3107 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Reduced C-peptide level, Weight loss, Neoplasm of th... |
ORPHA:2126 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin seque... |
OMIM:614921 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Tented upper lip vermilion, Dental crowding, Wide nasal bridge, Triangular mouth, H... |
OMIM:620369 |
| Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge, Cleft... |
OMIM:616835 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o... |
OMIM:617099 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Cleft upper lip, Aquedu... |
OMIM:154400 |
| Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:113000 |
| Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Abnormality of the dentition, Wid... |
OMIM:601088 |
| Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
| Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic ... |
ORPHA:284 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth... |
OMIM:200600 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:619909 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Abnormality of body weig... |
ORPHA:2298 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
| 2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Bulbous nose, Deep philtrum, Cleft palate, Downturned corners of mouth... |
ORPHA:251014 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Deep p... |
OMIM:617506 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Anteverted nares, Dental malocclusion, Wide nasal bridge, Alveolar rid... |
ORPHA:444072 |
| Phocomelia, Schinzel Type |
|
High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Intrauterine growth re... |
ORPHA:2879 |
| Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Br... |
OMIM:249420 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Short nose, Long ph... |
OMIM:601353 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Depressed nasal brid... |
OMIM:180700 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus, Low hanging columella, Wide nasal bridge, Broad nasal tip |
OMIM:620155 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
| Methylcobalamin Deficiency Type Cble |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
| Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
| Vici Syndrome |
|
Lymphopenia, Recurrent respiratory infections, Failure to thrive, Postnatal growth retardation, L... |
OMIM:242840 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... |
OMIM:617713 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... |
OMIM:265380 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Wide nose, Villous atrophy, Anteverted nares, Ventricular septal defect, Splenomega... |
OMIM:222470 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hepatomegaly, Hydrocephalus, Splenomegaly |
OMIM:259700 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Prominent nose |
OMIM:617516 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Anteverted nares, Ventricular septal defect, Cleft upper lip, High, narrow palate, ... |
ORPHA:373 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Ventricular septal defect, Cari... |
OMIM:619229 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Elevated circu... |
ORPHA:94093 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Wide nose, Cardiomegaly, Abnormal columella morphology, High palate, Narrow mouth, Broad philtrum |
ORPHA:2463 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule mor... |
ORPHA:188 |
| Mogs-Cdg |
|
Hepatomegaly, Wide nose, Cardiomegaly, Hepatosplenomegaly, High palate, Atrial septal defect, Lef... |
ORPHA:79330 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Carious teeth, Hydrocephalus, Mitral valve prolapse, Hi... |
ORPHA:536467 |
| Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper respiratory t... |
ORPHA:51636 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Oligoarthritis, Cholangitis |
OMIM:614204 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Hypopl... |
ORPHA:2473 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Eosinophilia, Hemiplegia/hemiparesis, Weight lo... |
ORPHA:183 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Deep philtrum, Dental malocclusion, Narrow palate, Wide... |
OMIM:227330 |
| Mucolipidosis Type Ii |
|
Axial hypotonia, Short stature, Postnatal growth retardation, Splenomegaly, Hepatosplenomegaly, W... |
ORPHA:576 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Hepatitis, Lymphadenopathy, Weight loss, Tubulointerstitial ne... |
ORPHA:139402 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Cleft palate, Mitr... |
OMIM:601776 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Dental crowding, High, narrow palate, Meningocele, High palate, Smooth... |
ORPHA:2789 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Cleft palate |
OMIM:224400 |
| Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Pulmonary valv... |
ORPHA:96129 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Increased size ... |
ORPHA:457395 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Atrial septal defect, Exaggerated median tongue furrow, Hepatomegaly, Depressed nasal bridge, Ant... |
OMIM:312870 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose |
OMIM:256600 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border |
OMIM:616723 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... |
ORPHA:449400 |
| Codas Syndrome |
|
Delayed eruption of teeth, Ventriculomegaly, Ventricular septal defect, Depressed nasal bridge, A... |
OMIM:600373 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Abnormality of the dentition, Malabsorption, Splenomegal... |
ORPHA:581 |
| Neu-Laxova Syndrome 1 |
|
Wide nose, Hydranencephaly, Ventricular septal defect, Ventriculomegaly, Spina bifida, Swollen li... |
OMIM:256520 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Esophageal varix, Tetralogy of... |
ORPHA:974 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Tracheoesophageal fistula, Gingival overgrowth, Abnormal intestine morphology, Ana... |
ORPHA:1834 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Prominent nasal bridge, Abnormal pulmonary valve morphology, Broad nas... |
ORPHA:268261 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept... |
ORPHA:392 |
| Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Anteverted nares,... |
OMIM:122470 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Depressed nasal bridge, Hydrocephalus, High palate |
OMIM:608091 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Depressed nasal bridge, Carious teeth, Splenomegaly, Hyd... |
OMIM:253200 |
| Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:235200 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Gingival overgrowth, Hepatosplenomegaly, Stillbirth, L... |
OMIM:259720 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Holoprosencephaly, Atrial septal defect, Bifid uvula, Dandy-Walker malformation,... |
OMIM:270400 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventriculomegaly, Anteverted nares, Choanal atresia, Ventricular septal defect, Cleft lip, Bulbou... |
OMIM:616975 |
| H Syndrome |
|
Malabsorption, Cleft upper lip, Recurrent pharyngitis, Hydrocephalus, Gingival overgrowth, Hepato... |
ORPHA:168569 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Wide nose, Stillbirth, Convex nasal ridge |
OMIM:617667 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyp... |
ORPHA:1901 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Depressed nasal bridge |
OMIM:618325 |
| Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Severe short stature, Proteinuria, Small for gestational age, ... |
OMIM:133540 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Death in infancy, Short stature, Proteinuria, Elevated circulating C-... |
ORPHA:355 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Prominent nasal bridge, Ventricular septal defect, Underdeveloped nasal al... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Prominent nasal bridge, Ventricular septal defect, Underdeveloped nasal al... |
ORPHA:363958 |
| Flynn-Aird Syndrome |
|
Ataxia, Cachexia |
ORPHA:2047 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
| Microlissencephaly-Micromelia Syndrome |
|
Short nose, Long philtrum |
ORPHA:50810 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... |
OMIM:619573 |
| Meckel Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Hydrocephalus, Depressed... |
ORPHA:564 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Osteoporosis, Weight loss, Growth delay, Iron deficiency anemia, Exocrine ... |
ORPHA:309031 |
| Degcags Syndrome |
|
Prominent nose, High palate, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Anteverted... |
OMIM:619488 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Depressed nasal bridge, Cardiomegaly, Lip telangiectasia, Thic... |
ORPHA:79280 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Wide nas... |
OMIM:618188 |
| Mend Syndrome |
|
Prominent nasal bridge, Bulbous nose, Hydrocephalus, High palate, Aortic valve stenosis, Dandy-Wa... |
OMIM:300960 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Short stature, Small for gestatio... |
ORPHA:99843 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Narrow mouth, Bulbous nose, Th... |
OMIM:309590 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Decreased CSF copper concentration, Increased CSF lactate, Ventriculomegaly, Cardiomegaly |
OMIM:620306 |
| Knobloch Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Dextrocardia, Pyloric stenosis, Hydrocephalus |
ORPHA:1571 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Anteverted nares, Hydrocephalus, Dental malocclusion, Narrow palate, Mitral valve prolapse, High ... |
OMIM:182212 |
| Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... |
OMIM:618332 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Depressed nasal bridge, Ventricular septal defect, Cleft... |
OMIM:280000 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Atelosteogenesis, Type I |
|
Encephalocele, Depressed nasal bridge, Cleft palate, Stillbirth, Neonatal death, Short nose |
OMIM:108720 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Abnormality of the dentition, M... |
ORPHA:235 |
| Fryns-Smeets-Thiry Syndrome |
|
Short stature, Hypotonia, Cachexia |
ORPHA:2058 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... |
OMIM:268310 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Narrow philtrum, Th... |
OMIM:601812 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Short stature, Ataxia, Elevated circulating alpha-fetoprotein concen... |
ORPHA:420741 |
| Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Choanal atresia, Cleft palate, Short philtru... |
OMIM:300712 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, Myocarditis, Pyloric stenosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
ORPHA:3342 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Cleft palate, H... |
OMIM:100300 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Bicuspid aortic valve, Ventricular ... |
OMIM:619475 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Broad columella, Underdeveloped nasal... |
ORPHA:166035 |
| Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bulbous nose, Deep philtrum, High palate, Ev... |
OMIM:613884 |
| Fryns Syndrome |
|
Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal defect, Anteverted nare... |
OMIM:229850 |
| Q Fever |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematuria, Lymphaden... |
ORPHA:781 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H... |
ORPHA:171 |
| Tbck-Related Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High, narrow palate, Bulbous nose, Wide na... |
ORPHA:488632 |
| Yunis-Varon Syndrome |
|
Narrow nasal base, Anteverted nares, Ventricular septal defect, Premature loss of primary teeth, ... |
ORPHA:3472 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate |
ORPHA:137675 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Cleft palate, Ab... |
ORPHA:220386 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa... |
ORPHA:109 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Cleft palate, Ab... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Cleft palate, Ab... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Cleft palate, Ab... |
ORPHA:93924 |
| Fanconi Anemia |
|
Meckel diverticulum, Ventriculomegaly, Aganglionic megacolon, Choanal atresia, Spina bifida, Apla... |
ORPHA:84 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... |
ORPHA:828 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge,... |
ORPHA:466791 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
| Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malfo... |
ORPHA:722 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, High palate, Pulmonic stenosis... |
OMIM:616564 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
| Smith-Lemli-Opitz Syndrome |
|
Holoprosencephaly, Atrial septal defect, Advanced eruption of teeth, Atrioventricular canal defec... |
ORPHA:818 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Long nose, Deep philtrum, Gingival overgrowth, Macroglossia, Widely s... |
OMIM:618143 |
| Feingold Syndrome 1 |
|
Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Jejunal atresia, Esophageal atre... |
OMIM:164280 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Dilatation of the renal pelvis, Bronchiectasis, Knee flexion contracture,... |
OMIM:619708 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Hydrocephalus, Depressed nasal bridge |
OMIM:616482 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Spa... |
ORPHA:2072 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:434179 |
| Neurooculorenal Syndrome |
|
Ventriculomegaly, Dextrocardia, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Mitra... |
OMIM:620305 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Prominent nose, Bulbous nose, Narrow philt... |
OMIM:619268 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Abnormality of the dentition, Convex nasal ridge, Narrow mouth |
ORPHA:90154 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus |
OMIM:187600 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Cleft upper lip, Hydrocephalus, Malrotation of small bowel, Wide nasal... |
OMIM:194190 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Tooth malposition, Narrow palate, Pulmonic ste... |
OMIM:277600 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
| Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Narrow m... |
ORPHA:261112 |
| Giant Cell Arteritis |
|
Renal insufficiency, Ataxia, Mediastinal lymphadenopathy, Weight loss, Hematuria |
ORPHA:397 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Hydrocephalus, Cleft palate, Depressed nasal tip, Stillbirth, High palate, N... |
OMIM:208150 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Rob... |
OMIM:117650 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Proteinuria, Pancytopenia, Stiff neck, Diffuse al... |
ORPHA:99827 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Abnormality of the den... |
ORPHA:536471 |
| Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Choanal atresia, Cleft palate |
OMIM:613309 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
| Tetraamelia Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Hydrocephalus, Single naris, Cleft palate, Anal atresia |
OMIM:273395 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular... |
ORPHA:199 |
| Occipital Horn Syndrome |
|
Osteopenia, Recurrent urinary tract infections, Osteomalacia, Jaundice, Osteoporosis, Hepatitis, ... |
ORPHA:198 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology |
ORPHA:1782 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect |
OMIM:126320 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Wide mouth, High palate, Short nose, Convex nasal ridge |
OMIM:300661 |
| Costello Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Pyloric stenosis, Hydrocepha... |
OMIM:218040 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Intrauterine growth retardation, Communicating hydrocephalus, Abnormal... |
ORPHA:2050 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Dental malocclusion, Mitral valve prolapse, Taurodontia, Macrodontia o... |
OMIM:616202 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Rectal prolapse, Wide... |
OMIM:617157 |
| Omodysplasia 1 |
|
Ventricular septal defect, Depressed nasal bridge, Wide nasal bridge, Long philtrum, Atrial septa... |
OMIM:258315 |
| Kabuki Syndrome 1 |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Abnormality of the dentition, M... |
OMIM:147920 |
| Poems Syndrome |
|
Lymphadenopathy, Weight loss, Hypogonadism, Erectile dysfunction, Thrombocytosis, Ascites, Polycy... |
ORPHA:2905 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Pulmonary hypoplasia, Arthr... |
ORPHA:2671 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Choanal atresia, Complete atrioventricular canal defect... |
OMIM:617063 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Truncus arteriosus, Underdeveloped nasal ala... |
OMIM:134780 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Baller-Gerold Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Cleft palate, Abnormal heart mo... |
OMIM:218600 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Prominent nose, Long nose, Bulbous nose, Submucous cleft hard palate, ... |
ORPHA:3047 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, Choanal atresia, High, narrow palate, Hydrocephalus, Submucous... |
ORPHA:2658 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Dental crowding, Splenomegaly, Bulbous nose, Downturned ... |
OMIM:618268 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Abnormality of the pancreas, Reduced bone mineral density, Lymp... |
ORPHA:935 |
| Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent ... |
ORPHA:488618 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Short stature, Osteomalacia, Fibrous dysplasia of the bo... |
ORPHA:249 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
| Campomelic Dysplasia |
|
Irregular dentition, Depressed nasal bridge, Spina bifida, Carious teeth, Hydrocephalus, Submucou... |
OMIM:114290 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, High palate |
ORPHA:2720 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Broad nasal tip, Abnormality of the gingiva, Ch... |
ORPHA:798 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia, Myoclonus, F... |
OMIM:607459 |
| Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
| Microphthalmia, Syndromic 2 |
|
Oligodontia, Fused teeth, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Persisten... |
OMIM:300166 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio... |
OMIM:600001 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Prominent nasal tip, Short nose, Smooth philtrum |
ORPHA:522077 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, High palate, Atrial sept... |
OMIM:121050 |
| Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... |
ORPHA:185 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Cleft upper lip, Underdeveloped nasal alae, Cleft palate, Oral synechia, Intrauter... |
OMIM:263650 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Depressed nasal bridge, Ventricular septal defect, Underdeveloped nasal alae, Deep philtrum, Doub... |
ORPHA:163956 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Thick vermilion border, Ventricular septal defect, Broad columella, Underdeveloped nasal alae |
OMIM:250410 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
ORPHA:3412 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Abnormal heart morphology,... |
ORPHA:444077 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p... |
OMIM:263520 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Wide nasal bridge, High palate, Long philtrum, Intrauterine growth reta... |
ORPHA:319182 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Homocystinuria |
OMIM:601552 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Anteverted nares, Carious teeth, Thin vermilion border, Smooth tongue, Wide nasal ba... |
OMIM:601559 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial ... |
OMIM:270100 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
| Larsen Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cleft upper lip, Cleft palate, Hypodontia, Atr... |
OMIM:150250 |
| Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Bulbous... |
OMIM:309500 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Depressed nasal bridge, Bicuspid aortic valve, Ventricular septal d... |
OMIM:607872 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
| Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Cleft upper lip, Meningoencephalocele, Hydrocephalus, ... |
OMIM:236670 |
| Renal And Mullerian Duct Hypoplasia |
|
Short nose |
OMIM:266810 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Cleft palate, Long nasal bridge |
OMIM:178110 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Macroglossia, Choanal ... |
OMIM:269150 |
| X Small Rings |
|
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Lon... |
ORPHA:96201 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Supernumerary tooth, Hypoplasia of teeth, Ante... |
OMIM:268400 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Anteverted nares, Ventricular septal defect, Broad nasal tip, Long nose, Carious teeth, Bulbous n... |
OMIM:619522 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:143 |
| Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum |
OMIM:258480 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Anteverted nares, High, narrow palate, Mitral valve prolapse, Abnorm... |
ORPHA:2462 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Enlarged polycystic ovaries, High, narrow palate, Bulbou... |
ORPHA:95699 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Abnormality of the nose, Abnormal heart morphology, Anteriorly placed ... |
ORPHA:1708 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
| Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal conge... |
OMIM:166250 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
| Mgat2-Cdg |
|
Ventricular septal defect, Dental crowding, Abnormal heart morphology, Recurrent upper and lower ... |
ORPHA:79329 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Progressive ventriculomegaly, Ventriculomegaly, Depressed nasal bridge, Submucous cleft soft pala... |
ORPHA:500150 |
| Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Cardiomegaly |
ORPHA:349 |
| Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... |
ORPHA:308552 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Splenomegaly, Wide nasal bridge,... |
OMIM:619418 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Wide nose, Abnormal heart valve morphology, Abnormal p... |
ORPHA:580 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Short nose, Enlarged kidney |
OMIM:200995 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
| Fucosidosis |
|
Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Thick lower lip verm... |
OMIM:230000 |
| Trichothiodystrophy 1, Photosensitive |
|
Short nose, Triangular mouth, Intestinal obstruction, Malabsorption |
OMIM:601675 |
| Pseudoaminopterin Syndrome |
|
Prominent nasal bridge, Hydrocephalus, Orofacial cleft, High palate, Short philtrum, Microdontia,... |
ORPHA:221120 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, High pal... |
OMIM:605275 |
| Stevens-Johnson Syndrome |
|
Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra... |
ORPHA:36426 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis |
ORPHA:369929 |
| 3Mc Syndrome 1 |
|
Ventricular septal defect, Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Atrial sept... |
OMIM:257920 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Prominent nose, High, narrow palate, High palate, Atrial septal defect, Spina bi... |
OMIM:180849 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect,... |
ORPHA:513456 |
| Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Abnormal dental morphology, Ventricular septal defect, Abnormal dental ename... |
ORPHA:2092 |
| Schwartz-Jampel Syndrome |
|
Death in infancy, Short stature, Elevated circulating creatine kinase concentration, Cachexia, Ab... |
ORPHA:800 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bulbous nose, Short denta... |
OMIM:271510 |
| Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
| Short Syndrome |
|
Severe short stature, Weight loss |
ORPHA:3163 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| C Syndrome |
|
Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Gingival overgrowth, Cleft pal... |
ORPHA:1308 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon... |
OMIM:609192 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Macrodontia, Cleft upper lip, Hydrocephalus, Cleft palate, Thin vermilion... |
ORPHA:1106 |
| Cousin Syndrome |
|
Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microglossia |
OMIM:260660 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anteverted nares, Cardiomegaly, Splenomegaly, Mitral val... |
OMIM:602782 |
| Witteveen-Kolk Syndrome |
|
Thin upper lip vermilion, Wide nose, Ventriculomegaly, Depressed nasal bridge, Prominent nasal br... |
OMIM:613406 |
| Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Anal stenosis, Ventricular septal defect, Choanal atresia, Agang... |
OMIM:607323 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Long philtrum, Short nose |
ORPHA:50945 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, High ... |
ORPHA:363700 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Prominent nose, Deep philtrum, Downturned corners of mouth, High palate, Depress... |
OMIM:619503 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, We... |
ORPHA:35687 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Splenomegaly, Myelopathy, G... |
OMIM:252500 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Hepatosplenomegaly, Colpocep... |
OMIM:614866 |
| Warburg Micro Syndrome 2 |
|
Short nose, Prominent nasal bridge |
OMIM:614225 |
| Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Urethritis, Peritonitis, Hepatit... |
ORPHA:2552 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cleft lip, ... |
OMIM:615948 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... |
ORPHA:99867 |
| Pallister-Hall Syndrome |
|
Natal tooth, Anteverted nares, Choanal atresia, Ventricular septal defect, Accessory oral frenulu... |
ORPHA:672 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concen... |
ORPHA:50918 |
| Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Small, conical teeth, Prominent nasolabial ... |
ORPHA:2962 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Abnormal mitral v... |
ORPHA:1724 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Depressed nasal ridge, Cleft pala... |
OMIM:105650 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Ventricular septal defect, Prominent nose, Muscular ventricular septal defect, ... |
OMIM:210710 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Bab... |
OMIM:234200 |
| Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:153400 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, S... |
ORPHA:508498 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, ... |
OMIM:619841 |
| Proboscis Lateralis |
|
Ventricular septal defect, Choanal atresia, Proboscis, Agenesis of canine, Single naris, Orofacia... |
ORPHA:141099 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Coronary artery fistula, Neonatal death, Atrial septal defect, Ventric... |
OMIM:620024 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... |
ORPHA:3097 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus |
ORPHA:65285 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no... |
OMIM:272460 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:600460 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Decreased fert... |
ORPHA:60025 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... |
ORPHA:371428 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Severe short stature, Abnormality of the ... |
ORPHA:2636 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
| Achondroplasia |
|
Depressed nasal bridge, Choanal stenosis, Hydrocephalus |
OMIM:100800 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
| Coffin-Siris Syndrome 12 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Celi... |
OMIM:619325 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Epistaxis, Abnormal heart morphology |
ORPHA:137667 |
| Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Hemifacial spasm, A... |
ORPHA:466677 |
| Arboleda-Tham Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Intestinal malrotati... |
OMIM:616268 |
| Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Choanal atresia, Intestinal malrotation, Cleft lip,... |
ORPHA:1199 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Premature loss of p... |
ORPHA:667 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hydrocephalus, Hepatomegaly |
ORPHA:157 |
| Functioning Gonadotropic Adenoma |
|
Enlarged polycystic ovaries, Hydrocephalus |
ORPHA:91348 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
| Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Open mouth, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614653 |
| Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Atrial septal defect, Microdontia, Spina bi... |
ORPHA:904 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Spina bifida occul... |
OMIM:135900 |
| Myhre Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Pericardial effusion... |
OMIM:139210 |
| Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase ... |
ORPHA:99829 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nose, Abnormal dental enamel morphology, Hydrocephalus, Dilated cardiomyopathy, Wide nasal b... |
ORPHA:2556 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
U-Shaped upper lip vermilion, Wide nasal bridge, Thin vermilion border, High palate, Total anomal... |
OMIM:609945 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Short stature, Cachexia, Spasticity |
ORPHA:220295 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
| Wiedemann-Rautenstrauch Syndrome |
|
Smooth philtrum, Natal tooth, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares... |
OMIM:264090 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Su... |
OMIM:235730 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
| Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Broad nasal tip, Low hanging columella, Wide... |
OMIM:618846 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, Broad nasal tip, Wide nasal bridge, High pal... |
OMIM:620330 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:97287 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate |
ORPHA:300570 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Colpocephaly, Holoprosencephaly, Long ... |
OMIM:618820 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... |
ORPHA:48435 |
| Penile Agenesis |
|
Ventricular septal defect, Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Atr... |
ORPHA:49 |
| 1P21.3 Microdeletion Syndrome |
|
Wide mouth, Short nose, Broad nasal tip |
ORPHA:293948 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Open mouth, Anteverted nares, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Atrial septal defect, Microdontia, Depressed nasal bridge... |
OMIM:194050 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
| Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Depressed nasal bridge, Tooth malposition, Narrow palate, High palate,... |
OMIM:608328 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Hypogonadism, Delaye... |
ORPHA:1328 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... |
OMIM:617478 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Bilateral cleft lip,... |
OMIM:261540 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Cockayne Syndrome A |
|
Slender nose, Hepatomegaly, Delayed eruption of primary teeth, Prominent nose, Carious teeth, Spl... |
OMIM:216400 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Delayed eruption of teeth, Abnormality of dental color, Intestin... |
ORPHA:666 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Narrow nasal tip, Prominent nasal bridge, Pyloric stenosis, Intrauteri... |
ORPHA:464306 |
| Oculopharyngodistal Myopathy 1 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Convex nasal ridge, Long philtrum |
OMIM:123700 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Ventricular septal defect, Bulbous nose, Muscular ventricular septal defect, Dy... |
OMIM:157800 |
| Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Ataxia, Orchitis, Splenomegaly, Abnormal pyramidal sign, Lym... |
ORPHA:117 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Wide mouth, Ventricular septal defect, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, High palate |
ORPHA:58 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Oligoarthritis, Chronic lymphatic leukemia, A... |
ORPHA:3243 |
| Cushing Disease |
|
Increased urinary cortisol level, Leukocytosis, Osteoporosis, Increased body weight, Truncal obes... |
ORPHA:96253 |
| Diamond-Blackfan Anemia |
|
Ventricular septal defect, Depressed nasal bridge, Cleft soft palate, Cleft lip, Wide nasal bridg... |
ORPHA:124 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Depressed nasal bridge |
OMIM:615503 |
| Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
| Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Failure to thrive in infancy, Osteomalacia, Hepatic calcification, Nephrocalci... |
ORPHA:51608 |
| Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Weight loss |
ORPHA:221098 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Weight loss, Neutrope... |
ORPHA:537 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Cleft upper lip, Hydrocephalus, Frontal enc... |
OMIM:268300 |
| Trichothiodystrophy |
|
Ventricular septal defect, Carious teeth, High, narrow palate, Cardiomyopathy, Intrauterine growt... |
ORPHA:33364 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Prominent nasal bridge, Intrauterine growth retardation, Aortic valve ... |
ORPHA:464311 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Long p... |
OMIM:619727 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, High palate, Prominent nasal bridge, Ventriculomegaly |
OMIM:617011 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Short nose, Anteverted nares |
ORPHA:3339 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Short nose |
OMIM:614863 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97278 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97282 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Renal insufficiency, Weight loss, Neutropenia |
ORPHA:79430 |
| Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hypodontia, Atrial septal defect, ... |
ORPHA:209905 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot... |
ORPHA:353281 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| 8Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Ventricular septal defect, Broad nasal tip, Complete ... |
ORPHA:508488 |
| Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac diseas... |
OMIM:301068 |
| Pyomyositis |
|
Leukocytosis, Renal insufficiency, Testicular teratoma, Weight loss |
ORPHA:764 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Patent foramen ovale, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Patent foramen ovale, ... |
ORPHA:353277 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the t... |
ORPHA:99889 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Short stature, Cachexia, Hypoalbuminemia, Generalized hypotonia, Anemia |
ORPHA:79076 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97283 |
| Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Intestinal malrotation, Broad nas... |
OMIM:305600 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... |
ORPHA:97261 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Increased CSF lactate |
OMIM:614947 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atre... |
OMIM:192350 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
| Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Abnormal heart morphology |
OMIM:227646 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Anteverted nares, Wide nasal ridge, Abnormality of the den... |
ORPHA:3455 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Gingival overgrowth |
ORPHA:3205 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Ventricular septal defect, Anteverted nares, Spina bifida, Cleft palate, Hep... |
OMIM:274000 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Macroglossia, Splenomegaly, Cardiomegaly |
OMIM:232300 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ve... |
ORPHA:96334 |
| Coccidioidomycosis |
|
Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, In... |
ORPHA:228123 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Ectopic anus, Hypodontia, Anal atresia |
ORPHA:3138 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ... |
ORPHA:97280 |
| Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100075 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... |
OMIM:618748 |
| Sponastrime Dysplasia |
|
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Hypoplasia of the... |
ORPHA:93357 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Choanal atresia, Hydrocephalus, ... |
OMIM:107480 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Anteriorly placed anus, Atrial septal defect, Bifid uvula, Depressed ... |
OMIM:601803 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Wide nose, Anal stenosis, Ventricular septal defect, Prominent nasal b... |
OMIM:606170 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Ventriculomegaly |
OMIM:618278 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Splenomegaly, Supe... |
OMIM:619525 |
| Keutel Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose, Deep philt... |
OMIM:245150 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Depressed nasal bridge, Hepatosplenomegaly, Macroglossia, Widely spa... |
ORPHA:309282 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Wide nasal ridge, Narrow mouth, Dilatation o... |
ORPHA:459070 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Chronic CSF lymphocytosis, Hepatosplenomegaly, Increased CSF interferon alpha, Hype... |
ORPHA:51 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... |
OMIM:607721 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft palate |
ORPHA:1934 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon... |
OMIM:610168 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, High palate, Long philtrum, S... |
OMIM:271665 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Hypercalciuria, Nephrolithiasis, Thymoma, We... |
ORPHA:652 |
| Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Hypercalcemia, Portal hypertension, Eosinoph... |
ORPHA:797 |
| Craniopharyngioma |
|
Hydrocephalus, Abnormal nasal bone morphology |
ORPHA:54595 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intrau... |
ORPHA:436252 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate, Long philtrum, Atria... |
OMIM:271640 |
| Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Hydronephrosis |
ORPHA:100078 |
| Otopalatodigital Syndrome, Type Ii |
|
Depressed nasal bridge, Spina bifida, Hydrocephalus, Cleft palate, Stillbirth, Narrow mouth, Atri... |
OMIM:304120 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Hepatosplenomegaly |
ORPHA:168577 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy |
ORPHA:52417 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:142900 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, High palate, Prominent nasal bridge, Ventriculomegaly |
ORPHA:457359 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Delayed eruption of teeth, Ventricular septal defect, Mitral stenosis, T... |
OMIM:143095 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph... |
OMIM:301074 |
| Acromesomelic Dysplasia 1 |
|
Short nose |
OMIM:602875 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:913 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy, Dandy-Walker ma... |
OMIM:130650 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Pollakisu... |
ORPHA:647 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Bulbous n... |
OMIM:616682 |
| Renal Agenesis |
|
Ventricular septal defect, Anal atresia |
ORPHA:411709 |
| Rat-Bite Fever |
|
Abdominal aseptic abscess, Lymphadenitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
| Alagille Syndrome 1 |
|
Depressed nasal bridge, Ventricular septal defect, Long nose, Bulbous nose, Concave nasal ridge, ... |
OMIM:118450 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Atrial septal ... |
OMIM:619472 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
| Phace Association |
|
Ventricular septal defect, Dandy-Walker malformation |
OMIM:606519 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... |
ORPHA:99050 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... |
ORPHA:365 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
| Charge Syndrome |
|
Anal stenosis, Overriding aorta, Ventricular septal defect, Choanal atresia, Cleft upper lip, Sec... |
OMIM:214800 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Short nasal bridge, Everted lower lip vermilion, Ventriculomegaly |
OMIM:253280 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Hypotonia, Weight loss |
ORPHA:2020 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, High, narrow palate, Dental malocclusion, Cleft palate, High palate, P... |
OMIM:163950 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Underdeveloped nasal alae, Situs in... |
OMIM:243800 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Prominent nose, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:256040 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:227645 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium |
ORPHA:538 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Short philtrum, Bifid uvula, Abnormal ... |
ORPHA:261552 |
| Meningioma |
|
Hydrocephalus, Neoplasm of the tongue, Abnormality of the sense of smell |
ORPHA:2495 |
| Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Thick vermilion border, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno... |
ORPHA:141127 |
| Oeis Complex |
|
Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis... |
OMIM:258040 |
| Abetalipoproteinemia |
|
Hepatomegaly, Fat malabsorption, Steatorrhea, Cardiomegaly |
ORPHA:14 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Bulbous nose, Ventricular septal defect, Aortopulmonary window |
OMIM:620025 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Digeorge Syndrome |
|
Ventricular septal defect, High, narrow palate, Splenomegaly, Cleft palate, High palate, Short ph... |
OMIM:188400 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cleft palate, Wide mouth, Macroglossia, Large intestina... |
ORPHA:116 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Hypotonia, Weight loss |
ORPHA:221 |
| Norrie Disease |
|
Clonus, Cachexia, Cryptorchidism, Hypotonia, Hypertonia, Erectile dysfunction, Delayed puberty, F... |
ORPHA:649 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Weight loss, Lymphadenopathy, Tubulointerstitial nephritis, Thrombocyto... |
ORPHA:79078 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... |
OMIM:182250 |
| Reactive Arthritis |
|
Recurrent urinary tract infections, Weight loss |
ORPHA:29207 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia |
ORPHA:322 |
| Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... |
ORPHA:744 |
| Marfan Syndrome |
|
Meningocele, Slender build, Hypotonia, Cachexia |
ORPHA:558 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Cleft upper lip, Hydrocephalus, Cleft palate,... |
OMIM:164210 |
| Nocardiosis |
|
Lymphadenitis, Peritonitis, Liver abscess, Weight loss |
ORPHA:31204 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Short nose, Narrow nasal ridge, Narrow mouth |
OMIM:606721 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Delayed menarche, Female hypogonadism, Weight loss |
ORPHA:740 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Abnormal palate morphology |
ORPHA:3042 |
| Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Ventricular septal defect |
OMIM:206900 |
| Chronic Graft Versus Host Disease |
|
Pancytopenia, Phimosis, Urinary bladder inflammation, Weight loss, Hematuria, Ascites |
ORPHA:99921 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Subependymal nodules |
ORPHA:805 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Deep philtrum, Abnormal heart morphology, Pulmo... |
ORPHA:438213 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacter... |
ORPHA:97214 |
| Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Premature loss of primary ... |
OMIM:216340 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
| Ulnar-Mammary Syndrome |
|
Anal stenosis, Ventricular septal defect, Pyloric stenosis, Hypodontia, Anal atresia |
OMIM:181450 |
| Sotos Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Abnormality of the dentition, No permanent dent... |
ORPHA:821 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
