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Gene: Mid1 MGI:1100537

Gene Summary

Name:

midline 1

Synonyms:

Fxy, 61B3-R, DXHXS1141, Trim18

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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
enlarged kidney	Mid1^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal spleen morphology	Mid1^em1(IMPC)Mbp	HOM	Early adult	0.00
persistence of hyaloid vascular system	Mid1^em1(IMPC)Mbp	HEM	Early adult	3.70×10^-05
single kidney	Mid1^em1(IMPC)Mbp	HEM	Early adult	0.00
decreased total body fat amount	Mid1^em1(IMPC)Mbp	HET	Early adult	1.83×10^-05
increased heart weight	Mid1^em1(IMPC)Mbp	HET	Early adult	4.01×10^-06
increased lean body mass	Mid1^em1(IMPC)Mbp	HET	Early adult	3.26×10^-05
abnormal kidney morphology	Mid1^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal kidney morphology	Mid1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased prepulse inhibition	Mid1^em1(IMPC)Mbp	HET	Early adult	3.64×10^-05
small kidney	Mid1^em1(IMPC)Mbp	HET	Early adult	0.00
increased freezing behavior	Mid1^em1(IMPC)Mbp	HET	Early adult	3.86×10^-05
enlarged spleen	Mid1^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Human diseases caused by Mid1 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 Mid1 (2 diseases)
Human diseases predicted to be associated with Mid1 (593 diseases)

The table below shows human diseases associated to Mid1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Opitz Gbbb Syndrome		Agenesis of corpus callosum, Microcephaly	OMIM:300000
Opitz Gbbb Syndrome		Agenesis of corpus callosum, Abnormal corpus callosum morphology, Hypoplasia of the corpus callos...	ORPHA:2745

The table below shows human diseases predicted to be associated to Mid1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Cerebellar dysplasia	OMIM:615041
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Unilateral renal agenesis	OMIM:206750
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy...	ORPHA:1532
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent...	OMIM:605361
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Coloboma Of Macula With Type B Brachydactyly	Coloboma, Renal agenesis	OMIM:120400
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity, Ataxia	OMIM:613402
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Septopreoptic Holoprosencephaly	Short attention span, Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagi...	ORPHA:280195
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o...	OMIM:604213
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	OMIM:616230
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Dysme...	OMIM:618090
Coloboma Of Macula-Brachydactyly Type B Syndrome	Renal agenesis, Chorioretinal coloboma	ORPHA:1471
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Cerebellar hypoplasia	OMIM:617562
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cer...	ORPHA:248111
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Joubert Syndrome 25	Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Postural tremor, Kinetic tremor, Olivopontocerebellar hypop...	ORPHA:98756
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Ataxia, Head titubation, Abnormal brainstem morphology, Cerebellar cyst...	ORPHA:370022
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem, Cere...	OMIM:613155
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar v...	ORPHA:98755
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly	ORPHA:171703
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Hydrocephalus, Abnormal repetitive ...	OMIM:619470
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ...	ORPHA:101070
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar pedu...	OMIM:609583
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unstea...	ORPHA:228360
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia,...	OMIM:615993
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel...	OMIM:615181
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Adult Krabbe Disease	Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain mor...	ORPHA:206448
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullar...	OMIM:216360
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Joubert Syndrome 30	Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:300804
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia	OMIM:619111
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia	OMIM:617757
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis	OMIM:618142
47,Xyy Syndrome	Hyperactivity, Impulsivity, Hydrocephalus, Abnormal brainstem morphology, Attention deficit hyper...	ORPHA:8
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem...	OMIM:613153
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior	OMIM:271980
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Unilateral renal agenesis	ORPHA:1064
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney	OMIM:613680
Lissencephaly Due To Tuba1A Mutation	Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo...	ORPHA:171680
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly, Cognitive impairment, Aplasia/Hy...	ORPHA:588
Xq25 Microduplication Syndrome	Hyperactivity, Cerebellar hypoplasia	ORPHA:521258
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po...	ORPHA:300573
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot...	OMIM:611134
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem, Mola...	OMIM:610688
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:617127
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Optic atrophy, Proximal tubulopathy, Hyper...	OMIM:614576
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol...	ORPHA:220497
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Cerebellar atrophy, Hyperactivity, Ataxia, Impul...	ORPHA:35069
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Braddock Syndrome	Unilateral renal agenesis	ORPHA:52047
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis	ORPHA:3306
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, Abnormal brainstem morphology, Falls, Mental deterioration	ORPHA:2382
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Hogue-Janssen Syndrome 2	Unilateral renal agenesis	OMIM:616362
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Hydrocephalus...	OMIM:614424
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot...	OMIM:614175
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration	OMIM:615924
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At...	OMIM:618161
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis	OMIM:614815
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ata...	OMIM:610217
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity	OMIM:609924
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	OMIM:620010
Chromosome Xq25 Duplication Syndrome	Hyperactivity, Cerebellar hypoplasia	OMIM:300979
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Exaggerated startle response, Ataxia	OMIM:618598
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol...	ORPHA:220493
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Hypoplasia of the brainste...	OMIM:617751
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Joubert Syndrome 22	Molar tooth sign on MRI, Agenesis of cerebellar vermis	OMIM:615665
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Molar tooth sign on MRI	ORPHA:2318
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Stereotypical hand wringi...	ORPHA:163681
Emanuel Syndrome	Recurrent urinary tract infections, Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:609029
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve...	OMIM:601853
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Hydrocephalus, Hypopla...	OMIM:608091
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome...	OMIM:617303
Joubert Syndrome 15	Molar tooth sign on MRI, Ataxia, Exencephaly	OMIM:614464
Joubert Syndrome 3	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At...	OMIM:608629
Joubert Syndrome 1	Hyperactivity, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Agenesis of cerebellar ...	OMIM:213300
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-comp...	ORPHA:168491
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Schizophrenia 1	Partially duplicated kidney, Renal agenesis, Ectopic kidney	OMIM:181510
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Intellectual Developmental Disorder, X-Linked 30	Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Hydrocephalus, Agitation	OMIM:300558
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Dementia, Gait distur...	ORPHA:93256
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia	OMIM:619562
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic...	OMIM:608836
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Tremor, Chorea, Choreoathetosis, Difficulty walking, Dystonia, Cerebellar ...	OMIM:615673
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Emanuel Syndrome	Micropenis, Renal hypoplasia, Unilateral renal agenesis	ORPHA:96170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Micropenis, Unilateral renal agenesis	OMIM:619951
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior	ORPHA:369939
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Cerebellar...	OMIM:617302
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Anencephaly	OMIM:614120
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ata...	OMIM:103050
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Shashi-Pena Syndrome	Unilateral renal agenesis	OMIM:617190
Joubert Syndrome 7	Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI	OMIM:611560
Short Stature, Microcephaly, And Endocrine Dysfunction	Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney	OMIM:616541
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru...	OMIM:232200
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Hydrocephalus, Hypoplasia of the brainstem, Holopros...	OMIM:253800
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili...	ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Inferior cerebellar vermis hypoplasia, Recurrent hand flapping, Bruxism	OMIM:613192
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia	ORPHA:382
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebellar vermis hypoplasia, Exaggerated startle response, Hydrocephalus, Dandy-W...	OMIM:617281
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Takenouchi-Kosaki Syndrome	Optic atrophy, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Ataxia, Confusion, Myelopathy, Inability to walk, Dysmetria,...	ORPHA:139396
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec...	OMIM:232220
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum	OMIM:614833
Slc35A2-Cdg	Cerebellar atrophy, Abnormal midbrain morphology, Inability to walk, Atrophy/Degeneration affecti...	ORPHA:356961
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cholesteryl Ester Storage Disease	Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis	ORPHA:75234
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Attention...	OMIM:620242
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis	OMIM:616719
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel...	OMIM:610188
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Tay-Sachs Disease	Cerebellar atrophy, Short attention span, Exaggerated startle response, Tremor, Inability to walk...	ORPHA:845
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Microp...	ORPHA:464311
Cockayne Syndrome Type 3	Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Retinal atrophy, Unilate...	ORPHA:90324
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Tremor, Paucity of ...	ORPHA:79139
Joubert Syndrome 20	Molar tooth sign on MRI, Inability to walk, Self-mutilation, Aggressive behavior	OMIM:614970
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Abnormal pons morphology, Aggressive behavior	ORPHA:85327
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog...	ORPHA:309246
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Inferior cerebel...	OMIM:620327
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G...	OMIM:300486
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, A...	OMIM:620135
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit...	OMIM:620141
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI	ORPHA:166024
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis	ORPHA:2155
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop...	ORPHA:505248
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Joubert Syndrome 37	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:619185
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney,...	ORPHA:464306
Fg Syndrome 3	Chiari type I malformation, Hyperactivity	OMIM:300406
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Confus...	ORPHA:68
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Unilateral renal agenesis	OMIM:101800
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal agenesis	ORPHA:221139
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Microphallus, ...	ORPHA:468631
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly	ORPHA:464329
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Joubert Syndrome 31	Molar tooth sign on MRI, Truncal ataxia	OMIM:617761
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Joubert Syndrome 27	Molar tooth sign on MRI, Ataxia, Gait ataxia	OMIM:617120
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Cockayne Syndrome	Abnormality of retinal pigmentation, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar...	ORPHA:191
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h...	OMIM:619306
H Syndrome	Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Fanconi Anemia, Complementation Group L	Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Enuresis, Abnormal optic disc morphology, Hydronephrosis	ORPHA:96121
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Joubert Syndrome 9	Molar tooth sign on MRI, Encephalocele	OMIM:612285
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Agenesis of ...	OMIM:243910
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot...	OMIM:616546
Proboscis Lateralis	Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral agenesis, Duplic...	ORPHA:141099
Joubert Syndrome 28	Molar tooth sign on MRI, Ataxia	OMIM:617121
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Enlarged cerebellum, Ataxia	OMIM:620047
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr...	OMIM:620305
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Retinal coloboma, Nephroblastoma, Bifid ureter, ...	ORPHA:500095
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Iris coloboma	OMIM:181270
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	ORPHA:2673
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis	OMIM:620024
Coach Syndrome 3	Molar tooth sign on MRI, Ataxia	OMIM:619113
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis	OMIM:619194
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H...	ORPHA:79328
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Hypoplasia ...	OMIM:615574
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena...	OMIM:270400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Unilateral renal agenesis	ORPHA:457284
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel...	ORPHA:397715
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enl...	ORPHA:79259
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv...	ORPHA:95699
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retinal detachment, Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, D...	ORPHA:268261
Bnar Syndrome	Renal agenesis	ORPHA:217266
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Stage 5 chronic kidney dis...	ORPHA:731
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele, Ataxia	OMIM:612291
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis	OMIM:213980
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis	OMIM:618419
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Molar tooth sign on MRI	ORPHA:2754
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp...	ORPHA:444072
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Increased ur...	ORPHA:100924
Zttk Syndrome	Optic atrophy, Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Leopard Syndrome 1	Micropenis, Hypospadias, Unilateral renal agenesis	OMIM:151100
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia	OMIM:619476
Distal 22Q11.2 Microduplication Syndrome	Optic disc coloboma, Unilateral renal agenesis	ORPHA:261337
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Aggressive behavior	OMIM:616202
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Optic nerve hypoplasia, Bilateral renal hyp...	ORPHA:508488
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney	OMIM:306955
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Self-injurious behavio...	OMIM:619512
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Argininemia	Cerebellar atrophy, Hyperactivity, Spastic gait, Anorexia	OMIM:207800
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia, Cerebellar corti...	ORPHA:521426
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna	OMIM:615873
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis	OMIM:154400
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly	OMIM:300855
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Short attention span, Chorea, Exaggerated startle response	OMIM:617864
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia	ORPHA:438216
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Molar tooth sign on MRI, Encephalocele, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:616300
Gm2-Gangliosidosis, Ab Variant	Chorea, Dementia, Exaggerated startle response, Dystonia	OMIM:272750
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia	OMIM:277170
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy...	OMIM:609049
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Duplication Of The Pituitary Gland	Encephalocele, Self-mutilation, Abnormal midbrain morphology	ORPHA:314621
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Bilateral renal dysplasia, Unilateral renal agenesis, Optic atrophy, Hors...	ORPHA:500150
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Dysphagia	OMIM:618367
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Inability to walk, Ataxia	OMIM:617563
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Sandhoff Disease	Exaggerated startle response, Progressive psychomotor deterioration, Ataxia, Impaired temperature...	OMIM:268800
Joubert Syndrome 17	Molar tooth sign on MRI, Ataxia	OMIM:614615
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI	OMIM:607131
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis	OMIM:619479
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Dystonia, Ep...	ORPHA:1934
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Holoprosencephaly, ...	OMIM:615948
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Legius Syndrome	Short attention span, Hyperactivity, Dystonia, Chiari type I malformation, Attention deficit hype...	ORPHA:137605
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Micropenis, Ren...	ORPHA:672
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl...	OMIM:308205
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Hepatosplenomegaly, Urinary urgency, Micropenis, Pelvic kidney	OMIM:619503
Digeorge Syndrome	Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Hydronephrosis, Renal dysplasia	OMIM:188400
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Cardiac-Urogenital Syndrome	Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus	OMIM:618280
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Anencephaly, Chiari malformatio...	OMIM:249000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,...	OMIM:312870
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum	OMIM:618810
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Tremor, Phonic tics, Dysphagia, Choreoathetosis, Blepharospasm, ...	OMIM:234200
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro...	ORPHA:314679
Choreoacanthocytosis	Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib...	ORPHA:2388
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia	OMIM:616881
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Lumbar Syndrome	Renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Renal duplication	ORPHA:83628
Wilson Disease	Dystonia, Tremor, Hypoesthesia, Hand tremor, Face of the giant panda sign, Dysphagia, Dementia, L...	OMIM:277900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Abnorma...	ORPHA:353281
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Cognitive impairment, Dysphagia	OMIM:617527
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	D-2-hydroxyglutaric aciduria, Unilateral renal agenesis	ORPHA:99646
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym...	OMIM:618820
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Aggressive behavior, Impaired pain sensation, Self-injurious behavi...	ORPHA:293987
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ...	ORPHA:353277
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:151050
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Atelis Syndrome 2	Remnants of the hyaloid vascular system	OMIM:620185
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Orofaciodigital Syndrome Type 14	Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation	ORPHA:434179
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Microphthalmia, Syndromic 2	Remnants of the hyaloid vascular system, Retinal detachment, Hypospadias, Iris coloboma	OMIM:300166
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	ORPHA:466791
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Broad-based gait, Inability to walk, Dysphagia, Dystonia, Stereotyp...	ORPHA:438213
Opitz Gbbb Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:300000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Opitz Gbbb Syndrome	Agenesis of corpus callosum, Abnormal corpus callosum morphology, Hypoplasia of the corpus callos...	ORPHA:2745
Norrie Disease	Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy	ORPHA:649

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 Mid1

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 Mid1.

No publications found that use IMPC mice or data for Mid1.

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MGI Allele	Allele Type	Produced
Mid1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Mid1 MGI:1100537

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Mid1 mutations

Histopathology

IMPC related publications

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