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Gene: Igf2bp1 MGI:1890357

Gene Summary

Name:

insulin-like growth factor 2 mRNA binding protein 1

Synonyms:

D030026A21Rik, D11Moh40e, Zbp1, IMP1, IMP-1, Crdbp, CRD-BP, D11Moh45

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
hyperactivity	Igf2bp1^em1(IMPC)J	HET	Early adult	4.88×10^-06
decreased thigmotaxis	Igf2bp1^em1(IMPC)J	HET	Early adult	7.90×10^-05
decreased locomotor activity	Igf2bp1^em1(IMPC)J	HET	Early adult	5.87×10^-05
abnormal behavior	Igf2bp1^em1(IMPC)J	HET	Early adult	7.90×10^-05
preweaning lethality, complete penetrance	Igf2bp1^em1(IMPC)J	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electroretinography 3

Fundus file

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Human diseases caused by Igf2bp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Igf2bp1 (0 diseases)
Human diseases predicted to be associated with Igf2bp1 (1398 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Igf2bp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Schizophrenia 15	Hyperactivity	OMIM:613950
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Villous atrophy, Dehydration, Growth delay, Abnormal intestine morphology	OMIM:251850
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas...	ORPHA:3032
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Cystinosis	Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Malabsorption, Dehydration,...	ORPHA:213
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Edema, Renal cyst, Steatorrhea, Death in childhood, Proximal tubul...	OMIM:602579
Cach Syndrome	Decreased fetal movement, Flexion contracture, Renal hypoplasia, Dysmetria, Hepatosplenomegaly, G...	ORPHA:135
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Premature birth, Depressed nasal bridge...	OMIM:614602
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Dehydration, Weight loss, Leukopenia, Failure to thriv...	ORPHA:33355
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Anorexia, Hydrops fetalis, Dehydration, Reticulocytopenia,...	OMIM:557000
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M...	ORPHA:84081
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
17Q21.31 Microduplication Syndrome	Anteverted nares, High palate, Attention deficit hyperactivity disorder, Compulsive behaviors, Sh...	ORPHA:217340
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Dehydration, Dysphagia, Intrauterine...	OMIM:618958
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Lactase Deficiency, Congenital	Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy	OMIM:605899
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia, Enterocolitis, Fail...	OMIM:616050
Even-Plus Syndrome	Recurrent urinary tract infections, Severe short stature, Bifid nasal tip, Depressed nasal ridge,...	OMIM:616854
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Thrombocytopenia, Dehydration, Choreoa...	ORPHA:79312
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia	OMIM:613217
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Choanal ...	ORPHA:92050
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Penile freckling, Attention deficit hyperactivity d...	ORPHA:210548
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Wide nose, Short stature, Intestinal malrotation, Prominent nasal bridge...	ORPHA:94063
Chronic Hiccup	Abnormal eating behavior, Dehydration, Depression, Weight loss, Abnormality of the diaphragm	ORPHA:396
Hadziselimovic Syndrome	Short stature, Anteverted nares, Prominent nasal bridge, Renal hypoplasia, High palate, Failure t...	OMIM:612946
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, ...	ORPHA:85284
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Wide nasal bridge, Dysphagia, Intrauterine growth retardation, Hypoplastic spleen	ORPHA:89844
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Edema, Increased stool alpha1-antitrypsin concentration, Perica...	ORPHA:90362
Emanuel Syndrome	Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Joint contracture, Micrope...	OMIM:609029
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Micro...	OMIM:619377
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overhanging nasal tip, Unilateral renal agenesis, High, narrow palate, Increased nuchal transluce...	OMIM:618494
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Dehydration, Macroglossia, Abnormality of t...	ORPHA:99886
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Lactose Intolerance, Adult Type	Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223100
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Bifid uvula, Hepatomega...	OMIM:222470
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Depressed n...	OMIM:264470
Verheij Syndrome	Branchial cyst, Short stature, Small for gestational age, Renal agenesis, Anteverted nares, Broad...	OMIM:615583
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Edema, Flexion contracture, Renal cyst, Dysmetria, Abnormality of the amniotic f...	OMIM:212065
Diarrhea 9	Villous atrophy, Failure to thrive	OMIM:618168
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Short stature, Unilateral renal agenesis, Depressed nasal bridge, Chronic kidney dise...	OMIM:617661
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ...	ORPHA:699
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Failure to thrive, Protein-losing enteropathy	OMIM:615863
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Short stature, Depressed nasal bridge, Miscarriage, Aggressive behav...	OMIM:619695
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni...	OMIM:617784
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Polyhydramnios, Placental a...	OMIM:603467
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,...	OMIM:304790
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorpti...	ORPHA:398063
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Broad nasal tip, Obesity, Enuresis, Self-injur...	OMIM:613670
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypo...	ORPHA:2470
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Dehydration, Lethargy, Failure to thrive, Anemia	ORPHA:28
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Central Diabetes Insipidus	Anorexia, Dehydration, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive, Nocturia	ORPHA:178029
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Emanuel Syndrome	Multiple joint contractures, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflu...	ORPHA:96170
Meier-Gorlin Syndrome 8	Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Decreased body weight, Intra...	OMIM:617564
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Mirage Syndrome	Lymphopenia, Recurrent urinary tract infections, Short stature, Hypospadias, Cryptorchidism, Esop...	OMIM:617053
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Decreased fetal movement, Death in infancy, Edema, Cryptorchidism, Thrombocytopenia...	OMIM:608104
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Polyhydramnios, Renal hypoplasia, Renal cyst...	OMIM:614922
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Depressed nasal bridge, Bulbous nose, Flexion contracture, Wide nasal bridge, Jo...	OMIM:601110
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste...	OMIM:615237
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Small for gestational age,...	OMIM:208085
Adams-Oliver Syndrome 6	Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis	OMIM:616589
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Hypospadias, Postnatal growth retardation, Cryptorchidism, Cleft palat...	ORPHA:397590
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Cleft palate	OMIM:236110
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules	OMIM:619445
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Short stature, Small for gestational age, Postnatal growth retardation, Severe pos...	ORPHA:73272
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Enteric Anendocrinosis	Portal hypertension, Cholestatic liver disease, Dehydration, Malabsorption	ORPHA:83620
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Broad nasal tip, Irritability, Gastroesophageal reflux, Difficulty walking, Joint contracture, Fa...	OMIM:617393
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Extramedullary hem...	ORPHA:79303
Burn-Mckeown Syndrome	Short stature, Choanal atresia, Unilateral renal agenesis, Prominent nasal bridge, Underdeveloped...	OMIM:608572
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Obesity, R...	ORPHA:171839
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Intrauterine gr...	ORPHA:26792
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Marden-Walker Syndrome	Decreased muscle mass, Hypospadias, Anteverted nares, Postnatal growth retardation, High, narrow ...	OMIM:248700
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Short stature, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repeti...	OMIM:617862
Shigellosis	Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Intestinal perforation, Perito...	ORPHA:810
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Small for gestational age, Short stature, Gastritis, Increased mea...	ORPHA:84064
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cyst, Ureteral agenes...	OMIM:236500
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,...	OMIM:209920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Prominent nasal bridge, Anisocytosis, Flexion contracture, Lacticaciduria, Renal hy...	OMIM:604273
Bardet-Biedl Syndrome 19	Renal insufficiency, Obesity, Renal hypoplasia, Hyposmia, Hepatic steatosis, Hydronephrosis	OMIM:615996
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Short stature, Hypospadias, Edema, Malabsorption, Underdev...	ORPHA:2315
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Premature birth, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Abn...	ORPHA:2256
Adrenomyodystrophy	Short stature, Megacystis, Myopathy, Abnormality of the urinary system, Abnormal intestine morpho...	ORPHA:977
Netherton Syndrome	Hypernatremic dehydration, Villous atrophy, Allergic rhinitis, Angioedema, Hypereosinophilia, Chr...	OMIM:256500
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Premature rupture of membranes, Hepatic steatosis, Decreased...	OMIM:619573
Orofaciodigital Syndrome Xvii	Short stature, Prominent nose, High, narrow palate, Renal hypoplasia, Decreased body weight, Micr...	OMIM:617926
Renal Hypoplasia, Bilateral	Short stature, Small for gestational age, Edema, Microscopic hematuria, Proteinuria, Premature bi...	ORPHA:97362
Autosomal Agammaglobulinemia	Malabsorption, Hepatitis, Dehydration, High palate, Neutropenia, Failure to thrive	ORPHA:33110
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Gastroesophageal reflux, Pro...	OMIM:618218
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome...	ORPHA:905
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Dehydration, Chor...	ORPHA:27
Microvillus Inclusion Disease	Villous atrophy, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abno...	ORPHA:2290
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog...	OMIM:611555
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Broad-based gait, Ataxia, Short stature, Inability to walk, Bulbous nose...	OMIM:617695
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly...	OMIM:614700
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocyto...	OMIM:606054
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Lessel-Kubisch Syndrome	Narrow nasal bridge, Renal insufficiency, Short stature, Renal hypoplasia	OMIM:618681
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Decreased muscle mass, ...	ORPHA:298
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Short stature, Ataxia, Unilateral renal agenesis, Ectopic kidney, Long nose, Br...	OMIM:616541
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior	OMIM:620270
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec...	OMIM:606367
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Intrauterine growth retardation, Dehydration	OMIM:601410
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Renal hypoplasia, Tracheoesophageal fistula, Cleft...	OMIM:614083
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Short nose, Short stature, Cleft palate	ORPHA:2015
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hepatomegaly, Hemolytic ...	OMIM:619487
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro...	ORPHA:248111
Gracile Bone Dysplasia	Death in infancy, Failure to thrive, Short stature, Asplenia, Hypoplastic spleen, Micropenis, Asc...	OMIM:602361
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ...	ORPHA:93101
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Intestinal malrotation, Polyhydramnios, Edema, Hamartoma of tongue, Splenomegaly, A...	OMIM:269860
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Distal amyotrophy, Gait disturbance, Hepatic steatosis, Foot dorsi...	OMIM:618400
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, Prominent nose, Bilateral renal hypoplasia, Leukopenia...	OMIM:619488
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Eosinophilia,...	ORPHA:2070
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proport...	OMIM:619510
Xq28 (MECP2) duplication	Depressed nasal bridge, Inability to walk, Functional abnormality of the bladder, Depression, Gai...	DECIPHER:45
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Ab...	ORPHA:247585
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Skelet...	OMIM:614162
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Cryptorchidism, Renal hypoplasia, Truncal ataxia, Gait ...	OMIM:616817
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Bilateral rena...	OMIM:243605
Alg9-Cdg	Villous atrophy, Hydrops fetalis, Gastroesophageal reflux, Bifid uvula, Hepatomegaly, Rhizomelia,...	ORPHA:79328
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Glucose/Galactose Malabsorption	Malabsorption, Failure to thrive, Hypertonic dehydration, Glycosuria	OMIM:606824
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Increased mitochondrial number, Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, Micropenis, Hepatic steatosis,...	OMIM:270400
Netherton Syndrome	Short stature, Ectopic kidney, Malabsorption, Dehydration, Aminoaciduria, Hydronephrosis	ORPHA:634
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Prematur...	ORPHA:567983
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Prominent nasal bridge, Prominent nose, Cryptorchidism, Flexion contra...	OMIM:214150
Meckel Syndrome 12	Anteverted nares, Ureteral hypoplasia, Renal hypoplasia, Wide nasal bridge, Bilateral renal agene...	OMIM:616258
Galloway-Mowat Syndrome 6	Short stature, Proteinuria, Anteverted nares, Decreased response to growth hormone stimulation te...	OMIM:618347
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Inability to walk, Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure ...	ORPHA:70472
3-Methylglutaconic Aciduria, Type V	Diaphragmatic eventration, Hypospadias, Elevated circulating aspartate aminotransferase concentra...	OMIM:610198
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Intestinal perforation, Thrombocytopenia, Peritonitis, Rectal prolapse, ...	ORPHA:90038
3-Methylglutaconic Aciduria, Type Viib	Decreased fetal movement, Rhizomelia, Ataxia, Polyhydramnios, Bulbous nose, Flexion contracture, ...	OMIM:616271
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Dehydration, Weight loss, Nephrocalcinosis, Hypercalciuria, Lethargy, ...	OMIM:143880
Cerebrofacioarticular Syndrome	Anal stenosis, Short stature, Hypospadias, Ataxia, Lymphedema, Bilateral choanal atresia/stenosis...	ORPHA:314679
Microphthalmia, Syndromic 9	Renal malrotation, Diaphragmatic eventration, Severe short stature, Short stature, Congenital dia...	OMIM:601186
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis...	ORPHA:264580
Fraser Syndrome 2	Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa...	OMIM:617666
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Renal cyst, High palate, Ga...	OMIM:122470
Split-Hand/Foot Malformation 3	High palate, Renal hypoplasia, Cleft palate, Camptodactyly	OMIM:246560
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Legg-Calvé-Perthes Disease	Cartilage destruction, Skeletal muscle atrophy, Short stature	ORPHA:2380
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr...	OMIM:601389
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Restlessness, Flexion contracture, Irritability, Short nose, Failure to thrive	OMIM:618379
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased muscle lipid content, Myopa...	OMIM:610717
Chylomicron Retention Disease	Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat...	OMIM:246700
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
N-Acetylaspartate Deficiency	Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r...	OMIM:614063
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Short stature, Depressed nasal bridge, Gastroesophageal reflux, Bruxism	OMIM:300434
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Failu...	OMIM:614480
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Facial hypoton...	OMIM:617595
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619386
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Supernumerary nipple, S...	OMIM:614376
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dicarboxylic aciduria, Methylmalonic aciduria, Dehydration, Failur...	ORPHA:289504
Intellectual Developmental Disorder, X-Linked 98	Urinary incontinence, Long nose, Self-biting, Gastroesophageal reflux, Abnormal repetitive manner...	OMIM:300912
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Short st...	ORPHA:1667
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ...	OMIM:146510
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter...	OMIM:611376
Multiple Intestinal Atresia	Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis	ORPHA:2300
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Att...	OMIM:620292
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Congenital diaphragmatic h...	ORPHA:363528
Foxg1 Syndrome	Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth retardation, ...	ORPHA:561854
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate, Obesity	OMIM:300577
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co...	OMIM:619048
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Short stature, Camptodactyly of finger, Growth delay, Gastroesophageal reflux, ...	ORPHA:1495
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri...	ORPHA:369
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Stormorken Syndrome	Short stature, Epistaxis, Howell-Jolly bodies, Prominent nose, Asplenia, Thrombocytopenia, Hematu...	OMIM:185070
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria, Failure to thrive, Dehydration	OMIM:614265
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Short stature, Cleft soft palate, Intestinal malrotation, Leukocytosis...	OMIM:619321
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Failure to thrive, Duodenitis	OMIM:614328
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functio...	ORPHA:391487
Ring Chromosome 8 Syndrome	Anteverted nares, Polyhydramnios, Abnormality of the ureter, Short nose, Hydronephrosis	ORPHA:1450
Vipoma	Anorexia, Dehydration, Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice,...	ORPHA:97282
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Lymphopenia, Short stature, Neutropenia, Renal hypoplasia, Renal cyst, Anem...	OMIM:618460
Chylomicron Retention Disease	Elevated hepatic transaminase, Acanthocytosis, Growth delay, Myopathy, Fat malabsorption, EMG: my...	ORPHA:71
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short stature, Short uvula, Hydrops fetalis, Renal cyst, Renal hypoplasia, Cleft pal...	OMIM:614091
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Neonatal death, Hepatomegaly, Premature birth, Nonimmune hydrops fetalis, Antever...	OMIM:608013
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Small for gestational age, Short nose, Short stature, Attention deficit hyperactivity disorder	OMIM:245570
Non-Distal Duplication 10Q	Depressed nasal bridge, Short stature, Cryptorchidism, Abnormality of the urinary system, High pa...	ORPHA:1695
Chung-Jansen Syndrome	Anteverted nares, Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, High palate, Attenti...	OMIM:617991
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Short stature, Renal agenesis, Splenomegaly, Cryptorchid...	OMIM:618440
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Hyperactivity, Small for gestational age, Short stature, Anteverted nares, R...	ORPHA:352490
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Oligomeganephronia	Branchial cyst, Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal age...	ORPHA:2260
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Gro...	ORPHA:541423
Alg6-Cdg	Ataxia, Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Failure to ...	ORPHA:79320
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis	ORPHA:382
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
22Q11.2 Deletion Syndrome	Polyhydramnios, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the thymus, Vesicourete...	ORPHA:567
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Fetal akinesia sequence, Self-injurious behavior, Arthrogryposis multiplex congenita, Intrauterin...	OMIM:615282
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Lymphedema, Periorbital edema, Ectopic kidney, Rectal prolapse...	OMIM:235510
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ataxia, Polyuria, Dehydration, Death in adolescence, Proximal tubulopathy, Death in...	OMIM:560000
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death...	OMIM:601847
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Mosaic Trisomy 9	Hypoplasia of penis, Intestinal malrotation, Polyhydramnios, Camptodactyly of finger, Asplenia, S...	ORPHA:99776
Distal Duplication 6P	Short stature, Prominent nasal bridge, Renal hypoplasia, Abnormality of the urinary system, Intra...	ORPHA:1745
Bainbridge-Ropers Syndrome	Polyhydramnios, Contracture of the proximal interphalangeal joint of the 4th finger, High palate,...	OMIM:615485
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Anteverted nares, Congenital diaphragmatic hernia, Depressed nasal bridge, Promine...	OMIM:618454
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Tubulointersti...	OMIM:251000
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Small for gestational age, Miscarriage, Proporti...	ORPHA:439167
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Hyperactivity, Short stature, Anteverted nares, Aggressive behavior, Bruxism, Wide ...	OMIM:618342
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Polyhydramnios, Lymphedema, Thyroid l...	OMIM:235255
Diaphanospondylodysostosis	Nephrogenic rest, Depressed nasal bridge, Increased nuchal translucency, Short nose, Disproportio...	OMIM:608022
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Bicarbonaturi...	ORPHA:47159
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short stature, Anteverted nares, Prominent nasal bridge, Aggressive ...	OMIM:300558
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Anteverted nares, Cryptorchidism, Depressed nasal ridge, Obesity, Renal hypoplasia, Pseudohypopar...	ORPHA:464288
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Short stature, Facial hypotonia, Overweight, Bulbous nose, High palate, Difficulty...	ORPHA:280763
Ddost-Cdg	Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Gastroesophageal reflu...	ORPHA:300536
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile d...	ORPHA:731
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Thrombocytosi...	ORPHA:20
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Ataxia, Renal hypoplasia, 3-Methylglutaconic aciduria, Lethargy	ORPHA:254913
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Aminoaciduria, Short ...	ORPHA:99688
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Oligohydramnios	OMIM:619053
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Lymphedema, Malabsorption, Splenomegaly, Anorexia, ...	ORPHA:2930
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Premature birth, Depressed nasal bridge, Ankle flexion contracture, Inability to walk, Breech pre...	OMIM:617802
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Depressed nasal bridge, Unsteady gait, Pica, Tongue thru...	OMIM:617865
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Renal hypoplasia, Self-injurious behavior, Small thenar eminenc...	OMIM:618914
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Clark-Baraitser Syndrome	Hyperactivity, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Obesity, High palat...	OMIM:617752
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia, Anal atresia	OMIM:276950
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced rhabdomyolysis, ...	OMIM:201475
Wilson Disease	Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, ...	OMIM:277900
Trigonocephaly 1	High, narrow palate, Long penis, Wide nasal bridge, Short nose, Meckel diverticulum	OMIM:190440
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Depressed nasal ridge, Intrauterine growth retardation, Short nose, Median clef...	ORPHA:1832
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Short stature, Hypospadias, Depressed nasal ridge, Short nose	ORPHA:1355
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Dehydration, Gastroesophageal reflux, Failure to thrive	OMIM:251120
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesop...	ORPHA:534
Lennox-Gastaut Syndrome	Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Anteverted nares, Polyhydramnios, Depressed nasal bridge, Choanal atresia, Coronal...	OMIM:619859
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short stature, Ataxia, Polyhydramnios, Aggressive behavior, Depressed nasal bridge, Irritability,...	OMIM:619833
Christianson Syndrome	Death in early adulthood, Decreased muscle mass, Cachexia, Abnormality of the nose, Dysphagia, Ga...	ORPHA:85278
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Premature birth, Thrombocytosis, Congenital hypoplastic anemia,...	OMIM:105650
Tarp Syndrome	Meckel diverticulum, Anteverted nares, Wide nasal bridge, Horseshoe kidney, Cleft palate, Tongue ...	OMIM:311900
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Short stature, Proteinuria, Prominent nasal bridge, Cryptorchidism, Renal hy...	ORPHA:1307
Smith-Magenis Syndrome	Decreased fetal movement, Short stature, Failure to thrive in infancy, Anteverted nares, Renal hy...	ORPHA:819
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Prominent nasal bridge, Aggressive behavior, Gait ataxi...	OMIM:609425
Duane-Radial Ray Syndrome	Renal malrotation, Anal stenosis, Abnormal nasopharynx morphology, Renal agenesis, Aganglionic me...	OMIM:607323
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decrease...	ORPHA:79319
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ...	OMIM:609053
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Myopathy, High palate, Delayed puberty, Short nose, Anemia	ORPHA:2598
Arima Syndrome	Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Ataxia, Esophageal varix, Stage 5 chr...	OMIM:243910
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Glo...	ORPHA:2137
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Ataxia, Thrombocytosis, Edema, Anorexia, Leukocytosis, Dehydration, Weig...	ORPHA:134
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Splenomegaly, Inability to walk, Renal hypoplasia, Growth delay, Nephrocalcinosis, Am...	OMIM:617913
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Hyperactivity, Hypospadias, Anteverted nares, Cryptorchidism, Obesity, Cleft...	ORPHA:254346
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syn...	OMIM:219800
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Malabsorption	OMIM:600955
Cystic Fibrosis	Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hyperca...	OMIM:219700
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Short stature, Pancytopenia, Cryptorchidism, Renal hypo...	ORPHA:85321
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Polyhydramnios, Broad nasal tip, Postnatal growth retardation, Splenomegaly, Pancre...	ORPHA:1655
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 58	Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe...	OMIM:617270
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Dehydration, Growth delay, Nephrocalcinosis, Distal renal tubular acidosis, Failu...	OMIM:602722
Alg1-Cdg	Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Nephro...	ORPHA:79327
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Anteverted nares, Short stature, Depressed nasal bridge, Abnormality of the anterior pituitary, R...	ORPHA:75389
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Slender nose, Postnatal growth retardation, Cryptorchidism, Gastroesopha...	OMIM:615419
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Dehydration	ORPHA:79159
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stom...	ORPHA:2869
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Broad nasal tip, Splenomegaly, Self-injurious behavior, High palate, Abnormal repet...	OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Hypospadias, Ataxia, Facial hypotonia, Anteverted nares, Depressed nasal bridge, Inability to wal...	OMIM:300260
Ulnar-Mammary Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Pyloric stenosis, Cryptorchidism, Ap...	ORPHA:3138
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Megaloblastic anemia, Hemolytic-uremic sy...	ORPHA:79282
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Anteverted nares, Depressed nasal bridge, Under...	OMIM:619005
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Anteverted nares, High, narrow palate, Cryptorchidism, Abnorma...	ORPHA:2849
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Short stature, Anteverted nares, Polyhydramnios, Depressed na...	OMIM:617157
Landau-Kleffner Syndrome	Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio...	ORPHA:98818
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Death in childhood, Death in infancy, Le...	OMIM:243150
Kinsship Syndrome	Death in infancy, Short stature, Abnormal repetitive mannerisms, Bulbous nose, Renal hypoplasia, ...	OMIM:619297
Craniosynostosis, Herrmann-Opitz Type	Short stature, Abnormality of the upper urinary tract, Abnormality of the urethra, Cleft palate, ...	ORPHA:2145
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenome...	OMIM:211600
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Polyhy...	OMIM:619004
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Myopathy, Lymphocytosis, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp...	ORPHA:485405
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention deficit h...	OMIM:617914
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Short stature, Ataxia, Depressed nasal bridge, Aggressive behavior, ...	ORPHA:369891
Joubert Syndrome 22	Intrauterine growth retardation, Renal hypoplasia	OMIM:615665
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Bone marrow hypocellularity, Lethargy, Th...	OMIM:243500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Anorexia, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los...	OMIM:175500
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal...	OMIM:613870
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en...	ORPHA:101330
Bile Acid Malabsorption, Primary, 1	Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:613291
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Meckel diverticulum, Thick nasal alae, Dysphagia	ORPHA:163961
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Abnormal rena...	OMIM:610883
14Q24.1Q24.3 Microdeletion Syndrome	Prominent nasal bridge, Intestinal malrotation, Ectopic kidney, Cryptorchidism, Wide nasal bridge...	ORPHA:401935
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Wide nose, Proteinuria, Splenomegaly, Inability to walk, Flexion contracture, Neutr...	OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Increased muscle lipid content, Knee flexion contracture, High palate, Macr...	OMIM:608836
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short stature, Anteverted nares, Bulbous nose, Wide nasal bridge, Growth delay, Glossoptosis, Hig...	OMIM:613604
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria...	OMIM:610205
Distal Deletion 10Q	Prominent nose, Functional abnormality of the bladder, High palate, Vesicoureteral reflux, Spina ...	ORPHA:96148
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Wide nose, Short stature, Small for gestational age, Hypospadias, N...	OMIM:257300
Cholera	Abnormality of renal excretion, Premature birth, Achlorhydria, Miscarriage, Dehydration, Irritabi...	ORPHA:173
3C Syndrome	Death in infancy, Hypoplasia of penis, Short stature, Hypospadias, Intestinal malrotation, Depres...	ORPHA:7
Small Bowel Atresia	Intestinal hypoplasia, Short stature, Intestinal malrotation, Jejunal atresia, Intrauterine growt...	ORPHA:1201
Miller-Dieker Syndrome	Anteverted nares, Ataxia, Polyhydramnios, Growth delay, Nephropathy, Short nose	ORPHA:531
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Polyhydramnios, Dehydration	OMIM:616069
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Short stature, Failure to thrive in infancy, Small for gestational age, Ataxia, Bu...	OMIM:614104
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria, Depression, High pal...	OMIM:620242
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Inability to walk, Wide nasal bridge, Cleft palate, Growth delay, Bruxism, Short...	OMIM:615716
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Short stature, Microcytic anemia, Hepatospl...	OMIM:619013
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Ataxia, Facial hypotonia, Anorexia, Oral-pharyngeal dy...	ORPHA:2131
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Decreased fetal movement, Absence of renal corticomedullary differentiation, Broad nasal tip, Bif...	OMIM:619758
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Hypospadias, Polyhydramnios, Anteverted nares, Flexion contracture, Hy...	OMIM:616897
Van Maldergem Syndrome 2	Hypospadias, Depressed nasal bridge, Cryptorchidism, Renal hypoplasia, Wide nasal bridge, Growth ...	OMIM:615546
Williams-Beuren Syndrome	Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral r...	OMIM:194050
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Dehydration, Neu...	OMIM:251110
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Aggressive behavior, Celiac disease, Bulbous nose, Atten...	ORPHA:284169
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Depressed nasal bridge, High, narrow palate,...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Decreased fetal movement, Depressed nasal bridge, Edema, Pericar...	OMIM:608776
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, High, narrow p...	OMIM:208150
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Anteverted nares, Depressed nasal bridge, Inability to walk, Lobulated tongue, Short nose, Abnorm...	OMIM:613443
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Generalized lymphadenopathy, Hemolytic anemia, Pancytopenia, Ed...	OMIM:615846
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Scapular winging, Small for gestational age, Anteverted nares, Depressed nasal bri...	OMIM:617796
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hyperactivity, Ataxia, Gait ataxia, Myopathy, Cirrhosis, Hepatic steatosis	ORPHA:363400
Pierpont Syndrome	Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Decreased body weight, Micropenis, Fai...	OMIM:602342
Lowry-Maclean Syndrome	Hypospadias, Choanal atresia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormal...	ORPHA:2409
Smith-Magenis Syndrome	Hyperactivity, Short stature, Velopharyngeal insufficiency, Abnormal renal morphology, Self huggi...	OMIM:182290
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Hamartoma of tongue, Prominent nose, Cryptorchidism, Renal hypoplasia,...	OMIM:616300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,...	OMIM:619418
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Anorexia, Foll...	OMIM:619381
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Broad nasal tip, Cryptorchidism, S...	ORPHA:3306
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Vesicoureteral reflux, Depressed nasal bridge, R...	OMIM:118450
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Grow...	ORPHA:75233
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion, Short nose, Depressed nasal ridge, ...	OMIM:613885
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration,...	ORPHA:652
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Thrombocytop...	OMIM:251100
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Renal agenesis, Short stature, Premature birth, Antever...	ORPHA:280200
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Short stature, Decreased response to growth hormone stimulation test, ...	ORPHA:457240
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Edema, Dehydration, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypopl...	ORPHA:79404
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia, Wide nasal bridge, Growth delay, Anteriorly placed anus, High pala...	OMIM:601390
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Hyperactivity, Short stature, Hypospadias, Depressed nasal bridge, ...	OMIM:300354
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Donnai-Barrow Syndrome	Depressed nasal bridge, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Umb...	ORPHA:2143
Microsporidiosis	Glossitis, Myositis, Cholangitis, Cachexia, Anorexia, Abnormality of the spleen, Peritonitis, Ure...	ORPHA:2552
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:616034
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, Dehydration, We...	ORPHA:171876
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth...	OMIM:266810
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Rhabdomyolysis, Dehydration, Decreased liver function, Neonatal death, Myoglobinuria	OMIM:602199
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short stature, Inability to walk, Growth delay, Short nose	ORPHA:438178
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Diaphragmatic eventration, Ataxia, Bilateral ...	ORPHA:66634
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Ano...	ORPHA:98850
Cri-Du-Chat Syndrome	Hyperactivity, Small for gestational age, Abnormality of the kidney, Hypospadias, Aggressive beha...	OMIM:123450
Rajab Interstitial Lung Disease With Brain Calcifications 1	High palate, Gastroesophageal reflux, Hepatic steatosis, Short stature, Portal hypertension, Decr...	OMIM:613658
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Anteverted nares, Congenital diaphragmatic hernia, D...	ORPHA:1001
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Basal ganglia gliosis, Lateral ventricle dilatation	OMIM:607596
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Anteverted nares, Unilateral renal agenesis, Ectopic kidney,...	OMIM:617641
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac...	ORPHA:2959
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of penis, High palate, Short nose	ORPHA:217385
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Depressed nasal bridge...	OMIM:620005
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, Anteverted nares, Depressed nasal bridge, Malabsorption, Protruding tongue, Macrog...	OMIM:242860
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati...	OMIM:170100
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner...	OMIM:612069
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Hypospadias, Intestinal malrotation, Anteverted nares, Prominent nose, Depressed...	OMIM:618316
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Baller-Gerold Syndrome	Narrow nasal bridge, Short stature, Failure to thrive in infancy, Prominent nasal bridge, Malabso...	ORPHA:1225
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Centrally nucleated skeletal muscle fibers, Splenome...	OMIM:613327
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Morbid Obesity And Spermatogenic Failure	Azoospermia, Hepatic steatosis, Obesity, Oligozoospermia	OMIM:615703
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Dehydration,...	ORPHA:18
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Obesity, Mi...	OMIM:614613
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Calf muscle pseudohypertrophy, Short stature, Ataxia, Acanthocytosis, Postnat...	ORPHA:96180
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Short stature, Elevated circulating as...	OMIM:608779
Coffin-Siris Syndrome 6	Short stature, Depressed nasal bridge, Broad nasal tip, High, narrow palate, Cleft palate, Tics, ...	OMIM:617808
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Renal hypoplasia, Vesicoureteral reflux, Short nose, Failure to thrive, Hydrone...	OMIM:613735
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Mild postna...	ORPHA:90324
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia...	ORPHA:139466
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent nose, High, narrow palate, Gastroesophageal reflux, Thick nasal alae, Self-mutilation, ...	OMIM:619950
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Short stature, Depressed nasal bridge, Cleft palate, M...	OMIM:241800
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short stature, Ataxia, Aggressive behavior, Underdeveloped nasal alae, Self-injurious behavior, H...	OMIM:300986
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Short stature, Ataxia, Anteverted nares, Decreased response to growth hormone stim...	OMIM:601853
Teebi Hypertelorism Syndrome 2	Hypospadias, Depressed nasal bridge, Broad nasal tip, Cleft palate, High palate, Attention defici...	OMIM:619736
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Decreased fetal movement, Mild postnatal growth retardation, Ataxia, Facial palsy, ...	ORPHA:456312
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, ...	ORPHA:1332
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Decreased fetal movement, Short stature, Pancreatic fibrosis, Ataxia, Postnatal gro...	OMIM:616263
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Gait ataxia, High palate, Compulsive behaviors, ...	OMIM:135900
Congenital Myopathy 17	Failure to thrive in infancy, Polyhydramnios, Fetal akinesia sequence, Renal hypoplasia, Cleft pa...	OMIM:618975
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Dysphagia, Bradykinesia, Agitation, Bruxism, Abnormal repetitive mannerisms	OMIM:617435
Behavioral Variant Of Frontotemporal Dementia	Thickened nuchal skin fold, Restrictive behavior, Collectionism, Restlessness, Aggressive behavio...	ORPHA:275864
Rubinstein-Taybi Syndrome 2	Hyperactivity, Short stature, Intestinal malrotation, Prominent nose, Narrow palate, High palate,...	OMIM:613684
Wiedemann-Steiner Syndrome	Hyperactivity, Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, ...	ORPHA:319182
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms	OMIM:619150
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Megacystis, Hypertonic dehydration, Irritability, Polydipsia, Failure to...	OMIM:125800
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Megacystis, Hypertonic dehydration, Irritability, Polydipsia, Failure to...	OMIM:304800
Williams Syndrome	Hypoplasia of penis, Periorbital edema, Rectal prolapse, Abnormal tubulointerstitial morphology, ...	ORPHA:904
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gliosis	OMIM:221770
Metachromatic Leukodystrophy	Ataxia, Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemob...	ORPHA:512
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Anteverted nares, Aggressiv...	ORPHA:261494
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr...	ORPHA:79259
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Gliosi...	ORPHA:79243
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, High palate, Tics, Compulsive behaviors, Micropenis, Hepatic steatosis, Abno...	OMIM:619475
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Penile Agenesis	Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Feta...	ORPHA:49
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, High palate, Short nose	ORPHA:261120
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Anteverted nares, Urinary incontinence, Intestin...	ORPHA:2729
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Edema, Absence of re...	OMIM:120330
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Gastroesophageal reflux,...	ORPHA:508488
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Progressive gait ataxia, Congenital contracture, G...	ORPHA:191
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Anteverted nares, Inability to walk, Flexion contracture, Wide...	OMIM:619383
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ...	OMIM:256810
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Intellectual Developmental Disorder, Autosomal Dominant 1	Short stature, Ataxia, Aggressive behavior, Postnatal growth retardation, Prominent nose, Bulbous...	OMIM:156200
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Prominent nose, Postnatal growth retardation, Cryptorchidism, Dehydration, Macroglo...	ORPHA:96191
Desmosterolosis	Severe short stature, Renal agenesis, Intestinal malrotation, Depressed nasal bridge, Renal hypop...	ORPHA:35107
Obesity And Hypopigmentation	Polyphagia, Hepatic steatosis, Obesity	OMIM:620195
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
Familial Cold Urticaria	Polydipsia, Dehydration	ORPHA:47045
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Short nose, Gastroesophageal reflux	ORPHA:85277
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Abnormality of the kidney, Broad nasal tip, Overweight, Repetitive compulsive behavior, Flexion c...	ORPHA:391372
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of...	ORPHA:1606
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Recurrent urinary tract infections, Ataxia, Premature birth, Abnormality of ...	OMIM:619229
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormal repetiti...	ORPHA:464311
Blepharophimosis-Impaired Intellectual Development Syndrome	Recurrent urinary tract infections, Wide nose, Hypospadias, Anteverted nares, Narrow nasal ridge,...	OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Anteverted nares, Prominent nasal bridge, Aggressive behavior, Underdeveloped nasal alae, High pa...	OMIM:618825
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Small for gestational age, Hypospadias, Premature birt...	ORPHA:1708
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Anteverted nares, Polyhydramnios, Lymphedema, Hydrocele testis, Protein-losing enteropathy	OMIM:618154
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:618736
Acrocephalopolydactyly	Short nose, Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly	ORPHA:221054
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Premature birth, Depressed ...	ORPHA:1830
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre...	ORPHA:85450
22Q11.2 Duplication Syndrome	Wide nose, Urethral stenosis, Depressed nasal ridge, Cleft palate, Growth delay, Aplasia/Hypoplas...	ORPHA:1727
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly...	OMIM:619991
Bardet-Biedl Syndrome 3	Obesity, Renal hypoplasia	OMIM:600151
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Congenital Heart Defects And Skeletal Malformations Syndrome	Short stature, Hypospadias, Intestinal malrotation, Congenital diaphragmatic hernia, Long nose, N...	OMIM:617602
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
Pyruvate Carboxylase Deficiency	Hepatomegaly, Ataxia, Anorexia, Lacticaciduria, Dehydration, Growth delay, Tip-toe gait, Compulsi...	ORPHA:3008
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to...	OMIM:615438
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Anteverted nares, Protruding tongue, Postnatal growth retardation, D...	OMIM:301040
Chromosome 6Q11-Q14 Deletion Syndrome	Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, High palate, Um...	OMIM:613544
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Elevated circula...	OMIM:618805
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien...	ORPHA:90291
Diarrhea 1, Secretory Chloride, Congenital	Premature birth, Polyhydramnios, Elevated stool chloride content, Dehydration, Growth delay, Fail...	OMIM:214700
Pancreatic Colipase Deficiency	Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc...	ORPHA:309108
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Short stature, Fatty replacement of skeletal muscle, Generalized amyotrophy, Incre...	ORPHA:52430
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ...	ORPHA:464306
Jacobsen Syndrome	Broad columella, Abnormality of the anus, Death in infancy, Multicystic kidney dysplasia, Short s...	ORPHA:2308
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Andersen-Tawil Syndrome	Short stature, Bulbous nose, Renal hypoplasia, Wide nasal bridge, Growth delay, Renal tubular dys...	ORPHA:37553
48,Xxyy Syndrome	Hypoplasia of penis, Ataxia, Cryptorchidism, Obesity, Cleft palate, Depression, Azoospermia, Gast...	ORPHA:10
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Anteverted nares, Diastasis recti, Polyhydramnios, Depressed nasal bridge, Postnatal growth retar...	ORPHA:254528
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Short nose, Short stature	ORPHA:2370
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, ...	OMIM:220110
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Diastasis recti, Portal hypertension, Breech presentation, Fl...	ORPHA:440713
3Q29 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Aggressive behavior, Horseshoe kidney, Depression, High pala...	ORPHA:65286
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomegaly, Nephrotic syndr...	OMIM:618999
Radio-Tartaglia Syndrome	Ataxia, Anteverted nares, Impulsivity, Aggressive behavior, Depressed nasal bridge, High, narrow ...	OMIM:619312
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Short nose, Failure ...	OMIM:619179
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Ataxia, Abnormality of the upper urinary tract, Moderate albuminuria, Dehydration, Wei...	ORPHA:99885
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Broad-based gait, Reticulocytosis, Ataxia, Acanthocy...	ORPHA:14
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Anorexia, Pedal edema, Weight loss, Unilateral r...	ORPHA:49041
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Prominent nose, Flexion contracture, Renal cyst, Knee flexion contracture, Gastroesophageal reflu...	OMIM:210710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Gastroes...	ORPHA:17
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Anteverted nares, Underdeveloped nasal alae, Congeni...	ORPHA:2031
Ritscher-Schinzel Syndrome 4	Decreased fetal movement, Short stature, Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism...	OMIM:619435
Miller-Dieker Lissencephaly Syndrome	Decreased fetal movement, Anteverted nares, Polyhydramnios, Cryptorchidism, Wide nasal bridge, Cl...	OMIM:247200
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,...	OMIM:618774
Restrictive Dermopathy	Ureteral duplication, Decreased fetal movement, Multiple joint contractures, Hypospadias, Camptod...	ORPHA:1662
White-Sutton Syndrome	Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Tics, Abnormal repetitive ...	OMIM:616364
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac...	OMIM:261515
Adrenal Hypoplasia, Congenital	Renal salt wasting, Cryptorchidism, Dehydration, Oligozoospermia, Azoospermia, Muscular dystrophy...	OMIM:300200
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot...	OMIM:614921
16P11.2P12.2 Microdeletion Syndrome	Hyperactivity, Short stature, Camptodactyly of finger, Anteverted nares, Long nose, Bulbous nose,...	ORPHA:261211
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Short stature, Ataxia, Cryptorchidism, Polyphagia, Growth del...	ORPHA:228402
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Hypospadias, Depre...	OMIM:219000
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Protein-losing enteropathy, Failu...	ORPHA:95428
Down Syndrome	Thickened nuchal skin fold, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Ren...	ORPHA:870
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myelomeningocele, Contracture of ...	OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Restlessness, Hyperactivity, Short stature, Facial hypotonia, Promi...	OMIM:300534
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Leukocytosis, Rhabdomyolysis, D...	ORPHA:94093
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Hematochezia, Anemia, Compulsive behaviors, Decreased body weight,...	ORPHA:209964
Arthrogryposis, Distal, Type 2A	Polyhydramnios, Knee flexion contracture, High palate, Spina bifida occulta, Wrist flexion contra...	OMIM:193700
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Dark yel...	ORPHA:30391
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Dehydration, Growth delay, Failu...	OMIM:615453
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Growth delay, Iron deficiency anemia,...	OMIM:226300
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio...	ORPHA:69076
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Failure to thrive, Renal sodium wasting, Dehydration	ORPHA:556030
Hijazi-Reis Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Gastroesophageal reflux, Gait distu...	OMIM:301094
Tetrasomy 12P	Anteverted nares, Short stature, Cachexia, Abnormal soft palate morphology, Short nose, Anal atresia	ORPHA:884
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Cryptorchidism, Renal hypoplasia, Micropenis, Anal atresia, Median...	OMIM:264480
Corticosterone Methyloxidase Type I Deficiency	Growth delay, Failure to thrive, Dehydration, Renal salt wasting	OMIM:203400
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic failure, Failure to thrive, Hepatic steatosis	OMIM:617872
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Anteverted nares, Intrahepatic cholestasis, Bulbous nose, Meni...	ORPHA:46059
Foxg1 Syndrome Due To 14Q12 Microdeletion	Palpebral edema, Depressed nasal bridge, Bulbous nose, Growth delay, Macroglossia, Gastroesophage...	ORPHA:261144
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Death in infancy, Congenital contracture, High palate, Short nose	OMIM:615042
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Polyhydramnios, Wide nasal bridge, Nephrocalcinosis, High palate, Neutropenia, Int...	OMIM:618005
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Short stature, Ataxia, Inability to w...	OMIM:615356
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Short nose	OMIM:616910
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Elbow contracture, A...	OMIM:617201
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Asplenia, Renal hypoplasia, Abdo...	OMIM:270100
Gracile Syndrome	Death in early adulthood, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron c...	ORPHA:53693
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Harlequin Ichthyosis	Self-injurious behavior, Depressed nasal ridge, Dehydration	ORPHA:457
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atre...	OMIM:115470
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ataxia, Supernumerary nipple, Aggressive behavior, Pyloric steno...	ORPHA:457279
Corticosterone Methyloxidase Type Ii Deficiency	Growth delay, Failure to thrive, Dehydration, Renal salt wasting	OMIM:610600
8P23.1 Microdeletion Syndrome	Short stature, Hypospadias, Congenital diaphragmatic hernia, Prominent nasal bridge, Cryptorchidi...	ORPHA:251071
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hepatic steatosis, Limb hypertonia	OMIM:615918
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Anteverted nares, Aggressive behavior, Bulbous nose, Wide nasal ...	OMIM:300958
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Ataxia, Anteverted nares, Impulsivity, Aggressive behavior, Prominent nasal bridge...	OMIM:616977
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Short stature, Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral r...	OMIM:617660
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Wide nasal bridge	OMIM:619690
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Wide nasal bridge, S...	OMIM:617061
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepati...	OMIM:249000
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Aggressive beh...	OMIM:600430
Fetal Trimethadione Syndrome	Depressed nasal bridge, Hypospadias, High palate, Intrauterine growth retardation, Short nose	ORPHA:1913
Distal Duplication 18Q	Thickened nuchal skin fold, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Choan...	ORPHA:1716
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure, Renal steatosis	OMIM:261650
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Anore...	ORPHA:223
Camptodactyly Syndrome, Guadalajara Type 1	Scapular winging, Short stature, Camptodactyly of finger, Spina bifida, Anteverted nares, Depress...	ORPHA:1327
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postn...	OMIM:614732
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Myopathy, Macrovesicular hepatic steatosis	OMIM:618234
Ogden Syndrome	Lymphedema, Microvesicular hepatic steatosis, Iron deficiency anemia, High palate, Macrovesicular...	OMIM:300855
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Hypospadias, Depressed nasal bridge, Broad nasal tip, High palate, Low frustration...	ORPHA:363686
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	OMIM:620357
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Macroglossia, Intrau...	ORPHA:1914
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Anal stenosis, Anteverted nares, Ureteral hypoplasia, Poly...	OMIM:614080
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Depressed nasal bridge, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Ren...	OMIM:231680
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hyperactivity, Hypospadias, Diastasis recti, Depressed nasal bridge, Large f...	ORPHA:457485
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Ataxia, Cachexia, Malabsorption, Anorexia, S...	ORPHA:3452
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Hemochromatosis, Type 4	Anemia, Hepatomegaly, Hepatic steatosis, Cirrhosis	OMIM:606069
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Methioninuria, Depression, High palate, Failure to thrive, Hepatic steatosis, Pan...	OMIM:236200
Coffin-Siris Syndrome 7	Hyperactivity, Wide nose, Short stature, Severe temper tantrums, Polyhydramnios, Anteverted nares...	OMIM:618027
Peho-Like Syndrome	Short nose, Edema	OMIM:617507
Monosomy 13Q34	Epistaxis, Prominent nasal bridge, Prominent nose, Broad nasal tip, Fetal pyelectasis, Obesity, G...	ORPHA:96168
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Decreased fetal movement, Hepatic steatosis	OMIM:615119
Rhiny	Short nose, Anteverted nares	OMIM:180360
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Renal insufficiency, Re...	ORPHA:99826
Tarp Syndrome	Broad-based gait, Extramedullary hematopoiesis, Anteverted nares, Cryptorchidism, Wide nasal brid...	ORPHA:2886
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Neutro...	OMIM:616395
Pick Disease Of Brain	Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl...	OMIM:172700
Facial Paresis, Hereditary Congenital, 3	Anteverted nares, Facial palsy, Depressed nasal bridge, High palate, Dysphagia, Short nose	OMIM:614744
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, P...	OMIM:214800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Short stature, Depressed nasal bridge, Cachexia, ...	ORPHA:79076
Trisomy 12P	Thickened nuchal skin fold, Short stature, Supernumerary nipple, Wide nasal bridge, Cleft palate,...	ORPHA:1699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, Growth de...	OMIM:614069
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Bulbous nose, Wide nasal bridge, Self-injurious behavior, High palate,...	OMIM:613174
Trisomy 10P	Absent gallbladder, Decreased muscle mass, Small for gestational age, Abnormality of the kidney, ...	ORPHA:171929
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Premature birth, Goiter, Splenomegaly...	ORPHA:525731
Developmental And Epileptic Encephalopathy 30	Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Thickened nuchal skin fold, Hypoplasia of penis, Camptodactyly of finger, Prominent nasal bridge,...	ORPHA:2083
Macrocephaly/Autism Syndrome	Hepatomegaly, Depressed nasal bridge, Penile freckling, Large for gestational age, Splenomegaly, ...	OMIM:605309
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Hypospadias, Anteverted nares, Prominent nasal bridge, Echogenic intracardiac focu...	OMIM:617751
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnorma...	ORPHA:847
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behavior, Prolonged ...	OMIM:618828
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Hypopituitarism, Short stature, Anteverted nares, Depressed nasal bridge, Anterior pituitary hypo...	OMIM:613038
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Sti...	OMIM:615415
Femoral-Facial Syndrome	Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kid...	ORPHA:1988
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Restlessness, Broad-based gait, Wide nose, Prominent nasal bridge, Con...	ORPHA:251028
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration, Renal salt wasting	OMIM:264350
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Restlessness, Edema of the dorsum of feet, Edema of the dorsum of hands, Fle...	ORPHA:544503
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Obesity, Compul...	OMIM:618430
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Short stature, Cleft palate, Vesicoureteral reflux, Short n...	OMIM:614261
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestational age, Renal...	OMIM:229850
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short columella, Abnormal nostril mo...	ORPHA:1248
Lamellar Ichthyosis	Renal insufficiency, Short stature, Dehydration	ORPHA:313
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Hepatic steatosis	ORPHA:436182
Niemann-Pick Disease, Type C2	Hepatomegaly, Death in infancy, Ataxia, Fetal ascites, Polyhydramnios, Bone-marrow foam cells, Sp...	OMIM:607625
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Kagami-Ogata Syndrome	Premature birth, Diastasis recti, Polyhydramnios, Large for gestational age, Postnatal growth ret...	ORPHA:254519
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, C...	ORPHA:445038
Macrocephaly-Developmental Delay Syndrome	Palpebral edema, Wide nasal bridge, Hepatosplenomegaly, Self-injurious behavior, High palate, Abn...	ORPHA:397612
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Sweeney-Cox Syndrome	Choanal atresia, Polyhydramnios, Broad nasal tip, Asplenia, Underdeveloped nasal alae, Velopharyn...	OMIM:617746
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft p...	ORPHA:261197
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Short nose, Short stature, Stereotypical hand wringing	ORPHA:289266
Bilateral Generalized Polymicrogyria	Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Gastroesophageal...	ORPHA:208447
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Polyhydramnios, Anteverted nares, ...	ORPHA:3339
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Prominent nose, Flexion con...	OMIM:619503
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Congenital hepati...	ORPHA:93271
Turner Syndrome Due To Structural X Chromosome Anomalies	Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t...	ORPHA:99413
Mosaic Monosomy X	Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t...	ORPHA:99228
Monosomy X	Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t...	ORPHA:99226
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Turner Syndrome	Lymphedema, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of t...	ORPHA:881
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Micropenis, Short...	ORPHA:268261
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Skeletal muscle steatosis, Renal tubular dy...	ORPHA:436271
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Camptodactyly of finger, Intestinal malrotation, Meningocele, Duodenal stenosis	ORPHA:1759
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Small for gestational age, Depressed nasal bridge, Decreased response ...	OMIM:614114
Neu-Laxova Syndrome 1	Decreased fetal movement, Wide nose, Renal agenesis, Polyhydramnios, Fetal akinesia sequence, Spi...	OMIM:256520
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Bulbous nose, High palate, Gastroesophageal reflux, Attention deficit hyper...	OMIM:619934
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranoproliferativ...	OMIM:619525
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephro...	OMIM:240300
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Short nose, Gait disturbance	ORPHA:2429
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function, Congenital portosystemic venous shunt, Persistent pa...	OMIM:601466
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna...	OMIM:601346
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal agenesis, Short stature, Hypospadias, Facial palsy, Spina bifida, Renal hypoplasia, Horsesh...	ORPHA:508498
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Growth de...	OMIM:614749
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Failure to thrive	ORPHA:35710
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Gait disturbance...	OMIM:600795
Potocki-Shaffer Syndrome	Micropenis, Wide nasal bridge, Short nose, Underdeveloped nasal alae	OMIM:601224
Burn-Mckeown Syndrome	Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia	ORPHA:1200
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Coffin-Siris Syndrome	Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Postna...	ORPHA:1465
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Malabsorption	OMIM:277175
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Microscopic hematuria, Chronic kidney disease, Abnormal urine p...	ORPHA:411634
Ollier Disease	Lymphangioma, Multiple enchondromatosis, Abnormal cartilage morphology, Anemia	ORPHA:296
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n...	ORPHA:177907
Trisomy 18	Short stature, Camptodactyly of finger, Cachexia, Abnormality of the upper urinary tract, Congeni...	ORPHA:3380
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aganglionic megacolon, Short stature, Aggressive behavior, Ileus, Gait disturba...	OMIM:300352
Phelan-Mcdermid Syndrome	Broad-based gait, Palpebral edema, Abnormality of the kidney, Lymphedema, Aggressive behavior, Bu...	OMIM:606232
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Visceral Myopathy 1	Aganglionic megacolon, Intestinal pseudo-obstruction, Polyhydramnios, Pancreatitis, Microcolon, M...	OMIM:155310
Renpenning Syndrome 1	Short stature, Hypospadias, Phimosis, Bulbous nose, Renal hypoplasia, Cleft palate, Wide nasal br...	OMIM:309500
Rotor Syndrome	Bilirubinuria, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes	ORPHA:3111
Cardiofaciocutaneous Syndrome 1	Short stature, Premature birth, Polyhydramnios, Anteverted nares, Depressed nasal bridge, Splenom...	OMIM:115150
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Cryptorchidism, Ob...	ORPHA:96147
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Aarskog-Scott Syndrome	Short stature, Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral crypto...	OMIM:305400
Snijders Blok-Campeau Syndrome	Broad-based gait, Prominent nose, Unsteady gait, Wide nasal bridge, High palate, Attention defici...	OMIM:618205
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Au-Kline Syndrome	High palate, Gastroesophageal reflux, Vesicoureteral reflux, Bifid uvula, Cryptorchidism, Lipomye...	OMIM:616580
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Wide nose, Small for gestational age, Anteverted nares, Proportionate short sta...	ORPHA:391408
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Renal malrotation, Short stature, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ...	OMIM:615866
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Short stature, Hypospadias, Spina bifida, Apla...	ORPHA:84
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, Horseshoe kidney, ...	ORPHA:93260
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ...	OMIM:618641
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Myopathy, Abdominal obesity, Muscular dystro...	OMIM:615980
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi...	OMIM:615873
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Ataxia, Short stature, Cachexia, Ileus, Athetosis, Self-mut...	ORPHA:52503
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Disproportion...	ORPHA:93298
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Asplenia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Esophageal atre...	OMIM:265380
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:607748
Beckwith-Wiedemann Syndrome	Ureteral duplication, Polyhydramnios, Large for gestational age, Congenital diaphragmatic hernia,...	ORPHA:116
Fg Syndrome 3	Death in infancy, Hyperactivity, Pyloric stenosis, Cryptorchidism, Joint contracture	OMIM:300406
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Depressed nasal bridge, Cryptorchidism, Bulbous ...	OMIM:619103
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Depressed nasal bridge, Aggressive behavior, Breech presentation, Cryptorchidism, ...	OMIM:615824
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva...	OMIM:613070
Donnai-Barrow Syndrome	Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Depressed nasal bridge, Bro...	OMIM:222448
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Cryptorchidism, Abnormal mesentery morphology, Functional abnormality of t...	ORPHA:2953
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nose, High, ...	ORPHA:435638
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, Tongue thrusting,...	OMIM:619580
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper...	OMIM:618183
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Dehydration, Abnormal tubulointerstitial morphology, Growth delay, Renal tubul...	ORPHA:411629
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short stature, Hypospadias, Anteverted nares, Underdeveloped nasal alae, Postnatal growth retarda...	OMIM:613026
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Dysphagia, Loss of ambulation, Emotional lability, Abnormal repetitive mannerisms	ORPHA:79264
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Anteverted nares, Depressed nasal bridge, Bulbous nose, M...	OMIM:614105
Fraser Syndrome	Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ...	ORPHA:2052
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Fetal polyuria, Small for gestational age, Short stature, Polyhydramnios, Renal...	OMIM:241200
Micro Syndrome	Hypoplasia of penis, Short stature, Anteverted nares, Cryptorchidism, Wide nasal bridge, Abnormal...	ORPHA:2510
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Inability to walk, Flexion contracture, Wide nasal bridge, Facial dipleg...	OMIM:218000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenitis...	OMIM:615895
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Aggressive behavior, Narrow palate, Self-injurious behavior, Ga...	ORPHA:313892
Rhombencephalosynapsis	Aganglionic megacolon, Ataxia, Anteverted nares, Esophageal atresia, Abnormal renal morphology, T...	ORPHA:59315
Achondrogenesis	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Hydrops fetal...	ORPHA:932
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Broad nasal tip, Abnormal renal morphology, Wide nasal bridge, Cleft palat...	OMIM:239300
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Vesi...	OMIM:301068
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Acute myeloid leukemia, Small f...	OMIM:260400
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H...	ORPHA:227990
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Decreased testicular size, Hyperactivity, Short stature, Hypospadias, Anteverted nares, Protrudin...	OMIM:309580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Ureteral stenosis, Ataxia, Anteverted nares, Large for gestational age, Depressed na...	OMIM:615398
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A...	OMIM:276700
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased fetal movement, Wide nose, Short stature, Anteverted nares, Unilateral renal agenesis, ...	OMIM:213980
Adenylosuccinase Deficiency	Skeletal muscle atrophy, Hyperactivity, Anteverted nares, Aggressive behavior, Inability to walk,...	OMIM:103050
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph...	OMIM:188400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Aggressive behavior, Gait ataxia, High palate, Compulsive behaviors, Attent...	ORPHA:476126
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Severe temper tantrums, Obesity, Short nose, Stereotypical hand wringing	OMIM:619854
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Myopathy, Limb-girdle muscular dystro...	ORPHA:369840
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Ataxia, Emotional lability, Agitation, Lethargy, Failure to thrive, Abnormal repeti...	ORPHA:927
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Single umbilical artery, Intestinal atresia, Anemia, Duodenal at...	ORPHA:3405
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Ataxia, Short nose	ORPHA:833
Congenital-Onset Steinert Myotonic Dystrophy	Decreased fetal movement, Hyperactivity, Facial hypotonia, Premature birth, Polyhydramnios, Obesi...	ORPHA:589821
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Short stature, Palpebral edema, Unilateral renal agenesis, Anteverted nares,...	OMIM:181270
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Polyhydramnios, Contractures of the large joints, Hi...	ORPHA:329178
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Splenomegaly, Abnormality of skeletal muscle fiber size, Polycystic...	ORPHA:2348
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Decreased fetal movement, Anal stenosis, Aganglionic megacolon, Short stature, Broad nasal tip, I...	OMIM:614207
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol...	OMIM:612563
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Congenital Generalized Lipodystrophy	Hepatomegaly, Polycystic ovaries, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Failure t...	ORPHA:528
Congenital Myopathy 22B, Severe Fetal	Polyhydramnios, Flexion contracture, High palate, Generalized amyotrophy, Waddling gait, Hepatome...	OMIM:620369
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hyperactivity, Small for gestational age, Short stature, Hypospadias, Aggressive b...	OMIM:619148
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Cryptorchidism, Wide nasal bridge, Neutropenia, Abnormal repetitive mannerisms,...	OMIM:618067
Sarcoidosis	Abnormal nasal mucosa morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial ne...	ORPHA:797
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Mednik Syndrome	Death in infancy, Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Death ...	OMIM:609313
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Megaloblastic an...	OMIM:277380
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Hypospadias, Multiple joint contractures, Unilateral renal agenesis, Ankle ...	ORPHA:468631
Chromosome 10Q26 Deletion Syndrome	Broad-based gait, Hyperactivity, Short stature, Small for gestational age, Scapular winging, Aggr...	OMIM:609625
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Feingold Syndrome 1	Accessory spleen, Decreased fetal movement, Jejunal atresia, Anteverted nares, Polyhydramnios, As...	OMIM:164280
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Small for gestational age, Hypospadias, Urethr...	OMIM:107480
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ...	ORPHA:71212
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Fetal polyuria, Hyperparathyroidism, Small for gestational age, Short stature, ...	OMIM:601678
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Wide nasal bridge, Obesity, Narrow palate, Gastroesophageal reflux, Short nose	OMIM:620250
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy, Miscarriage, Hepatic steatosis	OMIM:613877
C Syndrome	Hepatomegaly, Short stature, Anteverted nares, Cryptorchidism, Wide nasal bridge, Renal cortical ...	OMIM:211750
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Hyperactivity, Torticollis, Wide nasal ridge, Prominent nose, Postnatal ...	ORPHA:251061
Achondrogenesis Type 1A	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Hydrops fetal...	ORPHA:93299
Van Esch-O'Driscoll Syndrome	Short stature, Depressed nasal bridge, Impulsivity, Esophageal atresia, Tracheoesophageal fistula...	OMIM:301030
Bartter Syndrome Type 4	Small for gestational age, Premature birth, Polyhydramnios, Renal salt wasting, Increased urinary...	ORPHA:89938
Lethal Kniest-Like Dysplasia	Edema, Mesomelic/rhizomelic limb shortening, Polyhydramnios, Breech presentation, Abnormal cartil...	ORPHA:2347
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Short stature, Aggressive behavior, Prominent nose, Irritability, Lymphopenia, Abn...	ORPHA:391307
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Kleefstra Syndrome 1	Hypospadias, Anteverted nares, Protruding tongue, Aggressive behavior, Cryptorchidism, Abnormal r...	OMIM:610253
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Primary Ciliary Dyskinesia	Nasal polyposis, Intestinal malrotation, Asplenia, Nasal congestion, Chronic rhinitis, Polysplenia	ORPHA:244
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypospadias, Renal salt wasting, Cryptorchidism, Dehydration, Adrenocorticotropic hormone excess,...	ORPHA:90791
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Anteverted nares, Short stature, Depressed nasal bridge, Small for g...	OMIM:613320
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Generaliz...	ORPHA:160
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Death in infancy, 4-hydroxyphenylacetic aciduria, Polyhydramnios, ...	OMIM:617156
Warburg Micro Syndrome 3	Decreased muscle mass, Postnatal growth retardation, Inability to walk, Flexion contracture, Narr...	OMIM:614222
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Short stature, Anteverted nares, Cachex...	ORPHA:109
Baraitser-Winter Syndrome 1	Short stature, Anteverted nares, Postnatal growth retardation, Cryptorchidism, Wide nasal bridge,...	OMIM:243310
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Premature birth, Elevated circulating luteinizing hormone level, Renal salt wasting, Abnormality ...	ORPHA:168558
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short stature, Intestinal malrotation, Anteverted nares, Velopharyngeal insufficiency, Submucous ...	OMIM:614701
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Short stature, Ataxia, Micronodular cirrhosis, Obesi...	ORPHA:98907
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Death in infanc...	OMIM:300972
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s...	ORPHA:79083
13Q12.3 Microdeletion Syndrome	Hyperactivity, Short stature, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Cryptor...	ORPHA:412035
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Short stature, Aplasia/Hypoplasia of the tongue, Facial palsy, Anteverte...	ORPHA:1358
Trisomy 20P	Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Spina bifida, Anteverted nares, ...	ORPHA:261318
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Premature birth, Elevated circulating luteinizing hormone level, Renal salt wasting, Abnormality ...	ORPHA:289548
Codas Syndrome	Hydroureter, Anteverted nares, Short stature, Depressed nasal bridge, Extrahepatic biliary duct a...	ORPHA:1458
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Gastroesop...	ORPHA:449291
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Irritability,...	OMIM:212138
Fetal Hydantoin Syndrome	Thickened nuchal skin fold, Short stature, Cryptorchidism, Depressed nasal ridge, Cleft palate, I...	ORPHA:1912
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Short stature, Wide nasal bridge, Cleft palate	OMIM:614078
Orofaciodigital Syndrome Type 4	High, narrow palate, Depressed nasal ridge, Bifid uvula, Perineal fistula, Absent crus of helix, ...	ORPHA:2753
Acromicric Dysplasia	Bulbous nose, Severe short stature, Anteverted nares, Short nose	ORPHA:969
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Premature birth, Edema, Splenomegaly, Jaundice, Gastroin...	ORPHA:90051
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Cryptorchidism, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Ab...	OMIM:618917
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Prominent nasal bridge, Broad nasal tip, Inability to walk, Bulbous nose, Abnor...	ORPHA:411986
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Compu...	ORPHA:199
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Pituitary adenoma, Primary hyperparathyroidism, Nephrolithiasis...	ORPHA:189427
Tetrasomy 18P	Achalasia, Gait disturbance, Short nose	ORPHA:3307
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture,...	OMIM:300868
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Wid...	OMIM:301029
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Facial hypotonia, Diastasis recti, Supernumerary nipple, Gait ataxia, Gastroesophageal reflux, Hi...	OMIM:616579
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Hyperactivity, Small for gestational age, Short stature, Impu...	OMIM:610443
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Small for gestational age, Short stature, Hypospadias, Ataxia, Depressed nas...	OMIM:300661
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Spastic gait, Dysmetria, Growth delay, Facial diplegia, Attent...	OMIM:619121
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Short nose, Impulsivity	OMIM:300143
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ...	OMIM:203800
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology...	ORPHA:1666
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Ataxia, Dysuria, Malabsorption, ...	ORPHA:3463
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Thrombocytopenia, My...	ORPHA:99901
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Prominent nasal bridge, Convex nasal ridge, Protruding tongue, Postnatal growth re...	OMIM:212066
Peters-Plus Syndrome	Ureteral duplication, Rhizomelia, Hypospadias, Polyhydramnios, Bilobate gallbladder, Postnatal gr...	OMIM:261540
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Ketonuria, Failure to t...	ORPHA:247598
Lamb-Shaffer Syndrome	Hyperactivity, Mild postnatal growth retardation, Ataxia, Broad nasal tip, Abnormal temper tantru...	ORPHA:530983
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Growth delay, Nephrotic syndrome, Glomerula...	OMIM:619428
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Sho...	OMIM:227646
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal omphalitis, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, Hepatomegaly...	OMIM:612541
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Long nose, I...	ORPHA:508533
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R...	ORPHA:228308
Al Amyloidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Renal insufficiency, Gastrointestinal he...	ORPHA:85443
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Short stature, Postnatal gr...	ORPHA:79240
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Hyperactivity, Restlessness, Short stature, Anteverted nares, Depressed nasal bridg...	OMIM:252940
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Short stature, Choanal atresia, Bifid nasal tip, Depressed...	ORPHA:1791
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Prominent nose, Long nose, Cryptorchidism, Gait ataxia, Low frustration tolerance,...	OMIM:300486
Primary Dystonia, Dyt13 Type	Torticollis, Abnormal repetitive mannerisms	ORPHA:98807
Distal Deletion 12Q	Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Self-mut...	ORPHA:96149
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr...	OMIM:615381
Familial Chylomicronemia Syndrome	Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Depression, Recurrent pancrea...	ORPHA:444490
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Small for gestational age, Short stature, Malabsorption...	OMIM:601675
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Hydroureter, Anteverted nares, Increased nuchal translucency, Short nose, Hypertro...	ORPHA:280633
Jacobsen Syndrome	Hypospadias, Anteverted nares, Depressed nasal bridge, Pyloric stenosis, Cryptorchidism, Flexion ...	OMIM:147791
Pde4D Haploinsufficiency Syndrome	Prominent nasal tip, Hypospadias, Depressed nasal bridge, Prominent nose, Postnatal growth retard...	ORPHA:439822
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Anteverted nares, Elevated circulating aspartate aminotr...	OMIM:618528
Chops Syndrome	Short stature, Anteverted nares, Splenomegaly, High, narrow palate, Cryptorchidism, Obesity, Hors...	OMIM:616368
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi...	ORPHA:33543
Atelosteogenesis, Type Ii	Death in infancy, Depressed nasal bridge, Lacunar halos around chondrocytes, Cleft palate, Stillb...	OMIM:256050
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Disproportionate short-limb ...	OMIM:269250
Zttk Syndrome	Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Depressed nasal bridge, B...	OMIM:617140
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Diastasis recti, Polyhydramnios, Large for gestational age, Postnatal ...	ORPHA:254534
Abetalipoproteinemia	Fat malabsorption, Ataxia, Acanthocytosis	OMIM:200100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Inability to walk, Bulbous nose, Wide nasal bridge, Cleft palate, Gait disturbance...	OMIM:618571
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor...	ORPHA:537
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Nocturia, Dehydration, Rhinitis, Anemia	ORPHA:230
Developmental And Epileptic Encephalopathy 64	Anteverted nares, Depressed nasal bridge, Broad nasal tip, Inability to walk, Self-injurious beha...	OMIM:618004
White-Kernohan Syndrome	Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Horses...	OMIM:619426
Dend Syndrome	Short nose, Anteverted nares, Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Obesity, Anteriorly placed anus, Single umbilical artery, H...	OMIM:618653
Waardenburg Syndrome Type 1	Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, C...	ORPHA:894
Short Stature, Brussels Type	Growth delay, Short stature, Calcification of cartilage, Horseshoe kidney	ORPHA:2867
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Gait ataxia, 3-Methylglutaconic aciduria, Delayed puberty, Short nose, Lower limb...	ORPHA:496790
Lathosterolosis	Elevated hepatic transaminase, Anteverted nares, Bilobate gallbladder, Increased mean platelet vo...	OMIM:607330
Congenital Macroglossia	Macroglossia, Abnormal hepatic glycogen storage	ORPHA:2430
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly	OMIM:618291
Icf Syndrome	Short stature, Depressed nasal bridge, Abnormality of neutrophils, Malabsorption, Protruding tong...	ORPHA:2268
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Unilateral cryptorchidism, Postnatal growth retardation, Flared nostrils,...	OMIM:206920
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Houge-Janssens Syndrome 3	Broad nasal tip, Self-injurious behavior, High palate, Attention deficit hyperactivity disorder, ...	OMIM:618354
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Greenberg Dysplasia	Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Depre...	OMIM:215140
Hypoglossia With Situs Inversus	Asplenia, Microglossia, High palate, Polysplenia	OMIM:612776
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac...	ORPHA:89842
White-Sutton Syndrome	Duplicated collecting system, Abnormality of the gastrointestinal tract, Hyperactivity, Short sta...	ORPHA:468678
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Anterior pituitary hypoplasia, Proportionate short stature, Unilateral cr...	OMIM:613457
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Smith-Kingsmore Syndrome	Depressed nasal bridge, Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism, U...	OMIM:616638
Scedosporiosis	Abnormal renal morphology, Pleural empyema, Abnormal jejunum morphology	ORPHA:449280
Ulbright-Hodes Syndrome	Abnormal penis morphology, Depressed nasal bridge, Postnatal growth retardation, Cryptorchidism, ...	ORPHA:3404
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Recurrent upper respiratory tract infections, Severe postnatal growth ...	ORPHA:3078
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Cleft palate, Oligosacchariduria, High palate, Short nose	ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal...	OMIM:613154
19P13.13 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Increased nuchal translucency, Functional abnormality o...	ORPHA:357001
Alkuraya-Kucinskas Syndrome	Anteverted nares, Depressed nasal bridge, Edema, Pericardial effusion, Micropenis, High palate, C...	OMIM:617822
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Microvesicular hepatic st...	OMIM:611126
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper re...	OMIM:252930
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Camptodactyly, ...	OMIM:610015
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Axial malrotatio...	OMIM:274000
Hypotonia, Ataxia, And Delayed Development Syndrome	Decreased fetal movement, Broad-based gait, Short stature, Ataxia, Anteverted nares, Broad nasal ...	OMIM:617330
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Ragged-red ...	OMIM:124000
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Short stature, Elbow contracture, Bulbous nose, Cleft palate, Compulsive behaviors, Atten...	OMIM:615656
16P13.11 Microdeletion Syndrome	Short stature, Camptodactyly of finger, Anteverted nares, Depressed nasal bridge, Cryptorchidism,...	ORPHA:261236
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
4Q21 Microdeletion Syndrome	Depressed nasal bridge, Growth delay, Self-injurious behavior, Intrauterine growth retardation, A...	ORPHA:238750
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Facial hypotonia, Limb jo...	ORPHA:404454
5Q14.3 Microdeletion Syndrome	Anteverted nares, Abnormal repetitive mannerisms, Short nose	ORPHA:228384
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Short stature, Choanal atresia, Esophageal atresia, Cleft palate, Short nose	OMIM:610536
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Lymphedema, Spina bifida, Cryptorchidism, Renal transitional cell carcinoma, Un...	ORPHA:2874
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Abnormality of the kidney, ...	ORPHA:857
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Hypospadias, Prominent nasal bridge, Cryptorchidism, Umbilical hernia, Abnormal...	ORPHA:500159
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Red-brown urine, Myopathy, Myoglobin...	ORPHA:228305
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Gastroesophageal reflux, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive manneri...	ORPHA:353281
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Prominent nose, Postnatal growth retardation,...	OMIM:210900
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Myoglobinuria, ...	OMIM:231530
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Thickened nuchal skin fold, Death in infancy, Ketonuria, Small for gestational age, Hypospadias, ...	OMIM:220111
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Cartilage...	ORPHA:829
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Polyhydramnios, Asplenia, Posteriorly placed anus, Myelomeningocele...	OMIM:306955
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly	OMIM:618651
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares	OMIM:618506
Alazami Syndrome	Wide nose, Abnormal eating behavior, Postnatal growth retardation, Abnormal repetitive mannerisms...	ORPHA:319671
Ruvalcaba Syndrome	Cryptorchidism, Abnormal localization of kidney, Hematuria, Delayed puberty, Intrauterine growth ...	ORPHA:3121
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Short stature, Failure to thrive in infancy, Premature...	ORPHA:1340
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Harel-Yoon Syndrome	Inability to walk, Distal amyotrophy, Ataxia, Short nose	OMIM:617183
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly...	ORPHA:329971
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed...	ORPHA:1529
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Depressed nasal bridge, ...	OMIM:619127
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat...	OMIM:261680
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Depressed nasal bridge, Overweight, High, narrow palate, Head-banging, Hematochezi...	OMIM:619575
Maternal Phenylketonuria	Hyperactivity, Anteverted nares, Esophageal atresia, Abnormal renal morphology, Wide nasal bridge...	ORPHA:2209
Trisomy 8P	Multiple joint contractures, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Fetal pyel...	ORPHA:264450
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating alanine aminotransferase concentration, Cholestasis...	OMIM:614300
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Short stature, Anteverted nares, Broad nasal tip, Postnatal growth retarda...	ORPHA:357074
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Polyhydramnios, Congenital diaphragmatic hernia, High,...	ORPHA:373
Kniest Dysplasia	Hip contracture, Rhizomelia, Depressed nasal bridge, Disproportionate short-trunk short stature, ...	OMIM:156550
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Cryptorchidism,...	OMIM:614294
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Thrombocytopenia, Flexion con...	ORPHA:505248
Fg Syndrome 5	Anteverted nares, Short nose, Hypospadias, Depressed nasal bridge	OMIM:300581
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Stickler Syndrome Type 1	Short nose, Cleft palate	ORPHA:90653
Developmental And Epileptic Encephalopathy 6B	Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia	OMIM:619317
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Urinary incontinence, Hiatus hernia, Urinary urgency, Urinary hesitancy, Nocturia	OMIM:609727
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Anal stenosis, Short stature, Hyperactivity, Rhabdomyosarcoma...	OMIM:251260
Desbuquois Dysplasia 1	Waddling gait, Severe short stature, Depressed nasal bridge, Obesity, Growth delay, Concave nasal...	OMIM:251450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Depressed nasal bridge, Polyhydramnios, Supernumerary nipple, Cryptorchidism...	ORPHA:1812
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Short stature, Hypospadias, Unilateral renal agenesis, Aggressive b...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, ...	OMIM:618504
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Head-banging	OMIM:619356
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Short statu...	ORPHA:98908
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Facial hypotonia, Short nose, High palate, Camptodactyly	OMIM:615539
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Intestinal malrotation, Polyhydramnios, Gastrointestinal atresia, He...	ORPHA:436252
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ...	OMIM:610217
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Short...	ORPHA:93259
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft palate, Short columella, I...	ORPHA:364577
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Gastroin...	OMIM:229600
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Anteverted nares, Inability to walk, Bulbous nose, Short nose, Failure t...	OMIM:616420
Whim Syndrome	Abnormal small intestine morphology, Lymphadenitis, Recurrent upper respiratory tract infections,...	ORPHA:51636
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Low hanging columella, Wide nasal bridge...	OMIM:615803
Fetal Alcohol Syndrome	Anteverted nares, Short stature, Congenital diaphragmatic hernia, Cleft palate, Intrauterine grow...	ORPHA:1915
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protruding to...	OMIM:200600
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Skeletal myopathy,...	ORPHA:746
Tetrasomy 5P	Anteverted nares, Postnatal growth retardation, Aplasia/Hypoplasia of the abdominal wall musculat...	ORPHA:3309
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
20Q11.2 Microduplication Syndrome	Palpebral edema, Anteverted nares, Depressed nasal bridge, Periorbital edema, Cryptorchidism, Wid...	ORPHA:363659
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Short stature, Congenital diaphragmatic hernia	OMIM:300887
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Short nose, Anteverted nares, Wide nasal bridge	OMIM:618577
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, High palate, Intrauterine growth retardation, Short nose, Failure to thrive	OMIM:219200
Ohdo Syndrome	Anteverted nares, Short stature, Depressed nasal bridge, Proteinuria, Cryptorchidism, Wide nasal ...	OMIM:249620
Zygomycosis	Periorbital edema, Unusual gastrointestinal infection, Colitis, Neutropenia, Nephritis, Premature...	ORPHA:73263
Rett Syndrome, Congenital Variant	Depressed nasal bridge, Bulbous nose, Tongue thrusting, Irritability, Athetosis, Gastroesophageal...	OMIM:613454
Poland Syndrome	Duplicated collecting system, Encephalocele, Hypospadias, Congenital diaphragmatic hernia, Renal ...	ORPHA:2911
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Lacrimoauriculodentodigital Syndrome	Choanal atresia, Cryptorchidism, Xerostomia, Renal hypoplasia, Anosmia, Bifid uvula, Dysphagia, V...	ORPHA:2363
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Short stature, Anteverted nares, Aggressive behavior, High, narrow palate, B...	OMIM:601358
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Attention deficit...	OMIM:620073
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Anteverted nares, Short stature, Short nose	ORPHA:2701
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy, Ataxia	OMIM:275630
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Brachytelephalangic Chondrodysplasia Punctata	Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Increased nuchal tran...	ORPHA:79345
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran...	OMIM:227810
Phocomelia, Schinzel Type	Hypoplasia of penis, High, narrow palate, Cryptorchidism, Disproportionate short stature, Meningo...	ORPHA:2879
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abn...	ORPHA:760
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Short stature, Depressed nasal bridge, Inappropriate laughter, Failure t...	OMIM:615802
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, High palate, Gastroesophageal reflux, Compulsive behaviors, Vesicoureteral reflux...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, High palate, Gastroesophageal reflux, Compulsive behaviors, Vesicoureteral reflux...	ORPHA:353277
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Gapo Syndrome	Hepatomegaly, Anteverted nares, Facial palsy, Depressed nasal bridge, High, narrow palate, Growth...	OMIM:230740
Meier-Gorlin Syndrome 6	Severe short stature, Small for gestational age, Anteverted nares, Depressed nasal bridge, Underd...	OMIM:616835
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased fetal movement, Decreased muscle mass, Short stature, Small for gesta...	OMIM:194190
Pitt-Hopkins Syndrome	Fetal nuchal edema, Supernumerary nipple, Cryptorchidism, Flared nostrils, Wide nasal bridge, Gai...	OMIM:610954
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Long nose, High palate, Pelvic kidney, Abnormal repetit...	OMIM:619522
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, High, narrow palate, Flexion contracture, Anteriorly placed anus, Abnormal o...	ORPHA:95699
14Q22Q23 Microdeletion Syndrome	Decreased fetal movement, Short stature, Anterior pituitary hypoplasia, Underdeveloped nasal alae...	ORPHA:264200
Restrictive Dermopathy 1	Ureteral duplication, Spontaneous chorioamniotic separation, Decreased fetal movement, Hypospadia...	OMIM:275210
Fibrochondrogenesis 1	Rhizomelia, Anteverted nares, Depressed nasal bridge, Hydrops fetalis, Cleft palate, Stillbirth, ...	OMIM:228520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Ataxia, Urinary incontinence, Polyhydramnios, Growth...	ORPHA:496641
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia, Spinal dysraphism	OMIM:612918
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Failure to th...	OMIM:210200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Short stature, High palate, Short nose, Spina bifida occulta	OMIM:617877
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Joubert Syndrome 6	Ataxia, Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthis...	OMIM:610688
Brucellosis	Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Hepatomegaly, Premature birth, Leu...	ORPHA:1304
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Ureteral stenosis, Hypospadias, Hydroureter, Anteverted nares, D...	OMIM:269150
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Decreased liver function, Prolonged neonatal jaundice, Short...	OMIM:618437
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Encephalocele, Pancreatic f...	ORPHA:564
Raine Syndrome	Death in infancy, Hydroureter, Short stature, Depressed nasal bridge, Choanal atresia, Protruding...	OMIM:259775
Non-Distal Duplication 13Q	Cryptorchidism, Short nose, High palate	ORPHA:1702
Atelosteogenesis, Type I	Encephalocele, Rhizomelia, Premature birth, Polyhydramnios, Depressed nasal bridge, Cryptorchidis...	OMIM:108720
Mucopolysaccharidosis Type 3	Adenoiditis, Flexion contracture, Loss of ambulation, Thick nasal alae, Hepatomegaly, Hyperactivi...	ORPHA:581
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Narrow nasal ridge, Flexion contracture, Stage 5 chronic kidney disease...	OMIM:608612
Rett Syndrome	Skeletal muscle atrophy, Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Diffic...	ORPHA:778
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Wide nasal ...	OMIM:300749
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Short stature, Hypospadias, Choanal atresia, Cryptorchidism, C...	OMIM:617063
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Lethargy	OMIM:600649
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol...	OMIM:207800
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Broad-based gait, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death i...	OMIM:616457
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal...	ORPHA:397715
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Short stature, Ataxia, Anteverted nares, Depressed nasal bridge, Cryptorchidis...	ORPHA:2719
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Gliosis	OMIM:619847
Choreoacanthocytosis	Peroneal muscle atrophy, Compulsive behaviors, Loss of ambulation, Muscle fiber atrophy, Hepatome...	ORPHA:2388
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Failure to thrive in infancy, Poly...	ORPHA:1308
Distal Duplication 17Q	Accessory spleen, Hyperactivity, Severe short stature, Rhizomelia, Short stature, Depressed nasal...	ORPHA:3379
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscul...	OMIM:608594
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Spina bifida occulta, Renal duplication, Intestinal fistula...	ORPHA:709
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Cenani-Lenz Syndrome	Renal hypoplasia/aplasia, High, narrow palate, Crossed fused renal ectopia, Convex nasal ridge, S...	ORPHA:3258
Kaufman Oculocerebrofacial Syndrome	Anteverted nares, Short stature, Intestinal malrotation, Depressed nasal bridge, High palate, Sho...	OMIM:244450
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Anteverted nares, Bruxism, Abnormal repetitive mannerisms, Oligohydramnios	OMIM:616351
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Cleft palate, Anteriorly p...	OMIM:217980
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Progressive flexion contractures, Repetitive compulsive behavior, Self-biting, Choreoathe...	ORPHA:522077
Schinzel-Giedion Syndrome	Renal cyst, Anteriorly placed anus, High palate, Choanal stenosis, Hepatoblastoma, Micropenis, My...	ORPHA:798
Poikiloderma With Neutropenia	Depressed nasal bridge, Short stature, Edema, Underdeveloped nasal alae, Splenomegaly, Growth del...	OMIM:604173
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Plaa-Associated Neurodevelopmental Disorder	Edema of the dorsum of feet, Edema of the dorsum of hands, Contractures of the large joints, High...	ORPHA:521426
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Aggressive behavior, H...	OMIM:309800
Autosomal Dominant Omodysplasia	Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Cryptorchidism, Short nose	ORPHA:93328
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Large for gestational age, Flexion contracture, Hepatoblastoma, Hepatomegaly, Sho...	ORPHA:96334
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Depressed nasal bridge, Urinary incontinence, Hair-pu...	ORPHA:447997
Stuve-Wiedemann Syndrome 1	Death in infancy, Short stature, Anteverted nares, Low hanging columella, Short nose, Elbow flexi...	OMIM:601559
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Prominent nasal tip, Nail-biting, Broad-based gait, Aggressive behavior, Broad nasal tip, Hair-pu...	OMIM:620330
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palat...	ORPHA:1790
Odontochondrodysplasia	Death in infancy, Depressed nasal bridge, Short stature, Short nose	ORPHA:166272
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
Edinburgh Malformation Syndrome	Short nose, Failure to thrive, Anteverted nares, Choanal atresia	ORPHA:1895
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Proportionate short stature, Renal cyst, Self-i...	ORPHA:488618
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Abnormal repetitive mannerisms, Prominent nasal bridge	OMIM:619877
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Edema, Contractures of the large joints, High palate, Dysphagia, Short nose, Failure to thrive, H...	OMIM:617527
Robinow Syndrome, Autosomal Dominant 2	Short stature, Cleft soft palate, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Cleft...	OMIM:616331
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms, Ataxia, Gait ataxia	OMIM:619092
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis, Polycystic ovaries	OMIM:604367
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Flexion contracture, Irritability, Short nose, Failure to thrive	OMIM:615851
Congenital Tracheal Stenosis	Abnormality of the kidney, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, 5-minute A...	ORPHA:141127
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta, Short stature	ORPHA:1514
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Rhizomelia, Anteverted nares, Short stature, Cryptorchidism, Increased nu...	ORPHA:93329
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose, Death in childhood	OMIM:618961
Tetraamelia Syndrome 1	Renal agenesis, Choanal atresia, Congenital diaphragmatic hernia, Asplenia, Single naris, Cleft p...	OMIM:273395
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Robinow Syndrome, Autosomal Dominant 3	Short stature, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Cleft...	OMIM:616894
Peho Syndrome	Short nose, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands	OMIM:260565
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Narrow nasal ridge, Splenomegaly, Pancreatitis, Proximal upper limb muscle hypertro...	ORPHA:280365
Short Stature, Developmental Delay, And Congenital Heart Defects	Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C...	OMIM:617044
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Short stature, Cachexia	ORPHA:1389
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Congenital diaphragmatic h...	OMIM:613406
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ...	ORPHA:168491
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Colchicine Poisoning	Leukocytosis, Renal insufficiency, Oliguria, Dehydration	ORPHA:31824
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Bulbous nose, Unsteady gait, ...	OMIM:616682
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardati...	ORPHA:163966
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Hypospadias, Short stature, Facial palsy, Prominent nasal bridge, ...	OMIM:619325
Bartsocas-Papas Syndrome	Short nose, Underdeveloped nasal alae, Cleft palate, Renal hypoplasia/aplasia	ORPHA:1234
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Exagge...	OMIM:312870
Toluene Embryopathy	Short stature, Cryptorchidism, Abnormal localization of kidney, Short nose, Hydronephrosis	ORPHA:1920
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Polyhydramnios, Wide nasal bridge, Hydrocele testis, Short columella, Shor...	OMIM:613603
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Irritability, Hepatic st...	ORPHA:348
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Short stature, Cleft palate	ORPHA:79113
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchid...	OMIM:618820
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A...	OMIM:612394
Acrofacial Dysostosis, Catania Type	Short stature, Premature birth, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Sho...	ORPHA:1786
Acrocallosal Syndrome	Hypospadias, Protruding tongue, Postnatal growth retardation, Cryptorchidism, Short nose, Wide na...	OMIM:200990
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Anteverted nares, Camptodact...	ORPHA:1507
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic s...	ORPHA:435651
Megalocornea-Intellectual Disability Syndrome	Short stature, Ataxia, Wide nasal bridge, High palate, Abnormal repetitive mannerisms	ORPHA:2479
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Growth delay, Increased u...	OMIM:252160
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Hyperactivity, Small for gestational age, Short stature, Hypospadias, De...	OMIM:309590
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Inability to walk, Dysmetria, Short nose, Limb hypertonia	OMIM:618087
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi...	OMIM:259900
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Protruding tongue, Short nose, Failure to thrive	ORPHA:561
Seckel Syndrome 10	Acute pancreatitis, Severe short stature, Elevated circulating aspartate aminotransferase concent...	OMIM:617253
Fontaine Progeroid Syndrome	High, narrow palate, Hypoplasia of the abdominal wall musculature, Anteriorly placed anus, Gastro...	OMIM:612289
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Facial hypotonia, Gait ataxia, Difficulty walking, Abnormal repetitive mannerisms	OMIM:617807
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Congenital fibrosis...	ORPHA:300570
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Moderate Hemophilia A	Gastrointestinal hemorrhage, Hip contracture, Cartilage destruction, Hematuria, Joint swelling, I...	ORPHA:169805
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, High palate, Short stature, Intestinal malrotation	OMIM:619657
Jaberi-Elahi Syndrome	Broad-based gait, Depressed nasal bridge, Inability to walk, Dysmetria, Gait ataxia, Choreoatheto...	OMIM:617988
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short stature, Anosmia, Short nose, Short nasal septum	OMIM:302950
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Proximal muscle weakness in upper limbs, Polycystic ovaries, Skeletal muscle hypert...	ORPHA:435660
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Intestinal malrotation, Prominent nasal bridge, Broad nasal t...	OMIM:616268
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Diastasis recti, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic s...	OMIM:601776
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Short stature, Cleft soft palate, Broad nasal tip, Wide nasal bridge, Camptodac...	OMIM:618529
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Pallister-Hall Syndrome	Ectopic kidney, Large for gestational age, Depressed nasal ridge, Gonadotropin deficiency, Microp...	ORPHA:672
Toriello-Carey Syndrome	Short stature, Aganglionic megacolon, Postnatal growth retardation, Cryptorchidism, Cleft palate,...	ORPHA:3338
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardation, Short nose	OMIM:300863
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Short stature, Miscarriage, Renal salt wasting, Long penis, Testicular adrenal rest tumor, Dehydr...	ORPHA:90794
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke...	ORPHA:2847
Marshall-Smith Syndrome	Short stature, Choanal atresia, Anteverted nares, Depressed nasal bridge, Bilateral cryptorchidis...	OMIM:602535
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Cachexia, Abnormality of the sp...	ORPHA:2072
Slc35A2-Cdg	Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:356961
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Ataxia, Ac...	OMIM:203700
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia	OMIM:605376
Cadds	Elevated hepatic transaminase, Cholangitis, Cholestasis, Intrauterine growth retardation, Short nose	ORPHA:369942
Al-Raqad Syndrome	Inability to walk, Short nose, Gait ataxia	OMIM:616459
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Proteinuria, Polycystic ovaries,...	ORPHA:79086
Spondyloepiphyseal Dysplasia Tarda	Abnormal cartilage morphology, Disproportionate short-trunk short stature, Cleft palate, Joint sw...	ORPHA:93284
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Palpebral edema, Polyhydramnios, Fetal pyelectasis, Short nose, Failure to th...	ORPHA:50810
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d...	OMIM:613027
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Wide nose, Rhizomelia, Short nose	ORPHA:2831
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Depressed nasal bridge, Aggressive behavior, Obesity, Cleft palate, Hepatosplenomeg...	OMIM:301066
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short stature, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Und...	OMIM:616007
Kniest Dysplasia	Depressed nasal bridge, Disproportionate short stature, Disproportionate short-trunk short statur...	ORPHA:485
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Short stature, Palpebral edema, Ataxia, Hiatus hernia, Aggressiv...	OMIM:614756
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Camptodactyly of finger, Abnormal renal morphology, Cleft pala...	ORPHA:83
Acrodysostosis	Anteverted nares, Short stature, Depressed nasal bridge, Cryptorchidism, Depressed nasal ridge, W...	ORPHA:950
Distal Deletion 9P	Hypospadias, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose	ORPHA:1642
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Abnormal emotion, Urinary incontinence	ORPHA:168782
Opsismodysplasia	Hepatomegaly, Severe short stature, Depressed nasal bridge, Splenomegaly, Short nose	ORPHA:2746
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Decreased muscle mass, Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Pho...	OMIM:234200
Oculodentodigital Dysplasia	Narrow nasal bridge, Neurogenic bladder, Ataxia, Camptodactyly of finger, Anteverted nares, Abnor...	ORPHA:2710
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contract...	ORPHA:2152
Mucopolysaccharidosis Type 2	Hepatomegaly, Hyperactivity, Wide nose, Short stature, Impulsivity, Aggressive behavior, Splenome...	ORPHA:580
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ...	OMIM:617600
Warburg Micro Syndrome 2	Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Flexion contracture, Microp...	OMIM:614225
Marshall Syndrome	Anteverted nares, Short stature, Depressed nasal bridge, Wide nasal bridge, Cleft palate, High pa...	ORPHA:560
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglott...	OMIM:615948
Leprechaunism	Hepatomegaly, Skeletal muscle atrophy, Wide nose, Enlarged ovaries, Postnatal growth retardation,...	ORPHA:508
Pterygium Colli, Isolated	Short nose	OMIM:177990
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly	ORPHA:261250
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Short nose	OMIM:611936
Distal Duplication 5Q	Short stature, Prominent nasal bridge, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the gal...	ORPHA:96097
Histidinemia	Hyperactivity	ORPHA:2157
Cimdag Syndrome	Death in early adulthood, Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Cholelithiasis	OMIM:619273
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Polyhydramnios, Cleft palate, Short nose	ORPHA:1394
Otopalatodigital Syndrome Type 2	Encephalocele, Hypospadias, Camptodactyly of finger, Depressed nasal bridge, Ureteral obstruction...	ORPHA:90652
Bartsocas-Papas Syndrome 1	Decreased fetal movement, Anal stenosis, Ectopic kidney, Underdeveloped nasal alae, Bilateral cry...	OMIM:263650
Teebi Hypertelorism Syndrome 1	Depressed nasal bridge, Short stature, Anteverted nares, Wide nasal bridge, Hydrocele testis, Sin...	OMIM:145420
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Depressed nasal bridge, Aggressive behavior, Hair-pulling, Self-injurious behavior, Vento...	OMIM:616393
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, G...	ORPHA:79408
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat...	ORPHA:3455
Multiple Osteochondromas	Intestinal obstruction, Short stature, Abnormal cartilage morphology, Cervical myelopathy, Urinar...	ORPHA:321
Autism, Susceptibility To, 3	Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Disproportionate short-limb short stature	OMIM:618618
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short stature, Cleft soft palate, Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridg...	ORPHA:2282
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Anal stenosis, Wide nose, Prominent nasal bridge, ...	OMIM:606170
Opsismodysplasia	Rhizomelia, Anteverted nares, Polyhydramnios, Edema, Depressed nasal bridge, Renal phosphate wast...	OMIM:258480
Atypical Werner Syndrome	Abnormality of the Achilles tendon, Renal neoplasm, Skeletal muscle atrophy, Short stature, Conve...	ORPHA:79474
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Inability to walk, Self-injurious b...	ORPHA:457351
Osteoglophonic Dysplasia	Severe short stature, Rhizomelia, Hypospadias, Camptodactyly of finger, Anteverted nares, Depress...	OMIM:166250
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Acute myeloid leukemia, Pancytopenia, Short stature, Hypospadias, Atax...	OMIM:305000
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Renal age...	OMIM:192350
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms, Gastroesophageal reflux, Anteverted nares	OMIM:300672
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Ctcf-Related Neurodevelopmental Disorder	Small for gestational age, Anteverted nares, Phimosis, Broad nasal tip, Cryptorchidism, Cleft pal...	ORPHA:363611
Monosomy 22Q13.3	Renal dysplasia, Hyperactivity, Palpebral edema, Lymphedema, Hair-pulling, Bulbous nose, Obesity,...	ORPHA:48652
Otopalatodigital Syndrome, Type I	Short nose, Short stature, Wide nasal bridge, Cleft palate	OMIM:311300
Aymé-Gripp Syndrome	Short stature, Proteinuria, Congenital diaphragmatic hernia, Depressed nasal bridge, Postnatal gr...	ORPHA:1272
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Asplenia, Cleft hard palate, Flexion contracture, Vesicoureteral reflux, We...	ORPHA:261537
Robinow Syndrome, Autosomal Recessive 1	Short stature, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Short nose, Nephrolithia...	OMIM:268310
Rothmund-Thomson Syndrome, Type 2	Small for gestational age, Short stature, Depressed nasal bridge, Cryptorchidism, Anteriorly plac...	OMIM:268400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Narrow nasal ridge, Cryptorchidism, Fetal pyelectasis, Bulbous nose, Self-injuriou...	OMIM:619512
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Robinow Syndrome	Multicystic kidney dysplasia, Small for gestational age, Short stature, Anteverted nares, Depress...	ORPHA:97360
Larsen-Like Syndrome, Lethal Type	Neonatal death, Abnormal cartilage matrix	OMIM:245650
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Congenital diaphragmatic hernia, Narrow nose, Cleft palate, Gr...	OMIM:301044
Developmental And Epileptic Encephalopathy 100	Decreased fetal movement, Depressed nasal bridge, Protruding tongue, Broad nasal tip, Bilateral c...	OMIM:619777
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Choanal stenosis, High palate, Short nose	OMIM:101600
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Severe short stature, Pyloric stenosis, Pyelonephritis, Ureth...	ORPHA:90349
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Polyhydramnios, Facial edema, Abnormal cartilage matrix, Intrauterine growth retardation, Arthrog...	ORPHA:86822
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Malabsorption, Splenomegaly, Wide nasal bridge, Macroglossi...	ORPHA:93
Nablus Mask-Like Facial Syndrome	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, High palate, Hypopla...	OMIM:608156
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Bradykinesia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, M...	OMIM:619725
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Spina bifida occulta, Short nose	ORPHA:2983
Tuberous Sclerosis Complex	Renal cyst, Pheochromocytoma, Hyperactivity, Abnormality of the kidney, Repetitive compulsive beh...	ORPHA:805
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Desmosterolosis	Failure to thrive, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Cleft palate, Arthrogr...	OMIM:602398
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:572798
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Polyuria, Narrow nasal ridge, Dysmetria, Gait ataxia, Dysdiadochokines...	OMIM:606721
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Depressed nasal bridge, Unilateral renal agenes...	ORPHA:500150
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy,...	ORPHA:447
Oculodentodigital Dysplasia	Narrow nasal bridge, Neurogenic bladder, Ataxia, Anteverted nares, Underdeveloped nasal alae, Cle...	OMIM:164200
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation	ORPHA:565624
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Anteverted nares, Short nose, High palate, Depressed nasal bridge	ORPHA:314655
Keutel Syndrome	Wide nose, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Calcification of car...	ORPHA:85202
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Spina bifida occulta, Short stature, Short nose	ORPHA:1185
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Unsteady gait, Ataxia	OMIM:256600
Marshall Syndrome	Anteverted nares, Short stature, Depressed nasal bridge, Hypoplastic nasal bone, Cleft palate, Sh...	OMIM:154780
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Torticollis, Multiple joint contractures, Anteverted nares, Depressed nasal bridg...	ORPHA:536467
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Short stature, Prominent nasal bridge, Asplenia, Cryptorchid...	ORPHA:221120
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:544488
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Depressed nasal bridge, High palate, Short nose	OMIM:618590
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Cleft hard palate, Flexion contracture, Vesicoureteral reflux, We...	ORPHA:261552
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short stature, Short nose	ORPHA:2835
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Premature birth, Polyhydramnios, Protruding tongue, Anteverted nares, Depressed nasal...	ORPHA:50945
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Hypoplasia of penis, Severe short stature, Short stature, Hypospadias,...	ORPHA:3107
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Tendon xanthomatosis, Renal steatosis, Obesity, Hepatic steatosis	ORPHA:412
Coffin-Lowry Syndrome	Wide nose, Short stature, Anteverted nares, Rectal prolapse, Narrow palate, Thick nasal septum, H...	OMIM:303600
Combined Oxidative Phosphorylation Deficiency 25	Anteverted nares, Short stature, Depressed nasal bridge, Wide nasal bridge, Short nose, Failure t...	OMIM:616430
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly	OMIM:301043
Ring Chromosome 7 Syndrome	Short stature, Hypospadias, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wi...	ORPHA:1449
Peho Syndrome	Palpebral edema, Anteverted nares, Flexion contracture, Pedal edema, Peripheral edema, Arthrogryp...	ORPHA:2836
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Camptodactyly	OMIM:619123
Cerebrooculonasal Syndrome	Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Postnatal growth retardation,...	OMIM:605627
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Cryptorchidism, Cleft palate, Growth delay, Camptodactyly, Short nose, Br...	OMIM:601353
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder, D...	ORPHA:98784
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Hypoplasia of penis, Anosmia, Short nose	ORPHA:1295
Arterial Tortuosity Syndrome	Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Esophagitis, Short nose, Median cleft l...	ORPHA:3342
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Short stature, Anteverted nares, Poly...	OMIM:609942
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Ureterocele, Short nose	OMIM:614863
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Anteverted nares, Depressed nasal bridge, Repetitive compulsive behavior, Cleft...	ORPHA:513456
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms	ORPHA:529965
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Reactive Arthritis	Recurrent urinary tract infections, Cartilage destruction, Weight loss, Joint swelling, Inflammat...	ORPHA:29207
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Proportionate short stature, Cryptorchidism, Narrow pal...	OMIM:227330
Pilarowski-Bjornsson Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms	OMIM:617682
Monosomy 9Q22.3	Hyperactivity, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Umbilical hernia, Ne...	ORPHA:77301
Tracheobronchopathia Osteochondroplastica	Esophagitis, Calcification of cartilage	ORPHA:3348
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Facial hypotonia, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Bulbous no...	OMIM:613458
Microphthalmia, Syndromic 6	Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Microglossia, Failure to thrive, Ant...	OMIM:607932
Pfeiffer Syndrome Type 1	Depressed nasal bridge, High palate, Short nose	ORPHA:93258
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Agenesis of corpus callosum	OMIM:614866
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Hypospadias, Anteverted nares, Decreased response to growth hormone stimulation te...	ORPHA:444077
Pmm2-Cdg	Multiple joint contractures, Lymphedema, Prominent nose, Hepatic fibrosis, High palate, Aplasia o...	ORPHA:79318
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Flexion contracture of finger, Prominent nasal bridge, Narrow nose, Co...	OMIM:601812
Fibrochondrogenesis 2	Short nose, Anteverted nares	OMIM:614524
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Asplenia, Absent outer dynein arms, Anosmia, Chronic rhinitis	OMIM:244400
Aicardi Syndrome	Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil...	OMIM:304050
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Robinow Syndrome, Autosomal Dominant 1	Rhizomelia, Short stature, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal b...	OMIM:180700
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Postnatal growth retardation, Pyelonephritis, Bladder diverticulum, Sm...	ORPHA:90348
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Viss Syndrome	Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro...	OMIM:619472
Spondylocarpotarsal Synostosis Syndrome	Scapular winging, Anteverted nares, Broad nasal tip, Disproportionate short-trunk short stature, ...	OMIM:272460
Monosomy 9P	Hypospadias, Anteverted nares, Congenital diaphragmatic hernia, Depressed nasal bridge, Choanal a...	ORPHA:261112
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Holoprosencephaly 7	Bilateral cleft palate, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Cleft ...	OMIM:610828
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Multiple joint contractures, Short stature, Anteverted nares, Depressed...	ORPHA:536471
Weaver Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:277590
Aromatase Deficiency	Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Obe...	ORPHA:91
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Premature rupture of membranes, Depressed nasal bridge, Short stature, Short nose	OMIM:616723
Femoral-Facial Syndrome	Renal agenesis, Short stature, Abnormal renal collecting system morphology, Underdeveloped nasal ...	OMIM:134780
Mietens Syndrome	Wide nose, Severe short stature, Wide nasal bridge, Short nose	ORPHA:2557
Pallister-Killian Syndrome	Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture...	OMIM:601803
Temtamy Preaxial Brachydactyly Syndrome	Growth delay, Short nose, Short stature	ORPHA:363417
Alkaptonuria	Abnormality of the nose, Cartilage destruction, Nephrolithiasis, Joint swelling, Aminoaciduria, C...	ORPHA:56
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Short nose, Anteverted nares	OMIM:234050
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Short stature, Disproportionate short-trunk short stature, Increased size...	ORPHA:457395
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Broad nasal tip, Obesity, Self-injurious behavior,...	ORPHA:293948
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture,...	OMIM:259050
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Impulsivity, Chronic kidney disease, Growth delay, Aplasia of the swe...	ORPHA:642
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Skeletal muscle hypertrophy, Increased intr...	OMIM:151660
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Anteverted nares, Cachexia, Depressed nasal bridge, Short...	ORPHA:828
Malan Syndrome	Short nose	OMIM:614753
Hydroxykynureninuria	Renal tubular acidosis, Abnormal repetitive mannerisms	ORPHA:79155
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Hypospadias, Cryptorchidism, Wide nasal bridge, Horseshoe kidney, Knee flexion contr...	OMIM:609945
Down Syndrome	Thickened nuchal skin fold, Prenatal double bubble sign, Short stature, Aganglionic megacolon, Pr...	OMIM:190685
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Short stature, Prominent nasal bridge, High palate, Short nose	ORPHA:1974
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation	ORPHA:2822
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Aggressive behavi...	OMIM:309000
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle	OMIM:227650
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Elbow flexion contracture, Depressed nasal ridge, Knee flexion contractur...	OMIM:271665
Geleophysic Dysplasia 2	Hepatomegaly, Short nose, Tip-toe gait, Short stature	OMIM:614185
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Delayed puberty, Short nose, Convex nasal ridge	ORPHA:90154
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptor...	OMIM:618332
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle	OMIM:227645
Geleophysic Dysplasia 1	Hepatomegaly, Short stature, Camptodactyly of finger, Anteverted nares, Short nose, Joint contrac...	OMIM:231050
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Anteverted nares, Rhizomelia, Depressed nasal bridge, Bulbous nose, Disproportionate short-limb s...	OMIM:271510
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Elevated hepatic transaminase, Short nose, Epistaxis	OMIM:277450
Familial Calcium Pyrophosphate Deposition	Joint swelling, Calcification of cartilage	ORPHA:1416
Sponastrime Dysplasia	Aplasia of the nasal bone, Wide nose, Small for gestational age, Rhizomelia, Hypospadias, Antever...	ORPHA:93357
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Prominent nose, Bulbous nose, T...	OMIM:612474
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Aplasia/Hypoplastia of the eccr...	OMIM:305100
Progressive Multifocal Leukoencephalopathy	Abnormal oligodendroglia morphology	ORPHA:217260
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor...	OMIM:229400
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Shor...	ORPHA:1519
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Acromesomelic Dysplasia 1	Short nose, Disproportionate short stature	OMIM:602875
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Omodysplasia 1	Depressed nasal bridge, Rhizomelia, Cryptorchidism, Wide nasal bridge, Disproportionate short-lim...	OMIM:258315
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hypersexuality, Depression, Choreoathetosis, Agitation,...	ORPHA:217253
Ayme-Gripp Syndrome	Depressed nasal bridge, Short stature, Wide nasal bridge, Camptodactyly, Short nose	OMIM:601088
Encephalocraniocutaneous Lipomatosis	Abnormal cartilage morphology	ORPHA:2396
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Norrie Disease	Narrow nasal bridge, Cachexia, Cryptorchidism, Irritability, Self-injurious behavior, Attention d...	ORPHA:649
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:607872
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis, Myocard...	ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation	OMIM:619534

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Igf2bp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Igf2bp1.

No publications found that use IMPC mice or data for Igf2bp1.

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MGI Allele	Allele Type	Produced
Igf2bp1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Igf2bp1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Igf2bp1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Igf2bp1 MGI:1890357

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electroretinography 3

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Igf2bp1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data