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Gene: Phip MGI:1932404

Gene Summary

Name:

pleckstrin homology domain interacting protein

Synonyms:

4632404O06Rik, 2810004D21Rik, Wdr11, Ndrp

Order Alleles

IMPC Data Collections

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
abnormal cranium morphology	Phip^em1(IMPC)Tcp	HET	Early adult	2.42×10^-06
hydrocephaly	Phip^em1(IMPC)Tcp	HET	Early adult	0.00
increased circulating aspartate transaminase level	Phip^em1(IMPC)Tcp	HET	Early adult	1.15×10^-05
hyperactivity	Phip^em1(IMPC)Tcp	HET	Early adult	1.06×10^-05
preweaning lethality, complete penetrance	Phip^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal embryo size	Phip^em1(IMPC)Tcp	HOM	E15.5	0.00
small uterus	Phip^em1(IMPC)Tcp	HET	Early adult	0.00
increased leukocyte cell number	Phip^{em1(IMPC)Wtsi}	HET	Early adult	3.22×10^-05
enlarged urinary bladder	Phip^em1(IMPC)Tcp	HET	Early adult	0.00
decreased circulating chloride level	Phip^{em1(IMPC)Wtsi}	HET	Early adult	6.47×10^-06
decreased body length	Phip^{em1(IMPC)Wtsi}	HET	Early adult	3.03×10^-10

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

94 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Eye Morphology

Images Slit Lamp

9 Images

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Histopathology

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Phip 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 Phip (2 diseases)
Human diseases predicted to be associated with Phip (880 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Chung-Jansen Syndrome		Attention deficit hyperactivity disorder, Cryptorchidism, Impulsivity, Aggressive behavior	OMIM:617991
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome		Attention deficit hyperactivity disorder, Cryptorchidism, Impulsivity	ORPHA:589905

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

Disease	Matching phenotypes	Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge...	ORPHA:293964
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly, Cardiomyopathy	OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure	OMIM:261650
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Ventriculomegaly, Hydrocephalus, Motor stereotypy	OMIM:618709
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated...	OMIM:615158
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Glycogen Storage Disease Vi	Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased he...	OMIM:232700
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Myopathy	ORPHA:366
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Hepatomegaly	ORPHA:67046
Schizophrenia 15	Hyperactivity	OMIM:613950
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Hypoglycemia	OMIM:262400
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:214700
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration	OMIM:607091
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia	OMIM:240900
Beemer Lethal Malformation Syndrome	Hydrocephalus, Ambiguous genitalia	OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis	ORPHA:446
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Ventric...	OMIM:232400
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Distal lower limb muscle weakness, Fasting hypoglycemia, Pr...	ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab...	ORPHA:324575
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:613090
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentratio...	OMIM:619048
1Q21.1 Microduplication Syndrome	Attention deficit hyperactivity disorder, Cryptorchidism, Hypospadias, Hydrocephalus	ORPHA:250994
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia	OMIM:614492
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Hydrocephalus, Motor stereotypy, Aggressive behavior	OMIM:619470
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypo...	ORPHA:276580
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circulating pipecolic...	OMIM:266100
Propionic Acidemia	Hypoglycemia, Hepatomegaly, Cardiomyopathy	ORPHA:35
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr...	OMIM:300559
Hemochromatosis, Neonatal	Cirrhosis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepat...	OMIM:231100
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Endocardial Fibroelastosis	Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypo...	ORPHA:276575
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Splenomegaly...	OMIM:261750
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem...	ORPHA:276556
Distal 7Q11.23 Microduplication Syndrome	Attention deficit hyperactivity disorder, Frontal encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:261102
Hyperprolinemia, Type I	Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Hyperprolinemia,...	OMIM:239500
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Ab...	ORPHA:3032
Edinburgh Malformation Syndrome	Hydrocephalus, Neonatal hyperbilirubinemia	OMIM:129850
Diarrhea 13	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia	OMIM:620357
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus	OMIM:258320
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Hypoglycemia, Cardiomyopathy	ORPHA:67048
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Ketotic hypoglycemia, Cardiomyopathy, Myopathy	ORPHA:26792
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ...	ORPHA:276608
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom...	OMIM:618963
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly...	OMIM:613027
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Compulsive behaviors, Phonic tics, Ventriculomegaly, Aggressive behavior	OMIM:301107
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Hepatomegaly, Self-mutilation	OMIM:300884
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	OMIM:619386
Glycine Encephalopathy 1	Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior	OMIM:605899
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Atrial septal defect, Hyperinsulinemia, Hypoglycemia	OMIM:620211
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:602522
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Ketotic hypoglycemia, Dilated cardiomyopathy	ORPHA:79159
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Impaired gluconeogenesis, Reduced muscle carnitine level, Microvesicular hepatic st...	OMIM:212140
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Hepatomegaly	OMIM:614741
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Abnormal heart morphology	ORPHA:231147
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Hepatomegaly, Hepatic steatosis, Hepatic failure	OMIM:617872
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:261680
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp...	OMIM:262190
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, Elevated circulating...	OMIM:617950
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Diastasis recti, Hypoglycemia	ORPHA:231140
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Recurrent upper respiratory tract infections	OMIM:620137
Fried Syndrome	Hydrocephalus, Aggressive behavior	ORPHA:85335
Bartter Syndrome Type 4	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia	ORPHA:89938
Biemond Syndrome Type 2	Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Hepatic necrosis, F...	OMIM:231530
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Elevated circulating gamma-aminobutyric ac...	OMIM:271980
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopath...	ORPHA:156
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Infantile Liver Failure Syndrome 2	Jaundice, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic ...	OMIM:616483
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Atrial septal defect, Elevated circulating hepatic transaminase concent...	OMIM:615160
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus	OMIM:601076
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis, Hypoglycemia	OMIM:618120
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hepatic failure	ORPHA:664
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:241200
Glycogen Storage Disease Ixa1	Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypoglycem...	ORPHA:2394
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, H...	ORPHA:5
Combined Oxidative Phosphorylation Deficiency 10	Pleural effusion, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Hypoglycemia	OMIM:614702
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:300438
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Hypoglycemia, Flexion contracture of toe, Finger joint contracture	ORPHA:48431
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:618958
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Recurrent respiratory infections	ORPHA:364
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Self-mutilation, Polyphagia, Aggressive behavior	OMIM:616521
Phenylketonuria	Increased level of hippuric acid in urine, Hyperactivity, Elevated urinary gamma-glutamylphenylal...	OMIM:261600
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:618241
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Generalized amyotrophy, Hypoglycemia	OMIM:610006
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Attention deficit hyperactivity disorder, H...	OMIM:617914
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macroorchidism, Cardiomegaly	OMIM:300886
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Neonatal hypoglycemia, Decreased muscle mass	ORPHA:631
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hypoglycemia, Elevated ci...	OMIM:620454
Amed Syndrome, Digenic	Attention deficit hyperactivity disorder, Hypoplasia of the uterus	OMIM:619151
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Pleural effusion, Elevated circulating alanine aminotransferase concentratio...	OMIM:617049
Intellectual Developmental Disorder, X-Linked 30	Agitation, Hyperactivity, Hydrocephalus, Restlessness, Aggressive behavior	OMIM:300558
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Timothy Syndrome	Pneumonia, Bronchitis, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ven...	OMIM:601005
Hyperlysinemia, Type I	Increased CSF lysine concentration, Argininuria, Decreased CSF arginine concentration, Hyperactiv...	OMIM:238700
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Satoyoshi Syndrome	Mildly elevated creatine kinase, Hypoplasia of the uterus	OMIM:600705
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ven...	OMIM:212138
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated circulating alanine aminotransferase concentration, Neonatal death, Skeletal muscle atro...	OMIM:245400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hypokalemia, Hyperactivity, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, ...	OMIM:618314
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia, Elevated circulating hepatic transaminase concentration	ORPHA:289504
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:266150
47,Xyy Syndrome	Hypospadias, Azoospermia, Hyperactivity, Hydrocephalus, Oligozoospermia, Impulsivity, Varicocele,...	ORPHA:8
Diencephalic Syndrome	Hydrocephalus, Long penis	ORPHA:1672
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Mody	Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Glycosuria...	ORPHA:552
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Hyperglycemia, Skeletal muscle atrophy, Adip...	OMIM:246200
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Hypoglycemia, Neonatal death, Cardiomyopathy	OMIM:618839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypoglycemia, Neonatal death, Hypertrophic cardiomyopathy	OMIM:618835
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:228305
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis, Hypogl...	OMIM:611126
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Splenomegaly, Vent...	OMIM:610333
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp...	ORPHA:263455
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia	OMIM:248360
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Neoplasm of the lung, Recurrent hy...	ORPHA:2126
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
2,4-Dienoyl-Coa Reductase Deficiency	Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Increased CSF lysine conce...	OMIM:616034
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Porta...	ORPHA:264580
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Neonatal death, Pulmonary hypopl...	OMIM:231680
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Long penis, Decreased circulating...	OMIM:202010
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Nephrolithiasis, Attention deficit hyperactiv...	OMIM:619827
Long-Olsen-Distelmaier Syndrome	Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Secundum atrial septal...	OMIM:620609
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Nonketotic hypoglycemia, Exercise...	OMIM:201475
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Neonatal death, Elevat...	OMIM:620300
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Myelomeningocele, Hydronephrosis, Motor ste...	OMIM:620141
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Insulinoma	Hyperinsulinemia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia,...	ORPHA:97279
Fanconi-Bickel Syndrome	Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hyponatremia, Hypochloremia	ORPHA:90794
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Immunodeficiency 10	Amelogenesis imperfecta, Hepatomegaly, Recurrent pneumonia, Splenomegaly, Hypoglycemia, Myopathy	OMIM:612783
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:79240
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Neural Tube Defects, Susceptibility To	Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:182940
Acth Deficiency, Isolated	Jaundice, Cholestasis, Fasting hypoglycemia	OMIM:201400
Infantile Sialic Acid Storage Disease	Hepatomegaly, Hydrocephalus, Nephrotic syndrome, Splenomegaly, Conjugated hyperbilirubinemia, Car...	OMIM:269920
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism	OMIM:618577
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Elevated circulating hepatic transaminase concentration, Postpr...	ORPHA:2089
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:201450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Lef...	OMIM:613153
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Hydrocephalus, Hydronephrosis, Attention deficit hyperactivity disorde...	OMIM:609757
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Classic Galactosemia	Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Hypoglycemia, He...	ORPHA:79239
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Hepatomegaly, Cardiomegaly	ORPHA:858
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, Accessory spleen, Micr...	OMIM:619418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:613155
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia	ORPHA:2183
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra...	ORPHA:71212
Propionic Acidemia	Hepatomegaly, Pancreatitis, Limb hypertonia, Cardiomyopathy, Hypoglycemia	OMIM:606054
Galactokinase Deficiency	Hyperinsulinemia, Hypoglycemia, Hepatomegaly, Hepatosplenomegaly	ORPHA:79237
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypoglycemia, Joint contracture, Limb hypertonia	ORPHA:35708
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:26791
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures	ORPHA:199296
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Nemaline bodies, Umbilical hernia, Hypoglycemia, Elbow contracture	OMIM:620275
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:605911
Temple Syndrome	Hydrocephalus, Cryptorchidism, Precocious puberty, Polyphagia	ORPHA:254516
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Hypoglycemia	OMIM:617710
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, ...	ORPHA:79644
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly, Disinhibition	ORPHA:2770
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:608836
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration, Meningocele	ORPHA:588
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Obsessive-compulsive trait, Abnormal temper tantrums, Hydrocephalus, Dilated third ventricle, Imp...	ORPHA:500055
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Meckel Syndrome 12	Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia	OMIM:616258
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Hypoglycemia, Aspiration pneumonia	OMIM:618253
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon...	ORPHA:432
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Recu...	ORPHA:94086
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus, Calcium oxalate nephrolithiasis	OMIM:248000
Hypoplasminogenemia	Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malformation, Abnormality of the ...	ORPHA:722
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Cog8-Cdg	Hypoglycemia, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy	ORPHA:95428
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia	OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Cardiomyopathy, Splenomegaly	OMIM:619046
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Hypoglycemia, Facial hypotonia	OMIM:616355
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ...	ORPHA:101330
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas...	ORPHA:348
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Cryptorchidism, Hypogonadism	OMIM:601794
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Ectopic kidney, Hydrocephalus, Lateral ventricle dilatation, Ventriculomega...	OMIM:602200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Dorsocervical fat pad, Hypoglycemia, Diabetes mellitus	ORPHA:391408
B4Galt1-Cdg	Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase conc...	ORPHA:79332
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Immunodeficiency, Common Variable, 10	Recurrent pneumonia, Hypoglycemia, Recurrent sinusitis, Recurrent viral upper respiratory tract i...	OMIM:615577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:615181
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Hydrocephalus, Ventriculomegaly, Cryptorchidism, Horseshoe kidney	OMIM:218350
6P22 Microdeletion Syndrome	Hydrocephalus, Hydronephrosis	ORPHA:251046
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Hypoinsulinemia, Type II diabetes mellitus, Proximal muscle weakness in lower limbs	ORPHA:453533
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi...	OMIM:300908
Temple Syndrome	Hypertriglyceridemia, Hydrocephalus, Precocious puberty, Decreased testicular size, Cryptorchidis...	OMIM:616222
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypoglycemia, Hypertrophic cardiomyopathy	ORPHA:391428
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Hydrocephalus, Renal hypoplasia, Cryptorchidism, Micropenis	ORPHA:171839
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Diabetic Embryopathy	Ureteral duplication, Hydrocephalus, Hydronephrosis, Spinal dysraphism, Cryptorchidism, Micropeni...	ORPHA:1926
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Pancreatitis, Cardiomyopathy, Hepatomegaly	OMIM:251000
Smith-Kingsmore Syndrome	Hypoglycemia, Diastasis recti, Umbilical hernia	OMIM:616638
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalities, Hypertroph...	ORPHA:99901
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Hypoglycemia, Elevated circulating ...	OMIM:617093
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Secundum atrial s...	OMIM:609069
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Renal Cysts And Diabetes Syndrome	Hypospadias, Unilateral renal agenesis, Hyperuricemia, Bicornuate uterus, Nephrolithiasis, Renal ...	OMIM:137920
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:159
Insulin-Resistance Syndrome Type B	Pneumonia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Biliary cirrhos...	ORPHA:2298
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Hydrocephalus	ORPHA:99947
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cholestasis, R...	OMIM:609015
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Anencephaly	OMIM:614120
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome...	ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:615453
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent pneumonia, Recurrent hypoglycemia	OMIM:607398
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Neonatal hypoglycemia, Facial palsy	OMIM:606407
Laron Syndrome	Hypoglycemia	ORPHA:633
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis	OMIM:615862
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Cardiomyopathy, Cholestasis, Chronic hepatic failure, Skeletal myopathy...	ORPHA:746
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Hydrocephalus, Chordee, C...	OMIM:309801
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia	ORPHA:163961
Aica-Ribosiduria Due To Atic Deficiency	Hypoglycemia, Secundum atrial septal defect	OMIM:608688
Glycogen Storage Disease Ia	Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Fasting hypo...	OMIM:232200
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Car...	ORPHA:445038
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma	OMIM:249400
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infe...	ORPHA:17
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr...	OMIM:603471
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:229700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Renal insufficiency, Hydr...	ORPHA:228308
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Eleva...	OMIM:608779
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Triploidy	Hepatomegaly, Hypospadias, Hypoplasia of penis, Hydrocephalus, Meningocele, Holoprosencephaly, Am...	ORPHA:3376
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Cryptorchidism, Hypospadias	OMIM:175700
Maple Syrup Urine Disease, Type Ia	Hypoglycemia, Pancreatitis	OMIM:248600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Patent foramen ovale, Hypoglycemia, Contracture of the proximal ...	ORPHA:457279
Coach Syndrome 2	Hydrocephalus, Elevated circulating creatinine concentration	OMIM:619111
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent lower respiratory tract infections, Prolonged neonatal jaundice, Recurren...	OMIM:233600
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Popliteal Pterygium Syndrome	Spina bifida occulta, Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hyp...	OMIM:119500
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Multicystic kidn...	OMIM:607361
Optic Pathway Glioma	Hydrocephalus, Precocious puberty	ORPHA:2086
Bresek Syndrome	Hydrocephalus, Vesicoureteral reflux, Decreased testicular size, Renal hypoplasia, Cryptorchidism	ORPHA:85284
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Dysphagia	OMIM:207950
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia, Elevated circulating hepatic transaminase concentration, Hepatic failure, Left vent...	OMIM:619355
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Hydrocephalus, Splenomegaly, Chronic kidney disease, Ventriculome...	OMIM:615630
Plasminogen Deficiency, Type I	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Decreased level of plasminogen, Nephri...	OMIM:217090
Tenorio Syndrome	Recurrent pneumonia, Hypoglycemia, Macroglossia, Hypoinsulinemia	OMIM:616260
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Hydrocephalus, Myoglobinuria, Polycystic kidney ...	ORPHA:157
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Micropenis	OMIM:241800
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Myelomeningocele, Spina bifida, Bifid uterus, ...	ORPHA:83628
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle	OMIM:220220
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia, Cholelithiasis, Hypertrophic cardiomyopathy	OMIM:620646
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Cryptorchidism	ORPHA:2701
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Elevated circulatin...	OMIM:614576
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Dilat...	ORPHA:370959
Silver-Russell Syndrome 1	Hepatocellular carcinoma, Fasting hypoglycemia	OMIM:180860
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:208085
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia, Muscular ventricular septal defect, Elevated circulating hepatic transamin...	ORPHA:66634
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Joint contracture, Hypoglycemia, Recurrent lower respiratory tract infections	OMIM:618005
Congenital Disorder Of Glycosylation, Type Ig	Patent foramen ovale, Recurrent pneumonia, Hypoglycemia, Recurrent upper respiratory tract infect...	OMIM:607143
Shashi-Pena Syndrome	Atrial septal defect, Hypoglycemia, Limb hypertonia	OMIM:617190
Thanatophoric Dysplasia Type 2	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele	ORPHA:93274
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Stereotypical hand wringing, Self-...	OMIM:304340
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Glutaric Acidemia I	Hypoglycemia, Hepatomegaly	OMIM:231670
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Inguinal hernia	ORPHA:397590
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Fasting hyperinsulinemia, Cardiomyopathy, Impaired glucose tolerance, Reduc...	ORPHA:769
Isolated Complex I Deficiency	Hepatomegaly, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Hypoglycemia, ...	ORPHA:2609
Microphthalmia, Syndromic 9	Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hydronephrosis, Cryptorchidism, Hypoplasia of...	OMIM:601186
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst	OMIM:611134
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Renal hypoplasia	OMIM:276950
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Colpocephaly, Self-injurious behavior, Ventriculomegaly, Aggressive behavior	OMIM:619833
Fanconi-Bickel Syndrome	Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Elevated circulating alanine aminot...	OMIM:227810
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hepatomegaly, Hypoglycemia	OMIM:251110
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Hepatomegaly, Splenomegaly	ORPHA:163596
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Acute rhabdomyolysis, Hypoglycemic seizures, Elevated circulating hepatic transaminase concentrat...	ORPHA:480864
Intellectual Developmental Disorder, Autosomal Dominant 65	Attention deficit hyperactivity disorder, Compulsive behaviors, Noncommunicating hydrocephalus, A...	OMIM:619320
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Trisomy 1Q	Ambiguous genitalia, Congenital megaureter, Hydrocephalus, Hydronephrosis, Small scrotum, Ventric...	ORPHA:261344
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Neoplasm of the lung	ORPHA:1332
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Addictive alcohol use, Left ventricular...	ORPHA:90065
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis	OMIM:307000
Houge-Janssens Syndrome 2	Hydrocephalus, Ventriculomegaly, Unilateral renal agenesis	OMIM:616362
Shigellosis	Myocarditis, Splenic abscess, Cholestasis, Rhabdomyolysis, Peritonitis, Pneumonia, Hypoglycemia, ...	ORPHA:810
Genitopalatocardiac Syndrome	Hypospadias, Hydrocephalus, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism,...	ORPHA:2075
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa...	OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Abno...	OMIM:614886
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:616878
Hydrolethalus	Hydrocephalus, Cryptorchidism, Anencephaly, Abnormal fallopian tube morphology	ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Elevated circulating creatine ...	OMIM:613154
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Neonatal hypoglycemia	OMIM:617600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Cryptorchidism	ORPHA:77298
Griscelli Syndrome	Abnormal circulating lipid concentration, Hepatomegaly, Encephalocele, Hydrocephalus, Splenomegaly	ORPHA:381
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Hypospadias	OMIM:220210
Beta-Ketothiolase Deficiency	Hypoglycemia, Hepatomegaly, Hyperglycemia	ORPHA:134
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Walker-Warburg Syndrome	Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Ventriculomegaly, ...	ORPHA:899
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus	OMIM:615866
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:276700
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Neonatal hypoglycemia, Flexion contracture, Scarring alopecia of scalp	ORPHA:35173
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Recurrent pneumonia, Hepatic steatosis, Flexion contracture	OMIM:616271
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Enuresis, Attention deficit hyperactivity disorder, Tub...	ORPHA:459061
Emanuel Syndrome	Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Renal hypoplasia, Dysphagia,...	ORPHA:96170
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp...	OMIM:241080
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia	OMIM:614736
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Neonatal hypoglycemia, Cardiomyopathy, Pleural effusion, Hypertrophic cardiomyop...	OMIM:261740
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Mirage Syndrome	Hyperkalemia, Hypospadias, Hydrocephalus, Hypergonadotropic hypogonadism, Decreased testicular si...	OMIM:617053
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal morphology of fema...	ORPHA:1834
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Hyperhomocystinemia, Hydrocephalus, Hypomethioninemia, Ventriculomegaly	ORPHA:2169
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Neonatal death, Hypoglycemia	OMIM:619055
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism	ORPHA:1908
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated...	OMIM:246450
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit...	ORPHA:20
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Emanuel Syndrome	Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Renal hypoplasia, Ventriculo...	OMIM:609029
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Reni Syndrome	Hypoglycemia	OMIM:617575
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Abnormal pulmonary interstitial morphology, Elevated circula...	OMIM:613658
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Congenital Syphilis	Myocarditis, Pancreatitis, Prolonged neonatal jaundice, Hepatosplenomegaly, Pneumonia, Hypoglycemia	ORPHA:499009
Sotos Syndrome	Neonatal hypoglycemia, Muscular ventricular septal defect, Glucose intolerance, Prolonged neonata...	OMIM:117550
Functioning Gonadotropic Adenoma	Isosexual precocious puberty, Hydrocephalus, Macroorchidism, postpubertal, Oligozoospermia, Enlar...	ORPHA:91348
Leigh Syndrome	Ventricular septal defect, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Hypoglycemia, Mu...	ORPHA:506
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Hepatocellul...	OMIM:232220
Alg12-Cdg	Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Recu...	ORPHA:79324
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Hypoplasia of the uterus, Hyp...	OMIM:618419
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia of the fallopian t...	ORPHA:3464
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Umbilical hernia, Bicuspid aortic valve, Hypoglycemia, Macroglossia	OMIM:614501
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Horseshoe kidney	OMIM:614846
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Hyperactivity, Hydrocephalus, Polyphagia, Enuresis, Aplas...	ORPHA:96121
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Cryptorchidism	OMIM:310400
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Bifid uterus	ORPHA:2736
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia, Dandy-Walker malformation, Hydrocephalus, Inappropriate laughter, Ventriculomegaly	OMIM:618476
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hypertrophic card...	OMIM:252010
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Hyperactivity, Hydrocephalus, Aplasia of the ut...	ORPHA:457284
D-Glyceric Aciduria	Hypoglycemia	OMIM:220120
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Diastasis recti	ORPHA:457485
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Renal tubular acidosis, Head-banging, Hydrocephalus, Dilated third ventricle, Frequent temper tan...	OMIM:619575
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv...	ORPHA:168558
Trisomy 17P	Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, ...	ORPHA:261290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:615249
Multiple Sulfatase Deficiency	Hepatomegaly, Hydrocephalus, Increased CSF protein concentration, Mucopolysacchariduria, Splenome...	OMIM:272200
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus	ORPHA:1237
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures	ORPHA:565624
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv...	ORPHA:289548
Czeizel-Losonci Syndrome	Spina bifida occulta, Congenital megaureter, Hydrocephalus, Myelomeningocele, Spina bifida, Urete...	ORPHA:2437
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Abnormal internal genitalia, Renal cyst, Hor...	OMIM:612284
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Hyponatremia	OMIM:620157
Fg Syndrome Type 1	Hypospadias, Hydrocephalus, Compulsive behaviors, Attention deficit hyperactivity disorder, Ventr...	ORPHA:93932
Gracile Bone Dysplasia	Hypocalcemia, Micropenis, Hydrocephalus	OMIM:602361
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Albers-Schönberg Osteopetrosis	Hypocalcemia, Hydrocephalus	ORPHA:53
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia, Partial atrioventricular canal defect	OMIM:620423
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 58	Ragged-red muscle fibers, Hypoglycemia	OMIM:620451
Pontocerebellar Hypoplasia, Type 7	Ambiguous genitalia, Hydrocephalus, Ventriculomegaly, Cryptorchidism, Micropenis	OMIM:614969
3C Syndrome	Hypospadias, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Ventr...	ORPHA:7
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly, Abnormality of the uterus	ORPHA:59315
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus	OMIM:617281
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa...	ORPHA:232
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Hypoglycemia, Jaundice	ORPHA:90790
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Hydrocephalus, Vesicoureteral reflux, Cryptorchidism, Micropenis	OMIM:619951
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula,...	OMIM:201750
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly	OMIM:225790
Whipple Disease	Polydipsia, Anorexia, Hepatomegaly, Hydrocephalus, Hyponatremia, Splenomegaly	ORPHA:3452
Bannayan-Riley-Ruvalcaba Syndrome	Lipoma, Hypoglycemia, Myopathy, Skeletal muscle atrophy	ORPHA:109
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Bicornuate uterus, Renal hypoplasia, Holoprosencephaly, Cryptorchid...	OMIM:264480
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Dandy-Walker malformation, Small scrotum, Ventriculomegaly, Micropenis	OMIM:617822
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Perineal fistula, Rectovaginal fistula	ORPHA:3016
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Elevated circulating creatine kinase concentration	OMIM:616538
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Cryptorchidism	ORPHA:1647
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation, Abnormal external genitalia, Polycystic kidney dysplasi...	ORPHA:314588
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Renal insufficiency, Renal corticomedullary cysts	OMIM:219730
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Recurrent upper respiratory tract i...	OMIM:232240
Holoprosencephaly	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Omphalocele, Diabetes mellitus,...	ORPHA:2162
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Ambiguous genitalia, Hypospadias, Hydrocephalus, Microphallus, Holoprosencephaly...	OMIM:612651
Proteus-Like Syndrome	Hydrocephalus, Polycystic ovaries, Splenomegaly, Communicating hydrocephalus	ORPHA:2969
Fanconi Anemia, Complementation Group B	Hydrocephalus, Hypergonadotropic hypogonadism, Hypogonadism, Ventriculomegaly, Micropenis	OMIM:300514
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Hepatomegaly, Inguinal hernia, Cardiomyopathy, Hypoglycemia, Pol...	ORPHA:373
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Umbilical hernia, Hypoglycemia, Cholecystitis	OMIM:301066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker m...	OMIM:615287
Mosaic Trisomy 9	Abnormal lung lobation, Dextrocardia, Abnormal liver lobulation, Abnormal heart valve morphology,...	ORPHA:99776
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia	ORPHA:3301
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Nephrotic syndrome, Ne...	OMIM:146255
Mosaic Variegated Aneuploidy Syndrome 1	Ambiguous genitalia, Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malfo...	OMIM:257300
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hepatitis, Hypoglycemia	ORPHA:199299
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Vesicoureteral reflux, Horseshoe kidney	ORPHA:238769
Silver-Russell Syndrome	Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia	ORPHA:813
Joubert Syndrome 14	Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst	OMIM:614424
Menkes Disease	Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Prolonged neonatal jaundic...	ORPHA:565
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia, Torticollis	OMIM:620224
Smith-Lemli-Opitz Syndrome	Hyperactivity, Bifid scrotum, Colpocephaly, Splenomegaly, Small scrotum, Septate vagina, Hypochol...	OMIM:270400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia, Skeletal muscle atrophy	OMIM:210210
Diaphanospondylodysostosis	Pulmonary hypoplasia, Abnormal liver lobulation, Inguinal hernia	OMIM:608022
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Cryptorchidism, Hypospadias	OMIM:601499
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia, Flexion contracture	OMIM:616007
Oculodentodigital Dysplasia	Abnormal dental enamel morphology, Camptodactyly of finger, Umbilical hernia, Hypoglycemia, Ventr...	ORPHA:2710
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Hypoglycemia, Insulinoma	OMIM:131100
Histiocytoid Cardiomyopathy	Pulmonary edema, Hepatomegaly, Cardiomegaly, Hypoglycemia, Ventricular septal defect	ORPHA:137675
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Fused labia minora, Vaginal atresia, Hypoplastic labia majora	OMIM:207410
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation, Cryptorchidism	OMIM:612938
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Hydronephrosis, Ambiguous genitalia	ORPHA:2839
Perlman Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Hypoglycemia, Panc...	OMIM:267000
Desmosterolosis	Ambiguous genitalia, male, Elevated circulating desmosterol concentration, Hydrocephalus, Abnorma...	OMIM:602398
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Hydrocephalus, Aplasia of the uterus, Renal hypoplasia, Attention defi...	OMIM:614083
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Hypoketotic hypoglycemia	OMIM:610768
Cholera	Hypoglycemia, Aspiration pneumonia	ORPHA:173
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus	OMIM:615219
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia, Hepatomegaly, Splenomegaly, Hydrocephalus	OMIM:259700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pharyngitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent ...	ORPHA:293978
Joubert Syndrome 2	Nephronophthisis, Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Renal cyst, ...	OMIM:608091
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst, Polycystic kidney dysplasia	OMIM:617866
Leprechaunism	Hepatomegaly, Hyperinsulinemia, Fasting hypoglycemia, Hypertrophic cardiomyopathy, Reduced subcut...	ORPHA:508
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Jaundice	OMIM:615751
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Apla...	ORPHA:2237
Fructose Intolerance, Hereditary	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Glyco...	OMIM:229600
Wars2-Related Combined Oxidative Phosphorylation Defect	Generalized amyotrophy, Neonatal hypoglycemia, Cardiomyopathy, Limb hypertonia	ORPHA:572798
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Hydrocephalus, Vesicour...	ORPHA:322
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly, Cryptorchidism, Hypoplasia of penis	ORPHA:1812
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Lowry-Maclean Syndrome	Hydrocephalus, Hypospadias, Bilateral cryptorchidism	ORPHA:2409
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Spina bifida occulta, Vesicoureteral reflux, Bifid uterus, Cro...	OMIM:617466
Cerebral Visual Impairment	Attention deficit hyperactivity disorder, Hydrocephalus	ORPHA:447788
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Familial Glucocorticoid Deficiency	Ketotic hypoglycemia, Hypoglycemic seizures, Hypertrophic cardiomyopathy	ORPHA:361
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Increased hepatic glyc...	ORPHA:79259
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Pelvic kidney, Hydronephrosis, Cryptorchidism	OMIM:613001
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Rhabdomyosarcoma, Hepatomegaly, Neonatal hypoglycemia, Leiomyosa...	ORPHA:116
Mucopolysaccharidosis Type 3	Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Hydrocephalus, Mucopolysacchariduria, Disi...	ORPHA:581
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Azoospermia, Hydrocephalus, Decreased testicular size, Hep...	ORPHA:168569
Arachnoid Cyst	Urinary incontinence, Encephalocele, Hydrocephalus, Urinary bladder sphincter dysfunction, Enlarg...	ORPHA:2356
Hec Syndrome	Vaginal hydrocele, Communicating hydrocephalus	ORPHA:2119
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Inguinal hernia, Aortic valve atresia, Microvesicular hepatic steatosis, Hypertr...	OMIM:220111
Kabuki Syndrome 2	Pulmonic stenosis, Neonatal hypoglycemia, Atrial septal defect, Atrioventricular canal defect	OMIM:300867
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Neonatal Lupus Erythematosus	Hydrocephalus, Hepatomegaly, Splenomegaly	ORPHA:398124
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hepatomegaly, Hematuria, ...	OMIM:277400
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Orthostatic Hypotension 1	Neonatal hypoglycemia, Weakness of facial musculature	OMIM:223360
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder, C...	ORPHA:250989
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hyperhomocystinemia, Hydrocephalus, Homocystinuria, Cystathioninemia, Hypomethioninemia, Ventricu...	ORPHA:395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration, Encephalocele	OMIM:253800
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Hydrocephalus, Dermatan sulfate excretion in urine, Hepatosplenomegaly, Splenomegal...	OMIM:309900
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatomegaly, Cardiomyopathy, Diastasis recti, Omphalocele, Hepatoblastoma...	OMIM:130650
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hyperactivity, Hydrocephalus, Compulsive behaviors, Frequent temper tantrums...	OMIM:619512
Mend Syndrome	Hyperactivity, Hydrocephalus, Dandy-Walker malformation, Elevated 8(9)-cholestenol, Cryptorchidis...	ORPHA:401973
Multiple Sulfatase Deficiency	Hydrocephalus, Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:585
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Hereditary Fructose Intolerance	Jaundice, Chronic hepatic failure, Reactive hypoglycemia, Hepatomegaly	ORPHA:469
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, H...	ORPHA:3109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase con...	OMIM:614643
Peters Plus Syndrome	Ureteral duplication, Hypospadias, Spina bifida occulta, Multicystic kidney dysplasia, Hydrocepha...	ORPHA:709
Chung-Jansen Syndrome	Attention deficit hyperactivity disorder, Cryptorchidism, Impulsivity, Aggressive behavior	OMIM:617991
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Renal insufficiency, Encephalocele, Nephropathy	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Hypoplastic male external geni...	OMIM:236670
Fanconi Anemia, Complementation Group R	Hydrocephalus, Pelvic kidney	OMIM:617244
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hepatomegaly, Hyperglycemia	ORPHA:3008
Beare-Stevenson Cutis Gyrata Syndrome	Hypospadias, Hydrocephalus, Bifid scrotum, Prominent scrotal raphe, Ventriculomegaly, Hypoplastic...	OMIM:123790
Joubert Syndrome With Renal Defect	Hydrocephalus, Renal insufficiency, Encephalocele, Nephropathy	ORPHA:220497
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Elevated circulating creatine kinase concentration, Encephalocele	OMIM:613150
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Scarring, Hepatomegaly, Emphysema...	ORPHA:797
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Dilated cardiomyopathy, Abnormal heart morphology, Hypoglycemia	ORPHA:79282
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Hypokalemia, Hydrocephalus, Proteinuria, Grade II vesico...	OMIM:619377
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Uterine leiomyoma, Urinary incontinence	OMIM:616482
Meckel Syndrome, Type 1	Occipital encephalocele, Ambiguous genitalia, male, External genital hypoplasia, Cystic renal dys...	OMIM:249000
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Cryptorchidism, Bifid scrotum, Prominent scrotal raphe	ORPHA:1555
Vacterl With Hydrocephalus	Aqueductal stenosis, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Cryptorchidism	ORPHA:3412
Histidinemia	Hyperactivity, Hyperhistidinemia, Histidinuria	ORPHA:2157
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Neurogenic bladder, Spina bifida occulta, Myelomeningocele	OMIM:613686
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Hepatosplenomegaly	OMIM:259710
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Pulmonary hypoplasia	ORPHA:1848
Congenital Myopathy 22A, Classic	Mildly elevated creatine kinase, Normal pressure hydrocephalus	OMIM:620351
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Subependymal nodules, Communicating hydrocephalus, Dysphagia, Chronic kidney d...	ORPHA:25
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Cryptorchidism, Encephalocele	ORPHA:1865
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Unilater...	ORPHA:95699
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Agitation, Restrictive behavior, Hypospadias, Hematuria, Ventriculomegaly, Hyperactivity, Hyperbi...	OMIM:619475
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Hydrocephalus, Hypogonadism, Hyperphosphatemia, Cryptorchidism	OMIM:101800
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Ambiguous genitalia, Splenomegaly	ORPHA:35107
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma...	OMIM:619895
Congenital Sialidosis Type 2	Hydrocephalus, Hepatomegaly, Hepatosplenomegaly	ORPHA:93400
Monosomy 9Q22.3	Hyperactivity, Ventriculomegaly, Ovarian fibroma, Hydrocephalus	ORPHA:77301
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Insulin resistance, Abnormal heart morphology, Fasting hypoglycemia	ORPHA:96182
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Hydrocephalus, Hepatosplenomegaly, Splenomegaly, ...	OMIM:259720
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hepatomegaly, Renal insufficiency, Hydrocephalus, Nephropathy, Splenomeg...	ORPHA:1454
Glycerol Kinase Deficiency	Muscular dystrophy, Hypoglycemia, Chronic pancreatitis, Myopathy	OMIM:307030
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Hydrocephalus, Pelvic kidney, Hypergonadotropic hypogonadism, Attention deficit h...	OMIM:227646
Pituitary Apoplexy	Hypoglycemia	ORPHA:95613
Costello Syndrome	Pneumothorax, Rhabdomyosarcoma, Hypoglycemia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ach...	OMIM:218040
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Hydrocephalus, Clitoral hypoplasia, Renal hypoplasia, Hydronep...	OMIM:261540
Lateral Meningocele Syndrome	Hydrocephalus, Neurogenic bladder, Cryptorchidism, Meningocele	OMIM:130720
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Occipital meningocele, Ventriculomegaly,...	OMIM:616546
Tuberous Sclerosis Complex	Chronic kidney disease, Hyperactivity, Subependymal nodules, Polycystic kidney dysplasia, Impulsi...	ORPHA:805
Dextrocardia	Hydrocephalus, Abnormal reproductive system morphology, Abnormality of the ureter	ORPHA:1666
Dubowitz Syndrome	Abnormal female external genitalia morphology, Hypospadias, Spina bifida occulta, Hydrocephalus, ...	ORPHA:235
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Precocious puberty, Dysphagia, Self-injurious behavior	ORPHA:58
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Anencephaly, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, Splenomegaly, Ambi...	OMIM:269860
Meckel Syndrome	Ureteral duplication, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Male ...	ORPHA:564
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Ambiguous geni...	ORPHA:2166
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele, Hypospadias	ORPHA:1335
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Biliary hyperpl...	OMIM:619991
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Cryptorchidism, Impulsivity	ORPHA:589905
Acute Adrenal Insufficiency	Hypoglycemia, Recurrent acute respiratory tract infection	ORPHA:95409
Hurler Syndrome	Hepatomegaly, Hydrocephalus, Dermatan sulfate excretion in urine, Hepatosplenomegaly, Splenomegal...	OMIM:607014
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Communicating hydrocephalus, Ovarian cyst, Ventriculo...	OMIM:618188
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Atelectasis, Limb hypertonia, Splenic cyst, Patent foramen ovale, Pulmonary artery ...	OMIM:620371
Sturge-Weber Syndrome	Attention deficit hyperactivity disorder, Dysphagia, Hydrocephalus	ORPHA:3205
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm	ORPHA:65285
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Hydrocephalus, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Hypoalbumine...	ORPHA:505248
Cousin Syndrome	Ambiguous genitalia, male, Hydranencephaly, Hydrocephalus, Hydronephrosis, Ambiguous genitalia, f...	OMIM:260660
Rabin-Pappas Syndrome	Hydrocephalus, Hyponatremia	OMIM:620155
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypoglycemia, Macroglossia, Umbilical hernia	ORPHA:226307
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Communicating hydrocephalus	ORPHA:1064
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Ovarian neoplasm	ORPHA:87
Opitz-Kaveggia Syndrome	Attention deficit hyperactivity disorder, Cryptorchidism, Hypospadias, Hydrocephalus	OMIM:305450
Marden-Walker Syndrome	Epispadias, Hydroureter, Hypospadias, Hydrocephalus, Hydronephrosis, Attention deficit hyperactiv...	ORPHA:2461
Neurooculorenal Syndrome	Aqueductal stenosis, Unilateral renal agenesis, Hydrocephalus, Stage 2 chronic kidney disease, Co...	OMIM:620305
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Hydrocephalus, Dermatan sulfate excretion in urine, Splenomegaly, Urinary glycosami...	OMIM:253220
Jacobsen Syndrome	Hypospadias, Hydrocephalus, Labial hypoplasia, Clitoral hypoplasia, Holoprosencephaly, Cryptorchi...	OMIM:147791
Fraser Syndrome 3	Hydrocephalus, Ureteral agenesis, Small scrotum, Hypoplasia of penis	OMIM:617667
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ...	OMIM:614527
Mend Syndrome	Hyperactivity, Dandy-Walker malformation, Hydrocephalus, Crossed fused renal ectopia, Cryptorchidism	OMIM:300960
Gaucher Disease, Type Iiic	Hydrocephalus, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:231005
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Joubert Syndrome	Hydrocephalus, Encephalocele	ORPHA:475
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Hydrocele testis, Spina bifida	OMIM:613776
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Sheehan Syndrome	Hypoglycemia	ORPHA:91355
Meckel Syndrome 14	Occipital encephalocele, Polycystic kidney dysplasia, Aplasia of the uterus, Holoprosencephaly, A...	OMIM:619879
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Hydronephrosis, Splenomegaly, Tongue thrusting	OMIM:115150
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly, Hydrocele testis	OMIM:613603
Coccidioidomycosis	Abnormality of the female genitalia, Renal insufficiency, Hydrocephalus, CSF lymphocytic pleiocyt...	ORPHA:228123
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Hepatomegaly, Hydrocephalus, Splenomegaly, Lateral ventricle dilatation	OMIM:612301
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydrocephalus, Hydronephrosis, Cryptorchidism, Mic...	ORPHA:163979
Acute Liver Failure	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic periportal necrosis, H...	ORPHA:90062
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Achondroplasia	Hydrocephalus	ORPHA:15
Joubert Syndrome With Ocular Defect	Hydrocephalus, Encephalocele	ORPHA:220493
Apert Syndrome	Hydrocephalus, Hydronephrosis, Vaginal atresia, Ventriculomegaly, Cryptorchidism	OMIM:101200
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Motor stereotypy, Lateral ventricle dilatation	ORPHA:300570
Otopalatodigital Syndrome Type 2	Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Ureteral obstruction, Hydronephrosis	ORPHA:90652
Fanconi Anemia	Hydroureter, Hypospadias, Abnormal preputium morphology, Azoospermia, Hydrocephalus, Bicornuate u...	ORPHA:84
Monosomy 18Q	Hydrocephalus, Micropenis, Bilateral cryptorchidism	ORPHA:1600
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Occipital meningo...	ORPHA:268810
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Ureterovesical stenosis, Horseshoe kidney	ORPHA:314585
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Hydrocephalus, Testicular neoplasm, Vesicoureteral reflux, Spina bifida, Precocious ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Hydrocephalus, Testicular neoplasm, Vesicoureteral reflux, Spina bifida, Precocious ...	ORPHA:363958
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Hypospadias	OMIM:313850
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry	OMIM:616914
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Hydronephrosis	OMIM:104350
Iniencephaly	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif...	ORPHA:63259
Thakker-Donnai Syndrome	Hydronephrosis, Rectovaginal fistula, Communicating hydrocephalus	ORPHA:1780
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia	ORPHA:90791
Kabuki Syndrome	Hypospadias, Hypoplasia of penis, Hydrocephalus, Precocious puberty, Hydronephrosis, Ureteropelvi...	ORPHA:2322
Laurin-Sandrow Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:2378
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus, Cardiomegaly, Left ventricular hypertrophy	OMIM:245600
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Lymphangioleiomyomatosis	Hematuria, Hydrocephalus, Abnormal morphology of female internal genitalia, Multiple renal cysts,...	ORPHA:538
Cardiofaciocutaneous Syndrome	Hydrocephalus, Cryptorchidism, Hydronephrosis	ORPHA:1340
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Neurogenic bladder, Dermal sinus tract, Myelomeningocel...	OMIM:600145
Primary Fanconi Renotubular Syndrome	Glycosuria, Hypoglycemia, Pulmonary fibrosis	ORPHA:3337
Raine Syndrome	Hydrocephalus, Hydronephrosis, Hydroureter, Hypophosphatemia	OMIM:259775
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size, Renal hypoplasia, Mi...	OMIM:619321
Craniopharyngioma	Hydrocephalus, Hypogonadotropic hypogonadism, Polyphagia, Hypogonadism	ORPHA:54595
Deeah Syndrome	Neonatal hypoglycemia, Hepatomegaly, Exocrine pancreatic insufficiency	OMIM:619004
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Hypoplastic male external genitalia, Ven...	OMIM:605627
22Q11.2 Deletion Syndrome	Hypospadias, Meningocele, Hypocalcemia, Hydrocephalus, Polycystic kidney dysplasia, Vesicouretera...	ORPHA:567
Gorlin Syndrome	Hydrocephalus, Ovarian fibroma, Cryptorchidism, Hypogonadotropic hypogonadism	ORPHA:377
Mucopolysaccharidosis Type 1	Hydrocephalus, Mucopolysacchariduria, Splenomegaly	ORPHA:579
Tetraamelia Syndrome 1	Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Urethral atresia, Absent extern...	OMIM:273395
Hurler Syndrome	Hydrocephalus, Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93473
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Neonatal hypoglycemia, Neonatal death	OMIM:617248
Basal Cell Nevus Syndrome 1	Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida	OMIM:109400
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Communicating hydrocephalus	ORPHA:168577
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Cryptorchidism	OMIM:182212
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology, Hydrocephalus,...	ORPHA:2556
Distal 22Q11.2 Microduplication Syndrome	Attention deficit hyperactivity disorder, Cryptorchidism, Unilateral renal agenesis, Hydrocephalus	ORPHA:261337
Orofaciodigital Syndrome I	Hydrocephalus, Polycystic kidney dysplasia, Myelomeningocele, Ovarian cyst, Proteinuria	OMIM:311200
Addison Disease	Type I diabetes mellitus, Hypoglycemia	ORPHA:85138
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Pericarditis, Hy...	ORPHA:99826
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Impulsivity, Communicating hydrocephalus, ...	ORPHA:580
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Splenomegaly, Communicating hydrocephalus	OMIM:616084
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly, Cryptorchidism, Proteinuria	ORPHA:1272
Stromme Syndrome	Hydrocephalus, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, External genital hypoplasia, Hypospadias, Hydrocephalus, Cryptorchidism, Hypogonadism...	ORPHA:2658
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Encephalocele, Hydrocephalus, Bicornuate uterus, Myelomeningoc...	OMIM:219000
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation, Nephrocalcinosis, Hydronephrosis, Cryptorchidism, Micro...	ORPHA:264450
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine, Splenomegaly	OMIM:253200
Knobloch Syndrome	Hydrocephalus, Occipital encephalocele, Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Marshall-Smith Syndrome	Hydrocephalus, Ventriculomegaly, Cryptorchidism, Bilateral cryptorchidism	OMIM:602535
Gaucher Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hematuria, Elevated circulating C-reactive...	ORPHA:355
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Aqueductal stenosis, Unilateral renal agenesis, Bicornuate uterus	OMIM:154400
Generalized Glucocorticoid Resistance Syndrome	Hypoglycemia	ORPHA:786
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Hajdu-Cheney Syndrome	Hypospadias, Hydrocephalus, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism	OMIM:102500
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc...	OMIM:610828
Achondroplasia	Hydrocephalus	OMIM:100800
Tetrasomy 9P	Inappropriate behavior, Hyperactivity, Dandy-Walker malformation, Hydrocephalus, Oligozoospermia,...	ORPHA:3310
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Hydrocephalus, Vesicoureteral reflux, Bif...	OMIM:107480
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Hydrocephalus, Splenomegaly, Multiple renal cysts	ORPHA:955
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ectopic kidney	ORPHA:268249
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Enlarged kidney, Hepatomegaly, Hydrocephalus, Myelomeningocele, Cardiomegaly...	OMIM:306955
Medulloblastoma	Hydrocephalus	ORPHA:616
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Multicystic kidney dysplasia, Spina bifida occulta	OMIM:300373
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Cryptorchidism, Communicating hydrocephalus	ORPHA:2462
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho...	OMIM:610829
Cockayne Syndrome A	Normal pressure hydrocephalus, Hepatomegaly, Renal insufficiency, Splenomegaly, Hypogonadism, Pro...	OMIM:216400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Azoospermia, Hydrocephalus, Hepatosplenomegaly, Splenomegaly, Ventricul...	ORPHA:2072
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Wolf-Hirschhorn Syndrome	Hypospadias, Hydrocephalus, Aplasia of the uterus, Precocious puberty, Motor stereotypy, Ventricu...	OMIM:194190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia, Facial hypotonia	ORPHA:457359
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:91350
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hypospadias, Communicating hydrocephalus, Chordee, Crossed fused renal ectopia, Mild fetal ventri...	OMIM:619841
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Hypocalcemia, Hydrocephalus, Splenomegaly, Hypophosphatemia	ORPHA:667
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Ectopic kidney, Hydrocephalus, Abnormal external genitalia, Polyphagia, Oppositional...	OMIM:607872
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Hyperbilirubinemia, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Col...	OMIM:210710
Campomelic Dysplasia	Hypospadias, Hydrocephalus, Spina bifida, Hydronephrosis, Spinal dysraphism, Sex reversal	OMIM:114290
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis, Meningocele	ORPHA:2879
Cryptococcosis	Hydrocephalus, Prostatitis	ORPHA:1546
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Neurogenic bladder	ORPHA:137667
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Hydrocephalus, Renal artery stenosis, Renovascular hypertensio...	ORPHA:3472
Holoprosencephaly 1	Hypoglycemia, Single ventricle	OMIM:236100
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Hyperinsulin...	ORPHA:79318
Cockayne Syndrome B	Normal pressure hydrocephalus, Hepatomegaly, Renal insufficiency, Splenomegaly, Proteinuria, Cryp...	OMIM:133540
Hydrolethalus Syndrome 1	Hypospadias, Anencephaly, Abnormal vagina morphology, Dandy-Walker malformation, Bifid uterus, Hy...	OMIM:236680
Kabuki Syndrome 1	Anoperineal fistula, Hydrocephalus, Premature thelarche, Hydronephrosis, Ureteropelvic junction o...	OMIM:147920
Osteogenesis Imperfecta	Hydrocephalus, Hypercalciuria, Nephrolithiasis, Dysphagia, Noncommunicating hydrocephalus, Ventri...	ORPHA:666
Pseudoaminopterin Syndrome	Hydrocephalus, Cryptorchidism, Horseshoe kidney	ORPHA:221120
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Renal artery stenosis, Spina bifida	OMIM:162200
Microphthalmia With Limb Anomalies	Hydrocephalus, Cryptorchidism, Horseshoe kidney	ORPHA:1106
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Dysphagia	ORPHA:637
Focal Dermal Hypoplasia	Ureteral duplication, Spina bifida occulta, Hydrocephalus, Labial hypoplasia, Myelomeningocele, C...	OMIM:305600
Fontaine Progeroid Syndrome	Hydrocephalus, Left ventricular hypertrophy, Small scrotum, Cryptorchidism, Micropenis, Hypoplast...	OMIM:612289
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Sotos Syndrome	Ankle flexion contracture, Neonatal hypoglycemia, Small cell lung carcinoma, Inguinal hernia, Bil...	ORPHA:821
Alobar Holoprosencephaly	Attention deficit hyperactivity disorder, Neural tube defect, Dysphagia, Hydrocephalus	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Attention deficit hyperactivity disorder, Neural tube defect, Dysphagia, Hydrocephalus	ORPHA:93926
Lobar Holoprosencephaly	Attention deficit hyperactivity disorder, Neural tube defect, Dysphagia, Hydrocephalus	ORPHA:93924
Semilobar Holoprosencephaly	Attention deficit hyperactivity disorder, Neural tube defect, Dysphagia, Hydrocephalus	ORPHA:220386
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Long penis, Hydrocephalus, Dandy-Walker malformation, Dysphagi...	OMIM:264090
Meningioma	Hydrocephalus, Urinary incontinence, Hypogonadotropic hypogonadism	ORPHA:2495
Biliary, Renal, Neurologic, And Skeletal Syndrome	Stage 5 chronic kidney disease, Aqueductal stenosis, Hepatomegaly, Renal insufficiency, Hydroceph...	OMIM:619534
Neurofibromatosis Type 1	Attention deficit hyperactivity disorder, Cryptorchidism, Precocious puberty, Hydrocephalus	ORPHA:636
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto...	OMIM:618280
Alpha-Mannosidosis, Infantile Form	Oligosacchariduria, Hepatosplenomegaly, Communicating hydrocephalus	ORPHA:309282
Limb Body Wall Complex	Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida	ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly, Elevated circulating creatine kinase concentration	OMIM:253280
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Bilateral cryptorchidism, Hydronep...	OMIM:616462
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus, Spina bifida, Hepatosplenomeg...	OMIM:274000
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Hypospadias, Spina bifida occulta, Ectopic kidney, Dandy-Walke...	OMIM:135900
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Hydrocephalus, Dilatation of renal calices, Vesicoureteral ref...	ORPHA:3455
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Hydrocephalus, Polycystic k...	OMIM:268300
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Bilateral cryptorchidism, Hypogonadism	ORPHA:3042
Neu-Laxova Syndrome 1	Hydranencephaly, Dandy-Walker malformation, Choroid plexus cyst, Spina bifida, Bifid uterus, Vent...	OMIM:256520
Coffin-Siris Syndrome 12	Hypospadias, Noncommunicating hydrocephalus, Motor stereotypy, Cryptorchidism, Horseshoe kidney	OMIM:619325
Baller-Gerold Syndrome	Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta	OMIM:218600
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Attention deficit hyperactivity disorder, Hydronephrosis, Hydrocephalus	ORPHA:363700
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Hydrocephalus, Renal cyst, Hydronephrosis, Splenomega...	OMIM:312870
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Cryptorchidism	OMIM:208150
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Otopalatodigital Syndrome, Type Ii	Hypospadias, Hydrocephalus, Spina bifida, Hydronephrosis, Cryptorchidism	OMIM:304120
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Hydronephrosis, Splenomegaly, Ureteropelvic junction obstruct...	ORPHA:2729
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:175780
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Norrie Disease	Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavi...	ORPHA:649
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Occipital meningocele, Small ...	OMIM:276820
Ehlers-Danlos Syndrome, Vascular Type	Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Uterine prolapse, Renovascular hypertension, Bladder d...	ORPHA:286
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal cyst, S...	OMIM:601803
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Hydrocephalus, Vesicoureteral reflux, Ureteropelvic junc...	OMIM:164210
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Brain - MPATH pathological entity term hydrocephalus	Phip^em1(IMPC)Tcp	HET		Early adult
Brain - MPATH pathological process term developmental dysplasia	Phip^em1(IMPC)Tcp	HET		Early adult

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 Phip.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Phip^{em1(IMPC)Wtsi}	PMC7263671

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Phip MGI:1932404

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

Gross Pathology and Tissue Collection

X-ray

MicroCT E14.5-E15.5

Eye Morphology

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X-ray

Human diseases caused by Phip mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data