Gene Summary

insulin-like growth factor 2 mRNA binding protein 1
D030026A21Rik,  D11Moh40e,  Zbp1,  IMP1,  IMP-1,  Crdbp,  CRD-BP,  D11Moh45

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
hyperactivity Igf2bp1em1(IMPC)J HET Early adult 6.60×10-06
preweaning lethality, complete penetrance Igf2bp1em1(IMPC)J HOM   Early adult 0.00

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Viewing: all phenotypes

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.


XRay Images Whole Body Dorso Ventral

11 Images


XRay Images Skull Lateral Orientation

11 Images

Electrocardiogram (ECG)

Waveform Image

16 Images


XRay Images Forepaw

11 Images


XRay Images Skull Dorso Ventral Orientation

11 Images


XRay Images Whole Body Lateral Orientation

11 Images

Auditory Brain Stem Response

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

8 Images

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.

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 Similarity of
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Depre... ORPHA:280397
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Abnormal intestine morphology, Villous atrophy, Dehydration, Death in infancy OMIM:251850
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Geniospasm 1
Anxiety OMIM:190100
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Intestinal malrotation, Abnormal biliary tract morphology, Multicyst... ORPHA:3032
Cach Syndrome
Premature ovarian insufficiency, Dysmetria, Hepatosplenomegaly, Flexion contracture, Intrauterine... ORPHA:135
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Abnormal pyramidal sign, Portal hypertension, Renal tubular dysfunction, Proteinuria, Motor stere... ORPHA:213
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Senior-Boichis Syndrome
Cholestasis, Aggressive behavior, Reduced number of intrahepatic bile ducts, Anemia, Hyperechogen... ORPHA:84081
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Anemia, Failure to thrive, Malabsorption, Aplasia/Hypopla... ORPHA:33355
Immunodeficiency 31C
Autoimmune hemolytic anemia, Growth delay, Short stature, Abnormal intestine morphology, Villous ... OMIM:614162
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Trichohepatoenteric Syndrome 2
Wide nose, Intrauterine growth retardation, Small for gestational age, Colitis, Hepatomegaly, Fai... OMIM:614602
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Bulbous nose, Overhanging nasal tip, Hydronephrosis, Renal hypoplasia, Inability ... OMIM:618494
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormality of the small intestine, Growth delay, Anemia, Malabsorpti... ORPHA:100025
12Q14 Microdeletion Syndrome
Ectopic kidney, Horseshoe kidney, Intrauterine growth retardation, Skeletal muscle atrophy, Renal... ORPHA:94063
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Cholestasis, Aganglionic megacolon, Abnormality of the small intest... ORPHA:95427
Hadziselimovic Syndrome
High palate, Renal hypoplasia, Anal atresia, Short stature, Failure to thrive, Prominent nasal br... OMIM:612946
Lactase Deficiency, Congenital
Dehydration, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Cryptorchidism, Hepatomegaly, Failure to thrive, Elevated hepati... OMIM:618958
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Even-Plus Syndrome
High palate, Depressed nasal ridge, Severe short stature, Renal hypoplasia, Anal atresia, Recurre... OMIM:616854
Transient Neonatal Diabetes Mellitus
Intrauterine growth retardation, Small for gestational age, Abnormality of the kidney, Macrogloss... ORPHA:99886
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Short stature, Enterocolitis, Failure to thrive, Villous atro... OMIM:616050
Bresek Syndrome
Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Aganglionic megacolon, Growth ... ORPHA:85284
Congenital Tufting Enteropathy
Weight loss, Abnormal small intestinal mucosa morphology, Anal atresia, Choanal atresia, Failure ... ORPHA:92050
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Intrauterine growth retardation, Hydronephrosis, Decreased liver function, Dup... OMIM:617093
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hepatic failure, Hypoplastic anemia, Macronodula... OMIM:557000
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Lymphangiectasis, Hepatomegaly, Failure to thrive, Protein-losing enteropathy, V... OMIM:602579
Diarrhea 5, With Tufting Enteropathy, Congenital
Small for gestational age, Failure to thrive, Villous atrophy OMIM:613217
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Proteinuria, Cholestasis, Anemi... OMIM:619377
17Q21.31 Microduplication Syndrome
High palate, Delayed puberty, Failure to thrive, Anteverted nares, Short nose, Attention deficit ... ORPHA:217340
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased proportion of CD3-positive T cells, Increased stool alpha1... ORPHA:90362
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation, Wide nasal bridge, Dysphagia, Wide nose ORPHA:89844
Fanconi Anemia, Complementation Group F
Leukopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Placental abruption, Cr... OMIM:603467
Trichohepatoenteric Syndrome 1
Bifid uvula, Hepatic failure, Cholestasis, Abnormalities of placenta or umbilical cord, Galactosu... OMIM:222470
Matthew-Wood Syndrome
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Congenital d... ORPHA:2470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Splenomegaly, Pancreatitis, Hepatomegaly, Lethargy, Neutropenia, Anemia, Failure... ORPHA:79312
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Renal hypoplasia, Growth delay, Polysplenia, Decreased response ... OMIM:617784
Congenital Disorder Of Glycosylation, Type Id
High palate, Hypertonia, Bifid uvula, Flexion contracture, Bulbous nose, Wide nasal bridge, Depre... OMIM:601110
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Peroxisomal Acyl-Coa Oxidase Deficiency
Wide nasal bridge, Hepatomegaly, Depressed nasal bridge, Irritability, Elevated hepatic transamin... OMIM:264470
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Chorea, Benign Hereditary
Anxiety OMIM:118700
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Intrauterine growth retardation, Micropenis, Renal hypoplasia, Trach... OMIM:614083
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Memory impairment, Inertia, Anxiety, Dementia, Motor deterioration, Inappropriate behavior, Apath... ORPHA:412066
Pearson Syndrome
Pancytopenia, Glycosuria, Exocrine pancreatic insufficiency, Lacticaciduria, Hepatic failure, Pro... ORPHA:699
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Renal cyst, Anteverted nares, Bulbous nose, Renal hypoplasia, Choanal stenosi... OMIM:236500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Intrauterine growth retardation, Lethargy, Increased level of methylsuccinic a... ORPHA:26792
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Protein-losing enteropathy, Villous atrophy OMIM:615863
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomeruloneph... OMIM:304790
Mirage Syndrome
Hypoplastic spleen, Decreased body weight, Leukopenia, Achalasia, Intrauterine growth retardation... OMIM:617053
Emanuel Syndrome
Unilateral renal agenesis, Bifid uvula, Cryptorchidism, Dysphagia, Oligohydramnios, Cleft palate,... ORPHA:96170
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Spastic tetraparesis, Micropenis, Renal hypoplasia, Cryptorchidism, Obesity, Depr... ORPHA:171839
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Leukopenia, Choreoathetosis, Pancreatitis, Ataxia, Hepatomegaly, Lethargy, Parapare... ORPHA:27
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Anemia, Failure to thrive, Renal insufficiency, Dehydration ORPHA:28
Baker-Gordon Syndrome
Choreoathetosis, Self-injurious behavior, Gastroesophageal reflux, Inability to walk, Involuntary... OMIM:618218
Refractory Celiac Disease
Microcytic anemia, Normocytic anemia, Abnormal spleen physiology, Iron deficiency anemia, Increas... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Cholestasis, Cryptorchidism, Decreased liver function, Hepatomeg... OMIM:608104
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Failure to thriv... OMIM:615237
Emanuel Syndrome
Renal agenesis, High palate, Intrauterine growth retardation, Micropenis, Renal hypoplasia, Gastr... OMIM:609029
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity OMIM:616657
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Cleft palate OMIM:236110
Meier-Gorlin Syndrome 8
Renal hypoplasia, Decreased body weight, Intrauterine growth retardation, Bilateral cryptorchidism OMIM:617564
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Lobar holoprosencephaly, Microcephaly, S... OMIM:609637
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Renal hypoplasia, Wide nasal bridge, Hypoplasia of penis, Single umbilical artery... ORPHA:2256
Marden-Walker Syndrome
High palate, Intrauterine growth retardation, Joint contracture of the hand, Micropenis, Renal hy... OMIM:248700
Netherton Syndrome
Hypereosinophilia, Angioedema, Allergic rhinitis, Failure to thrive, Abnormal intestine morpholog... OMIM:256500
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Hyperactivity, Poor coordination, Aggressive behavior, Recurrent... OMIM:309548
Enteric Anendocrinosis
Dehydration, Portal hypertension, Malabsorption, Cholestatic liver disease ORPHA:83620
Emotional lability, Irritability, Separation insecurity, Claustrophobia, Depression, Impulsivity,... ORPHA:66624
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Intrauterine growth retardation, Small for g... ORPHA:84064
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Renal... OMIM:616817
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Fat malabsorption, Hepatic steatosis, Hepatic failure, Cholestasis, Extramedullary he... ORPHA:79303
Hepatic steatosis, Megacystis, Short stature, Myopathy, Failure to thrive, Abnormality of the uri... ORPHA:977
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Failure to thrive in infancy, Self-injurious behavior, Anxiety, Enuresis, Obesit... OMIM:613670
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Hepatic steatosis, Renal hypoplasia, Decreased liver function... OMIM:614922
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Cholangitis, Colitis, Neutropenia,... OMIM:209920
Rauch-Steindl Syndrome
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Prominent crus of helix, Anxi... OMIM:619695
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Small placenta, Cleft... ORPHA:397590
Lysosomal Acid Lipase Deficiency
Hepatic failure, Anemia, Death in infancy, Hypersplenism, Thrombocytopenia, Leukopenia, Periporta... OMIM:278000
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormality of the pancreas, Intrauterine growth retardation, ... ORPHA:2315
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Broad columella, Gastroesophageal reflux, Hyperactivity, Unsteady gait, Tics, Sho... OMIM:617865
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Periportal fibrosis,... ORPHA:64743
Chronic Hiccup
Abnormality of the diaphragm, Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Orofaciodigital Syndrome Xvii
Decreased body weight, Micropenis, Renal hypoplasia, High, narrow palate, Short stature, Prominen... OMIM:617926
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Broad nasal tip, Long nose, Cryptorchidism, Anemia, Lymphopenia, Dysme... OMIM:616541
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Proteinuria, Anemia, Recurrent urinary tract infections, Hyperechogenic kid... OMIM:619487
Adams-Oliver Syndrome 6
Esophageal varix, Renal hypoplasia, Hepatic fibrosis, Portal hypertension OMIM:616589
Autosomal Agammaglobulinemia
High palate, Neutropenia, Failure to thrive, Hepatitis, Malabsorption, Dehydration ORPHA:33110
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe postnatal growth retardation, Small for gestational age, ... ORPHA:73272
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Bradykinesia, Increased mitochondrial number, Protein-losing enteropathy, Babinsk... OMIM:619063
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Villous atrophy, Dehydration, Abnormality of small i... ORPHA:2290
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Lessel-Kubisch Syndrome
Renal hypoplasia, Short stature, Narrow nasal bridge, Renal insufficiency OMIM:618681
Immunodeficiency 87 And Autoimmunity
Premature rupture of membranes, Hepatic failure, Cholestasis, Autoimmune hemolytic anemia, Villou... OMIM:619573
Fraxe Intellectual Disability
Intrauterine growth retardation, Hyperactivity, Aggressive behavior, Recurrent hand flapping, Sho... ORPHA:100973
Burn-Mckeown Syndrome
Bifid uvula, Underdeveloped nasal alae, Bilateral choanal atresia/stenosis, Renal hypoplasia, Cho... OMIM:608572
Meckel Syndrome 12
Renal agenesis, Bifid uvula, Ureteral hypoplasia, Intrauterine growth retardation, Anteverted nar... OMIM:616258
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Hypertonia, Anteverted nares, Small for gestational age, Joint co... ORPHA:352490
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Dehydration, Edema, Weight loss ORPHA:103910
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Abnormal lateral ventricle morphology ORPHA:324422
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Fasciculations, Hepatomegaly, Short stature, Myopathy, Elevated hepatic transa... OMIM:610717
Degcags Syndrome
Pancytopenia, Chordee, Cholestasis, Cryptorchidism, Iron deficiency anemia, Anemia, Recurrent uri... OMIM:619488
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Propionic Acidemia
Pancytopenia, Limb hypertonia, Hepatomegaly, Lethargy, Neutropenia, Anemia, Increased level of hi... OMIM:606054
Central Diabetes Insipidus
Anxiety, Nocturia, Dehydration, Lethargy, Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Gastroesophageal reflux, Inability to walk, Decreased liver function, Ataxia, ... ORPHA:70472
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Intrauterine growth retardation, Periportal fibrosis, Renal hypoplasia, I... OMIM:269860
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Foot dorsiflexor weakness, Gait disturbance, Elevated hepatic transaminase, Di... OMIM:618400
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Gastrointestinal dysmotility, Hydronephrosis, Cryptorchidism, Aggressi... OMIM:270400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Abnormality of the gastrointestinal tract, Abnormality of the extra... ORPHA:298
Mungan Syndrome
Megaduodenum, Renal hypoplasia, Hypoperistalsis, Intestinal pseudo-obstruction, Barrett esophagus... OMIM:611376
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration, Intrauterine growth retardation OMIM:601410
Childhood Disintegrative Disorder
Progressive language deterioration, Anxiety, Dementia, Motor deterioration, Mental deterioration,... ORPHA:168782
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, High palate, Facial hypotonia, Bulbous nose, Motor stereotypy, Sp... ORPHA:280763
Ureteral hypoplasia, Bifid uvula, Underdeveloped nasal alae, Hydronephrosis, Villous atrophy, Oli... ORPHA:79328
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Decreased proportion of CD4+... OMIM:606367
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive, Hypertonic dehydration, Malabsorption OMIM:606824
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Gastroesophageal reflux, Growth delay, Short stature, Camptodact... ORPHA:1495
Intestinal perforation, Rhabdomyolysis, Leukocytosis, Hepatic failure, Hemolytic-uremic syndrome,... ORPHA:810
Gaucher Disease, Perinatal Lethal
Hepatic failure, Opisthotonus, Apathy, Anemia, Dysphagia, Arthrogryposis multiplex congenita, Asc... OMIM:608013
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cholestasis, Portal fibrosis, Renal tubular acidosis, Skeletal muscle atrophy, Myoglobinuria, Inc... ORPHA:370
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Schistocytosis, Leukocytosis, Colonic stenosis, Acute kidney injury, Anur... ORPHA:90038
Stromme Syndrome
Accessory spleen, Hydronephrosis, Intestinal malrotation, Wide nasal bridge, Jejunal atresia, Bil... OMIM:243605
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly, Cleft palate, High palate OMIM:246560
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Dehydration, Jaundice, Giant cell hepatitis, Failure to... OMIM:208085
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Citrullinemia Type Ii
Cerebral edema, Hepatic steatosis, Hyperactivity, Enuresis, Hepatomegaly, Aggressive behavior, Le... ORPHA:247585
Foxg1 Syndrome
Decreased body weight, Choreoathetosis, Severe postnatal growth retardation, Motor stereotypy, St... ORPHA:561854
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Failure to thrive in infancy, Decrease... OMIM:619510
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Autoimmune thrombocytopenia, Anal atresia, Urethral obstruction, Renal dysplasi... OMIM:601389
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Aminoaciduria, Short stature, Malabsorption, Dehydration ORPHA:634
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Small for gestational ag... ORPHA:567983
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Bulbous nose, Cryptorchidism, Hydronephrosis, Renal hypoplasia, Narrow nose, Wide nas... OMIM:618454
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Hepatic steatosis, Gastroesophageal reflux, Short stature, Failure to thrive, Elevated hepatic tr... ORPHA:300536
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Verheij Syndrome
Renal agenesis, Renal cyst, Renal hypoplasia, Wide nasal bridge, Growth delay, Short stature, Sho... OMIM:615583
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Polyhydramnios, Duodenal stenosis, H... ORPHA:2547
Cerebrofacioarticular Syndrome
Anal stenosis, Bilateral choanal atresia/stenosis, Renal hypoplasia, Self-injurious behavior, Wid... ORPHA:314679
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Proximal muscle weakness in lower limbs, Splenomegaly,... ORPHA:905
Pallister-Hall Syndrome
Cryptorchidism, Hydronephrosis, Panhypopituitarism, Renal dysplasia, Decreased response to growth... OMIM:146510
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Cornelia De Lange Syndrome 1
Proteinuria, Cryptorchidism, High, narrow palate, Thrombocytopenia, Cleft palate, Abnormal renal ... OMIM:122470
Chylomicron Retention Disease
Fat malabsorption, Hepatic steatosis, Increased hepatocellular lipid droplets, EMG: myopathic abn... ORPHA:71
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Anemia, Portal fibrosis, Renal tubular acidosis, Skeletal muscle atrophy, Myoglobinu... ORPHA:264580
Intellectual Developmental Disorder, X-Linked 98
Long nose, Underdeveloped nasal alae, Aggressive behavior, Recurrent hand flapping, Short nose, S... OMIM:300912
Legg-Calvé-Perthes Disease
Short stature, Cartilage destruction, Skeletal muscle atrophy ORPHA:2380
Christianson Syndrome
Motor stereotypy, Gastroesophageal reflux, Abnormality of the nose, Conspicuously happy dispositi... ORPHA:85278
Mental Retardation, X-Linked 91
High palate, Obesity, Short nose OMIM:300577
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Combined Malonic And Methylmalonic Acidemia
Methylmalonic aciduria, Failure to thrive, Dicarboxylic aciduria, Elevated hepatic transaminase, ... ORPHA:289504
Intellectual Developmental Disorder, X-Linked 104
High palate, Hyperactivity, Wide nasal bridge, Ataxia, Aggressive behavior, Spasticity, Bifid nas... OMIM:300983
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Rhizomelia, Renal hypoplasia, Supernumerary nipple, Glomerulonephritis, Wide nasal b... OMIM:614376
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Intrauterine grow... OMIM:619048
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Intrauterine growth retardation, Cholesta... ORPHA:541423
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Renal cyst, Renal hypoplasia, Hydrops fetalis, Short uvula, Polycystic kidney dyspla... OMIM:614091
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Growth delay, Depressed nasal bridge, Anteverted nares, Short nose OMIM:614069
Eosinophilic Gastroenteritis
Eosinophilia, Hematochezia, Abnormality of the gastrointestinal tract, Leukocytosis, Ascites, Ane... ORPHA:2070
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive, Methylmalonic aciduria OMIM:614265
Lysosomal Acid Lipase Deficiency
Hepatic failure, Fatal liver failure in infancy, Anemia, Hypernatriuria, Ascites, Hypersplenism, ... ORPHA:275761
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Decreased body weight, Ascites, Chro... ORPHA:1667
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Flexion contracture, Leukocytosis, Intrauterine growth retardation, Micropenis... OMIM:619321
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, Lethargy, Failure... OMIM:251000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Renal hypoplasia, Chronic kidney disease, Short stature, Depressed nasal bridge OMIM:617661
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Short stature, Failure to thrive, Asplenia, Ascites, Ankyloglossia OMIM:602361
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Lethargy, Failure to thrive, Dehydra... OMIM:143880
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Intrauterine growth retardation, Cholestasis, ... OMIM:617156
Oculoskeletodental Syndrome
Renal agenesis, Broad columella, Small for gestational age, Hypercalciuria, Cryptorchidism, Splen... OMIM:618440
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Failure to thrive, Edema, Recurrent bronchiolitis OMIM:616069
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Broad nasal tip, Flexion contracture, Stereotypical hand wringing, Failure to thrive, Irritabilit... ORPHA:500545
Multiple Intestinal Atresia
Polyhydramnios, Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Gastroesophageal reflux, Ketonuria, Failure to thrive, Spasticity, Dehydr... OMIM:251120
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Duodenitis, Villous atrophy OMIM:614328
Non-Distal Trisomy 10Q
High palate, Cryptorchidism, Convex nasal ridge, Short stature, Depressed nasal bridge, Abnormali... ORPHA:1695
Abnormality of the liver, Ataxia, Jaundice, Macroglossia, Failure to thrive, Protein-losing enter... ORPHA:79320
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:613092
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Polyhydramnios, Anteverted nares, Short nose ORPHA:1450
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Aggressive behavior, Medullary nephrocalcinosis, Decreased response to growth hor... ORPHA:363528
Distal Trisomy 6P
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia, Short stature, Prominent nasal... ORPHA:1745
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, 3-Methylglutaric aciduria, Leukopenia, Leukocytosis, Thrombocytosis, Lipid ac... ORPHA:20
Mosaic Trisomy 9
High palate, Horseshoe kidney, Intrauterine growth retardation, Bulbous nose, Cryptorchidism, Hyd... ORPHA:99776
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Short stature, Hyperechogenic kidneys, Attention deficit hyperactivity disorder OMIM:617914
Distal Monosomy 10Q
Functional abnormality of the bladder, Aggressive behavior, Clonus, Scapular winging, Facial dipl... ORPHA:96148
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia gliosis, Basal ganglia cysts, Agenesis of corpus callosum, Basal ... ORPHA:79243
Microphthalmia, Syndromic 9
Hypoplastic spleen, Horseshoe kidney, Intrauterine growth retardation, Renal malrotation, Cryptor... OMIM:601186
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth, Anal atresia OMIM:276950
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Hepatic steatosis, Abnormal pyramidal sign, Hyperactivity, Hepatomegaly, Ataxia, Ga... ORPHA:363400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Functional abnormality of the b... ORPHA:391487
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Dermotrichic Syndrome
Aganglionic megacolon, Anemia, Aminoaciduria, Depressed nasal bridge, Proportionate short stature... ORPHA:99688
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Hepa... ORPHA:369840
Placental Insufficiency
Abnormal placenta morphology, Intrauterine growth retardation, Small for gestational age, Eclamps... ORPHA:439167
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Cryptorchidism, Anorectal anomaly, Polycystic kidney dysplasia, Spin... ORPHA:567
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatic failure, Micropenis, Hydronephrosis, Cryptorchidism, Splenomegaly, Hepatomeg... OMIM:235255
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Depressed nasal ridge, Cryptorchidism, Renal hypoplasia, Obesity, Antev... ORPHA:464288
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Proteinuria, Cryptorchidism, Renal hypoplasia, Microglossia, Short stature, Prominen... ORPHA:1307
Intellectual Developmental Disorder, X-Linked 30
High palate, Anxiety, Hyperactivity, Aggressive behavior, Short stature, Prominent nasal bridge, ... OMIM:300558
Khan-Khan-Katsanis Syndrome
Flexion contracture, Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia, Short sta... OMIM:618460
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements, Inability to walk, ... ORPHA:3095
Unilateral renal agenesis, Branchial cyst, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Cholestasis, Ragged-red muscle fibers, Bradykinesia, Hepatomegaly, Failure ... OMIM:614924
Joubert Syndrome 22
Renal hypoplasia, Oculomotor apraxia, Intrauterine growth retardation OMIM:615665
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Renal hypoplasia, Hepatomegaly, Ketonuria, Oligohydramnios OMIM:619053
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Splenomegaly, Hepatomegaly, Death in childhood, Intrahepatic cholestasis, Shor... OMIM:601847
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic tr... OMIM:301045
Clark-Baraitser Syndrome
High palate, Hyperactivity, Obesity, Aggressive behavior, Depressed nasal bridge, Short nose OMIM:617752
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Intestinal malrotation, Spastic diplegia, Pyloric stenosis, Intestinal pseudo-obs... OMIM:300048
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature, Elevated hepatic transaminase, Hepa... OMIM:614480
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Intrauterine growth retardation, Depre... OMIM:608022
Familial Renal Glucosuria
Glycosuria, Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary t... ORPHA:69076
Duane-Radial Ray Syndrome
Renal agenesis, Small thenar eminence, Horseshoe kidney, Upper limb muscle hypoplasia, Anal steno... OMIM:607323
Fanconi Anemia, Complementation Group I
Decreased body weight, Horseshoe kidney, Bone marrow hypocellularity, Intrauterine growth retarda... OMIM:609053
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Motor stereotypy, Micropenis, Anxiety, Decreased testicular size, Overweight, Decrea... ORPHA:457240
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Cryptorchidism, Renal hypoplasia, Wide nasal bridge, Hypoplasia of penis, Renal dys... ORPHA:85321
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short stature, Anteverted nares, Hypospadias, Short nose ORPHA:1355
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Micropenis, Obesity, Multicystic kidne... OMIM:300209
Beta-Ketothiolase Deficiency
Extrapyramidal dyskinesia, Leukocytosis, Thrombocytosis, Hepatomegaly, Ataxia, Ketonuria, Apathy,... ORPHA:134
Elevated circulating growth hormone concentration, Ascites, Primary hyperparathyroidism, Neoplasm... ORPHA:97282
Chung-Jansen Syndrome
High palate, Cryptorchidism, Anxiety, Obesity, Aggressive behavior, Anteverted nares, Short nose,... OMIM:617991
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Narrow nasal bridge, Failure to thrive, Irritability, Short nose, Hypertonia OMIM:618379
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Hepatomegaly, Ataxia, Failure to thrive, Dehydration, Myoclonus OMIM:560000
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Depressed nasal ridge, Median cleft lip and palate, Anteverted n... ORPHA:1832
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic aciduria, Intrauterine growth retardation, Hemolytic-uremic syndrome, Megaloblastic... ORPHA:79282
Bainbridge-Ropers Syndrome
Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Recurrent hand flapping, Death in inf... OMIM:615485
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Methylmalonic aciduria, Hepatomegaly, Lethargy, Neutropenia, Anemia, Ketonuria, Fai... OMIM:251100
Smith-Magenis Syndrome
Abnormality of the ureter, Anteverted nares, Renal hypoplasia/aplasia, Motor stereotypy, Failure ... ORPHA:819
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Gastroesophageal reflux, Exercise-induced rhabdomyolysis,... OMIM:201475
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Intrauterine growth retardation, Nor... OMIM:610198
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Cholestasis, Bile duct proliferation, Intes... OMIM:208540
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Abnormality of the gastrointestinal tract, Facial hypotoni... ORPHA:2131
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Generalized limb muscle atrophy, Anemia, Myopathy, Delayed puberty, Short nose ORPHA:2598
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Failure to thrive OMIM:610370
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Cryptorchidism, Hydronephrosis, Rectal prolapse, Thyroid lymphangiec... OMIM:235510
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, High palate, Broad nasal tip, Self-biting, Motor stereotypy, Cryptorch... ORPHA:3306
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Anteverted nares, Flexion contracture, Bulbous nose, Hyperactivity, Growth delay, Ag... OMIM:616809
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Polycystic kidney dysplasi... ORPHA:731
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepatomegaly, Failure... ORPHA:79319
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Growth delay, Failure to thrive,... OMIM:602722
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Lacticaciduria, Elevated circulating alanine aminotransferase concentration, E... OMIM:619386
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Intrauterine growth retardation, Posterior pituitary hypop... ORPHA:75389
Oculocerebrorenal Syndrome Of Lowe
Proteinuria, Motor stereotypy, Cryptorchidism, Anemia, Clonus, Death in infancy, Proximal renal t... ORPHA:534
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Severe postnatal growth retardation, Jaundice, Macroglossia, Short stature, Prolonged neonatal ja... OMIM:613038
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Diamond-Blackfan Anemia 1
High palate, Intrauterine growth retardation, Congenital hypoplastic anemia, Colon cancer, Thromb... OMIM:105650
Ulnar-Mammary Syndrome
Ectopic anus, Cryptorchidism, Renal hypoplasia, Obesity, Hypoplasia of penis, Anal atresia, Hypop... ORPHA:3138
Acquired Partial Lipodystrophy
Hepatic steatosis, Proteinuria, Glomerulopathy, Myopathy, Microscopic hematuria, Lymphocytosis ORPHA:79087
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Wide nasal bridge, Hepatomegaly, Hypoplasia of peni... ORPHA:2849
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Gastroesophageal reflux, Wide nasal bridge, Prominent nasal bridge OMIM:616977
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Renal cell carcinoma, Abnormality of the ga... ORPHA:2869
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
X-Linked Non-Syndromic Intellectual Disability
Broad nasal tip, Small for gestational age, Facial palsy, Obesity, Meckel diverticulum, Depressed... ORPHA:777
Miller-Dieker Syndrome
Growth delay, Ataxia, Polyhydramnios, Nephropathy, Anteverted nares, Short nose ORPHA:531
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatosplenomegaly, Hypercalciuria, ... OMIM:219700
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Dicarboxylic aciduria ORPHA:79159
Proprotein Convertase 1/3 Deficiency
Obesity, Malabsorption, Villous atrophy OMIM:600955
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Hyperactivity, Convex nasal ridge, Preeclampsia, Narrow pala... OMIM:613684
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhage, Ascites, Anxiety... ORPHA:2137
Cystinosis, Nephropathic
Glycosuria, Exocrine pancreatic insufficiency, Failure to thrive in infancy, Proteinuria, Polyuri... OMIM:219800
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Intrauterine growth retardation, Cryptorchidism, Self-injurious behavior, Hype... ORPHA:254346
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
High palate, Hydronephrosis, Renal hypoplasia, Inability to walk, Gastroesophageal reflux, Aminoa... OMIM:617913
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Decreased body weight, Hyperactivity, Wide nasal bridge, Aggressive behavior, Short ... OMIM:618342
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Abnormal pyramidal sign, Spastic tetraplegia, Skeletal muscle atrophy, Cryptorchidism, Gastroesop... OMIM:615419
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... OMIM:251880
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Broad nasal tip, Hepatic failure, Hepatosplenomegaly, Micropenis, Hydronephrosis, Cr... ORPHA:1655
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Hypoplasia of the thymus, D... OMIM:243150
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Motor stereotypy, Cryptorchidism, Hydronephrosis, Posterior pituitary ... ORPHA:464311
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Speech apraxia, Short stature, Short nose, Attention deficit hyperacti... OMIM:245570
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Convex nasal ridge, Abnormality of the upper urinary tract, Shor... ORPHA:2145
Williams-Beuren Syndrome
Broad nasal tip, Failure to thrive in infancy, Colonic diverticula, Rectal prolapse, Recurrent ur... OMIM:194050
Fatty Acyl-Coa Reductase 1 Deficiency
Spastic tetraparesis, Inability to walk, Growth delay, Short stature, Depressed nasal bridge, Sho... ORPHA:438178
Alagille Syndrome 2
Long nose, Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Cholestasis, Renal hypopla... OMIM:610205
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Renal hypoplasia, Self-injurious behavior, Joint contracture of the 5th fi... OMIM:618914
3C Syndrome
Ectopic anus, Hydronephrosis, Intestinal malrotation, Gastroesophageal reflux, Wide nasal bridge,... ORPHA:7
Renal Dysplasia-Limb Defects Syndrome
High palate, Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Convex nasal ridg... OMIM:266910
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Methylmalonic aciduria, Hepatomegaly, Lethargy, Neutropenia, Anemia, Ketonuria, Fai... OMIM:251110
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Cryptorchidism, Intestinal malrotation, Wide nasal bridge, Prominent nasal bridge... ORPHA:401935
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Intrauterine growth retardation, Convex nasal ridge, Growth ... ORPHA:2409
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Intrahepatic cholestasis with episodic jaundice, Splenomegaly,... OMIM:211600
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Dehydration, Thrombocytopenia, H... OMIM:243500
Pierpont Syndrome
Broad nasal tip, Decreased body weight, Micropenis, Cryptorchidism, Short stature, Failure to thr... OMIM:602342
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Nephrotic syndrome, Flexion contracture, Proteinuria, Bone marrow hy... OMIM:617303
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea OMIM:613291
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Depressed nasal bridge, Gastroesophageal reflux, Hyperactivity OMIM:300434
Deeah Syndrome
Exocrine pancreatic insufficiency, Cryptorchidism, Panhypopituitarism, Self-mutilation, Dysphagia... OMIM:619004
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Bulbous nose, Mood swings, Micropenis, Cryptorchidism, Hyperactivity, Decreased testicular size, ... OMIM:300354
Alazami-Yuan Syndrome
High palate, Underdeveloped nasal alae, Cryptorchidism, Hyperactivity, Short stature, Prominent n... OMIM:617126
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Long nose, Intrauterine growth retardation, Cryptorchidism, Intestinal malrotation, ... OMIM:617602
Abnormality of the gastrointestinal tract, Nephrotic syndrome, Abnormality of the kidney, Decreas... ORPHA:79327
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Motor stereotypy, Cryptorchidism, Hydronephrosis, Oligohydramnios, Int... ORPHA:464306
Atresia Of Small Intestine
Intrauterine growth retardation, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, ... ORPHA:1201
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Short stature, Elevate... OMIM:619013
Cockayne Syndrome Type 3
Unilateral renal agenesis, Hydroureter, Urinary retention, Flexion contracture, Skeletal muscle a... ORPHA:90324
Cockayne Syndrome
Unilateral renal agenesis, Action tremor, Proteinuria, Severe short stature, Cryptorchidism, Neur... ORPHA:191
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Microcephaly, Dandy-Walker malformation, Spina bifida occulta, Dilat... OMIM:618736
Intellectual Developmental Disorder, Autosomal Recessive 61
High palate, Bulbous nose, Hyperactivity, Aggressive behavior, Spasticity, Decreased muscle mass,... OMIM:617773
Microform Holoprosencephaly
Renal agenesis, Maternal diabetes, Intrauterine growth retardation, Panhypopituitarism, Midnasal ... ORPHA:280200
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Anteverted nares, Bifid ureter, Horses... OMIM:617641
2Q37 Microdeletion Syndrome
Broad columella, Underdeveloped nasal alae, Motor stereotypy, Supernumerary nipple, Obesity, Cong... ORPHA:1001
48,Xxyy Syndrome
Motor stereotypy, Cryptorchidism, Azoospermia, Gastroesophageal reflux, Obesity, Decreased testic... ORPHA:10
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Myopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Generalized amyotrophy, Increased variability in muscle fiber diameter, EMG: m... ORPHA:52430
16P12.1P12.3 Triplication Syndrome
Nail-biting, Intrauterine growth retardation, Bulbous nose, Skin-picking, Anxiety, Hyperactivity,... ORPHA:485405
Glycine Encephalopathy
Hyperglycinuria, Hyperactivity, Aggressive behavior, Lethargy, Irritability, Death in infancy, My... OMIM:605899
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Microcephaly, Partial agenesis of the corpus ca... OMIM:619517
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Decreased fetal movement, Hepatomegaly, Polycystic kidney dysplasia, Depresse... OMIM:608776
Renal agenesis, Bifid uvula, Intrauterine growth retardation, Severe short stature, Intestinal ma... ORPHA:35107
Van Maldergem Syndrome 1
High palate, Renal hypoplasia, Wide nasal bridge, Growth delay, Anal atresia, Anteriorly placed a... OMIM:601390
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Anxiety, Aggressive behavior, Choanal atresia, Depressed nasal bridge, Celiac disea... ORPHA:284169
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Repetitive compulsive behavior, Recurrent upper respiratory tract infections, Fl... ORPHA:391372
Hepatic steatosis, Hepatosplenomegaly, Muscular dystrophy, Ataxia, High, narrow palate, Knee flex... ORPHA:79322
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hydronephrosis, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, Renal dysplasia, D... OMIM:608836
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Rhizomelia, Renal hypoplasia, Lobulated tongue, Cryptorchidism, Anal atresia, Promine... OMIM:616300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Intrauterine growth retardation, Small for gestational age, Micropenis, Hydr... OMIM:616897
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
High palate, Decreased body weight, Intrauterine growth retardation, Underdeveloped nasal alae, M... OMIM:619005
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Achalasia, Intrauterine growth retardation, Limb-girdle muscular dystrophy, In... OMIM:615356
22Q11.2 Duplication Syndrome
Depressed nasal ridge, Motor stereotypy, Hydronephrosis, Anxiety, Growth delay, Aplasia/Hypoplasi... ORPHA:1727
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Hepatic steatosis, Bone marrow hypocellularity, Opisthotonus, Abnor... ORPHA:445038
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Decreased urine output, Acute kidney injury, Achlorhydria, Miscarriage, Lethargy, Irritability, A... ORPHA:173
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Bifid uvula, Hepatic steatosis, Multiple joint contractures... ORPHA:2959
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Hepatic steatosis, Nephrotic syndrome, Flexion contracture, Proteinuria, Thrombocytos... OMIM:212065
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Happy demeanor, Intrauterine growth retardation, Bulbous nose, Failure to thrive ... OMIM:614104
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Growth delay, Esophageal varix, Anemia, Bone-marrow ... ORPHA:75233
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Bifid uvula, Wide nose, Intrauterine growth retardation, Anteverted nares, Small for... ORPHA:96184
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Severe postnatal growth retardation, Renal hypoplasia, Anteriorly displaced ure... OMIM:266810
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, Self-injurious be... ORPHA:208447
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Decreased fetal movement OMIM:615119
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Dysphagia, Short nose, Meckel diverticulum ORPHA:163961
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, P... OMIM:603471
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Colon cancer, Splenomegaly, Hepatomegaly, Hamartomatous polyposis, An... ORPHA:2930
Wiedemann-Steiner Syndrome
High palate, Low frustration tolerance, Intrauterine growth retardation, Motor stereotypy, Rhizom... ORPHA:319182
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Horseshoe kidney, Splenogo... OMIM:156810
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Anteverted nares, Polyhydramnios, Lymphedema, Edema, Protein-losing enteropathy, Hydrocele testis... OMIM:618154
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Metachromatic Leukodystrophy
Abnormal stomach morphology, Incoordination, Frequent falls, Decerebrate rigidity, Abnormal duode... ORPHA:512
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Anteverted nares, Portal hypertension, M... OMIM:216360
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Hepatic steatosis, Obesity OMIM:615703
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Growth delay, Uraciluria, Lethargy, Failure to thrive, Tetraplegia, Hypertonia OMIM:274270
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
High palate, Underdeveloped nasal alae, Self-injurious behavior, Gastroesophageal reflux, Anxiety... OMIM:300986
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Dehydration, Recurrent tonsillitis, Recurrent upper... ORPHA:171876
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Ascites, Hepatomegaly, Pancreatic fib... OMIM:200995
17P13.3 Microduplication Syndrome
Wide nose, High palate, Hypoplasia of penis, Short nose ORPHA:217385
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
High palate, Repetitive compulsive behavior, Decreased body weight, Facial hypotonia, Cryptorchid... OMIM:300260
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Rhizomelia, Cryptorchidism, Meckel diverticulum, Short stature, Polyhydramnios, Depressed nasal b... OMIM:602613
Congenital Disorder Of Glycosylation, Type Iie
Intrauterine growth retardation, Skeletal muscle atrophy, Hydronephrosis, Gastroesophageal reflux... OMIM:608779
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly, Simplified gyral pattern, Lissencephaly OMIM:615219
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Skeletal muscle atrophy, Decreased liver function, Elev... ORPHA:42
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Dysuria, Hydronephrosis, Multicystic kidney dysplasia, Anemia, Rec... ORPHA:79404
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Ataxia, Poor coordination, Recurrent hand flapping, Gait disturbance, Abnormal eatin... ORPHA:544254
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Dehydration, Decreased liver function, Myoglobinuria, Neonatal death OMIM:602199
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, High palate, Bulbous nose, Arthrogryposis-like hand anomaly, Cryptorchidism, Spas... ORPHA:369891
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Accessory spleen, Failure to thrive in infancy, Macronodular c... OMIM:619418
Andersen-Tawil Syndrome
High palate, Periodic hypokalemic paresis, Periodic paralysis, Renal tubular dysfunction, Periodi... ORPHA:37553
Okamoto Syndrome
Exaggerated median tongue furrow, Anteverted nares, Severe postnatal growth retardation, Unilater... ORPHA:2729
Intellectual Developmental Disorder, Autosomal Dominant 26
Anteverted nares, Intrauterine growth retardation, Small for gestational age, Hyperactivity, Wide... OMIM:615834
Martsolf Syndrome 2
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:619420
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Baller-Gerold Syndrome
High palate, Abnormality of the ureter, Intrauterine growth retardation, Failure to thrive in inf... ORPHA:1225
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Apr... ORPHA:99885
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Renal cyst, Stage 5 chronic kidney disease, Bifid uvula, Cholestasis, Ataxia, Hepato... OMIM:266920
Penile Agenesis
Fetal pyelectasis, Rectal fistula, Urethral atresia, male, Cystic renal dysplasia, Urethral fistu... ORPHA:49
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Repetitive compulsive behavior, Perineal hypospadias, Action tr... ORPHA:66634
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Inability to walk, Dysphagia, Short nose OMIM:617802
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology, Protein-losing enteropathy OMIM:613502
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Paralysis, Hypocitraturia, Hyper... ORPHA:18
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Cerebral palsy, Anemia, Irritability, Hemiplegi... ORPHA:69077
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia, Failure to t... OMIM:609425
Prolidase Deficiency
High palate, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatom... OMIM:170100
Williams Syndrome
Failure to thrive in infancy, Proteinuria, Cryptorchidism, Colonic diverticula, Macroglossia, Rec... ORPHA:904
Schimke Immuno-Osseous Dysplasia
Broad nasal tip, Proteinuria, Disproportionate short-trunk short stature, Anemia, Microscopic hem... ORPHA:1830
Kohlschutter-Tonz Syndrome-Like
Recurrent urinary tract infections, Dysphagia, Ventouse delivery, Oligohydramnios, Tremor, Caesar... OMIM:619229
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Depressed nasal bridge, Umb... ORPHA:2143
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Short stature, Short nose, Depressed nasal bridge, Malabsorption... OMIM:242860
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Long nose, Renal tubular acidosis, Hepatic failure, Multiple s... OMIM:118450
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Cryptorchidism, Self-injurious behavior, Hyperactivity, Growth delay, Hypoplasi... ORPHA:228402
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Achilles tendon contracture, Exocrine pancreatic insufficiency, Dysmetria, Contractures involving... ORPHA:456312
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Small for gestational age, Short stature, Short nose, Failure to thrive, Cl... OMIM:614261
Morm Syndrome
Hyperactivity ORPHA:75858
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Unhappy demeanor, Anxiety, Anhedonia, Impairment in pers... ORPHA:96369
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Underdeveloped nasal alae, Multicystic kidney dysplasia, Short stature, Congenital he... ORPHA:2031
Intellectual Developmental Disorder, Autosomal Recessive 73
Poor coordination, Decreased fetal movement, Recurrent hand flapping, Gait ataxia, Irritability OMIM:619717
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Growth delay, Congenital d... ORPHA:139466
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Leukocytosis, Acute kidney injury, Thrombocytosis, Proteinuria, Extrapyramidal mu... ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Emotional blunting, Aggressive behavior, Thickened nuchal skin ... ORPHA:275864
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Intrauterine growth retardation, Bulbous nose, Growth delay, Short stature, Camptoda... OMIM:613604
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Cholestasis, Slender build, Bile duct proliferation, Anemia, Recurrent urinary trac... OMIM:613658
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Cryptorchidism, Inability to walk, Growth delay, Depressed nasal bridge, Failure to ... OMIM:613457
Distal lower limb muscle weakness, Fat malabsorption, Dysmetria, Hepatic steatosis, Cirrhosis, At... ORPHA:14
Abnormal stomach morphology, Abnormal pyramidal sign, Abnormality of the gastrointestinal tract, ... ORPHA:801
Kinsship Syndrome
Spastic tetraparesis, Horseshoe kidney, Bulbous nose, Renal hypoplasia, Gastroesophageal reflux, ... OMIM:619297
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Bulbous nose, Self-injurious behavior, High, narrow palate, Recurrent hand flapping, Depressed na... OMIM:617268
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Distal arthrogryposis, Failure to thrive in infancy, Hydronephrosis, Renal hypoplasi... OMIM:618975
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Decreased response to growth hormone stimulation test, Depressed nasal bridge,... OMIM:616430
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Nuchal cord, High, narrow palate, Short uvula, Aggressive behavior, Clonus, Sho... OMIM:619475
1P36 Deletion Syndrome
Motor stereotypy, Cryptorchidism, Hydronephrosis, Dysphagia, Polyphagia, Obesity, Abnormality of ... ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dilati... OMIM:617751
Pallister-Hall-Like Syndrome
Micropenis, Occipital encephalocele, Anterior hypopituitarism, Microglossia, Renal dysplasia, Dep... OMIM:241800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior,... ORPHA:3077
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Loss of ability to walk, Anxiety, Emotional lab... ORPHA:79264
Miller-Dieker Lissencephaly Syndrome
Progressive spastic paraplegia, Intrauterine growth retardation, Joint contracture of the hand, C... OMIM:247200
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Aggressive behavior, Decreased testicular size, Cholelithiasis, High palate, Prog... OMIM:300534
Coffin-Siris Syndrome 1
Broad nasal tip, Cryptorchidism, Hydronephrosis, Aggressive behavior, Cleft palate, High palate, ... OMIM:135900
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Cryptorchidism, Hyperactivity, Mild short stature, Obesity, Depr... OMIM:614613
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Spastic gait, Dysmetria, Decreased body weight, Limb-girdle muscular dystrophy... ORPHA:96180
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Hepatomegaly, Ataxia, Spasticity, Myoclonus... OMIM:615924
Paternal Uniparental Disomy Of Chromosome 6
High palate, Abnormal placenta morphology, Intrauterine growth retardation, Cryptorchidism, Dehyd... ORPHA:96191
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasi... OMIM:607765
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, High palate, Renal cyst, Ureteral atresia, Cryptorchidism, Hydronephro... OMIM:614527
Heme Oxygenase 1 Deficiency
Elevated circulating alanine aminotransferase concentration, Hematuria, Proteinuria, Thrombocytos... OMIM:614034
High palate, Hepatic failure, Horseshoe kidney, Intrauterine growth retardation, Bulbous nose, Hy... ORPHA:46059
Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Joint swelling, Cartilage destruction, Malabsorption, Mediastinal lym... ORPHA:92
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Decreased liver function, Failure to thr... OMIM:614300
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Dilation of lateral ventricles, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Chronic neutropenia, Anemia, Pancreatitis, Ulcerative colitis, Stage 5 chronic kidne... ORPHA:79259
Disorder Of Bile Acid Synthesis
Fat malabsorption, Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary ... ORPHA:79168
14Q11.2 Microdeletion Syndrome
High palate, Depressed nasal bridge, Short nose ORPHA:261120
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Horseshoe kidney, Maternal diabetes, Intrauterine grow... ORPHA:1708
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Kleefstra Syndrome
Renal cyst, Motor stereotypy, Micropenis, Hydronephrosis, Gastroesophageal reflux, Obesity, Crypt... ORPHA:261494
Robinow Syndrome, Autosomal Dominant 2
Micropenis, Cleft soft palate, Cryptorchidism, Short stature, Depressed nasal bridge, Umbilical h... OMIM:616331
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Anteverted nares, Micropenis, Hydronephrosis, Gastroesophageal reflux, Cryptorchi... OMIM:301040
Macrocephaly-Developmental Delay Syndrome
High palate, Hepatosplenomegaly, Motor stereotypy, Self-injurious behavior, Anxiety, Wide nasal b... ORPHA:397612
Trigonocephaly 1
Long penis, Meckel diverticulum OMIM:190440
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Hydronephrosis, Renal dysplasia, Bladder trabeculation, Cleft palate, Short ... OMIM:614080
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Gastrointestinal hemorrhage, Proteinuria, Renal interstitial amyloid depo... ORPHA:85450
Lipodystrophy, Congenital Generalized, Type 4