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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
small uterus	Phip^em1(IMPC)Tcp	HET	Early adult	0.00
decreased body length	Phip^{em1(IMPC)Wtsi}	HET	Early adult	3.03×10^-10
increased circulating aspartate transaminase level	Phip^em1(IMPC)Tcp	HET	Early adult	1.15×10^-05
hydrocephaly	Phip^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal cranium morphology	Phip^em1(IMPC)Tcp	HET	Early adult	2.92×10^-06
increased leukocyte cell number	Phip^{em1(IMPC)Wtsi}	HET	Early adult	3.22×10^-05
hyperactivity	Phip^em1(IMPC)Tcp	HET	Early adult	1.06×10^-05
enlarged urinary bladder	Phip^em1(IMPC)Tcp	HET	Early adult	0.00
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
decreased circulating chloride level	Phip^{em1(IMPC)Wtsi}	HET	Early adult	6.47×10^-06

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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 Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 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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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

5 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 (853 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		Cryptorchidism, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:617991
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome		Cryptorchidism, Attention deficit hyperactivity disorder, Impulsivity	ORPHA:589905

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

Disease	Matching phenotypes	Source
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hypoglycemia, Hepatomegaly	OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	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	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormal repetitive mannerisms, Ventriculomegaly, Attention deficit hyperactivity ...	OMIM:618709
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:232700
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypoglycemia	ORPHA:366
Schizophrenia 15	Hyperactivity	OMIM:613950
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation	OMIM:607091
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:446
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiomyopath...	OMIM:232400
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ...	ORPHA:171706
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cir...	ORPHA:369
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:619048
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep...	OMIM:300559
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, H...	ORPHA:276580
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Hydrocephalus, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619470
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder	ORPHA:250994
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Propionic Acidemia	Cardiomyopathy, Hypoglycemia, Hepatomegaly	ORPHA:35
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Hemochromatosis, Neonatal	Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat...	OMIM:231100
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Hypoglycemia, Endocardial fibroelastosis	ORPHA:2022
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl...	OMIM:261750
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration	OMIM:266100
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Hypertrophic...	OMIM:246900
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hyp...	ORPHA:276575
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:276556
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo...	ORPHA:293964
Edinburgh Malformation Syndrome	Hydrocephalus, Neonatal hyperbilirubinemia	OMIM:129850
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li...	ORPHA:3032
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis	OMIM:620357
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Hypoglycemia, Decreased liver function	ORPHA:67048
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder	ORPHA:261102
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus	OMIM:258320
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,...	OMIM:613027
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatic steatosis, Myopathy, Ketotic hypoglycemia	ORPHA:26792
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Ventriculomegaly	OMIM:301107
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus, Self-mutilation	OMIM:300884
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia	OMIM:605899
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619386
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures	OMIM:620211
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Ketotic hypoglycemia, Pulmonic stenosis	ORPHA:79159
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Hydrocephalus, Attention deficit hyperactivi...	ORPHA:649929
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia	OMIM:614741
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Abnormal heart morphology	ORPHA:231147
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:617872
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating alanine aminotransferase concentration, Lower limb muscle weakness, Elevated...	OMIM:617950
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Diastasis recti, Neonatal hypoglycemia	ORPHA:231140
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Fried Syndrome	Hydrocephalus, Aggressive behavior	ORPHA:85335
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Hypoglycemia, Pancreatitis	OMIM:620137
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper...	OMIM:231530
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Hypertrophic ...	ORPHA:156
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase	OMIM:615160
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly	OMIM:306000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Cardiomegaly,...	ORPHA:42
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy	OMIM:616483
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid...	OMIM:271980
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Hypoglycemia, Ankle flexion contracture	OMIM:618120
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiomyopathy, Hepatic failure	ORPHA:2394
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia	OMIM:618958
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Hypoglycemia, Acute rhabdomyolysis	ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion	OMIM:614702
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas...	OMIM:261600
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:617049
Mehmo Syndrome	Hypoglycemia	OMIM:300148
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy	OMIM:610006
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Rhabdomyolysi...	OMIM:212138
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit hyperactivity di...	OMIM:617914
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Recurrent respiratory infections, Hypoglycemia	ORPHA:364
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:300438
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Amed Syndrome, Digenic	Hypoplasia of the uterus, Attention deficit hyperactivity disorder	OMIM:619151
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation	OMIM:300558
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:266150
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:245400
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Hypoglycemia	ORPHA:289504
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypoglycemia, Tetralogy of Fallot...	OMIM:601005
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Cardiomegaly	OMIM:300886
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase	OMIM:600705
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Diencephalic Syndrome	Hydrocephalus, Long penis	ORPHA:1672
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Donohue Syndrome	Skeletal muscle atrophy, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pa...	OMIM:246200
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Hypoglycemia, Decreased liver function	OMIM:618839
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa...	ORPHA:228305
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Hypertrophic cardiomyopathy, Hypoglycemia, Decreased liver function	OMIM:618835
47,Xyy Syndrome	Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoosper...	ORPHA:8
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Dilated cardiomyop...	OMIM:611126
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Glycosuria, Pancreatic islet-cell ...	ORPHA:263455
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic pleiocytosis, Vent...	OMIM:610333
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Increased sar...	ORPHA:264580
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the lung, Neoplasm of the liver, Recurr...	ORPHA:2126
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh...	OMIM:619827
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Cardiomegaly, Hepatocellu...	OMIM:201475
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Neonatal death, Hepatic p...	OMIM:231680
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF lysine concentr...	OMIM:616034
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Dilated cardiomyopat...	OMIM:620300
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic...	OMIM:251880
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino...	ORPHA:2088
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Ketotic hypoglycemia, Hepat...	ORPHA:79240
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit...	OMIM:620141
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating ...	OMIM:256810
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Cholestasis	OMIM:201400
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria	ORPHA:2089
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Nephrotic...	OMIM:269920
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Left ventric...	OMIM:613153
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Hepatic failure	ORPHA:79239
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly	OMIM:618577
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Hypoglycemia...	OMIM:619418
Congenital Toxoplasmosis	Hepatomegaly, Hydrocephalus, Ventriculomegaly, Cardiomegaly	ORPHA:858
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Fasting hyperinsuli...	ORPHA:71212
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Cardiomyopathy, Pancreatitis, Limb hypertonia	OMIM:606054
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorde...	OMIM:609757
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemia, Hepatosplenomegaly	ORPHA:79237
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan...	ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Nemaline bodies	OMIM:620275
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:613155
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Limb hypertonia	OMIM:617710
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele, Elevated circulating creatine kinase concentration	ORPHA:588
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Nasu-Hakola Disease	Hydrocephalus, Disinhibition, Ventriculomegaly	ORPHA:2770
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Hyperechogenic pancreas, A...	ORPHA:456312
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Temple Syndrome	Precocious puberty, Cryptorchidism, Hydrocephalus, Polyphagia	ORPHA:254516
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Meckel Syndrome 12	Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia	OMIM:616258
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Blue Diaper Syndrome	Elevated hepatic transaminase, Recurrent hypoglycemia, Increased proinsulin:insulin ratio	ORPHA:94086
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Hypoglycemia, Pancreatitis, Hepatomegaly	OMIM:251000
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia	ORPHA:95428
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Obsessive-compulsive trait, Hypo...	ORPHA:500055
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tu...	ORPHA:722
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice	ORPHA:199296
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Multiple pancreatic beta-cell adenomas, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Di...	ORPHA:79644
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Hypoglycemia	OMIM:616355
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi...	ORPHA:348
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Cardiomegaly	OMIM:618838
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati...	OMIM:602200
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Neonatal hypoglycemia	OMIM:619046
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia	ORPHA:391408
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci...	ORPHA:101330
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
B4Galt1-Cdg	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hydrocephalus, De...	ORPHA:79332
6P22 Microdeletion Syndrome	Hydrocephalus, Hydronephrosis	ORPHA:251046
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio...	OMIM:137920
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia	ORPHA:163961
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:615181
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Proximal muscle weakness in lower limbs, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:617093
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly	ORPHA:391428
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe...	OMIM:609069
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Smith-Kingsmore Syndrome	Umbilical hernia, Hypoglycemia, Diastasis recti	OMIM:616638
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Rha...	OMIM:609015
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Fasting hypoglycemia...	ORPHA:159
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dilated cardiomyop...	ORPHA:99901
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Diabetic Embryopathy	Ureteral duplication, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morp...	ORPHA:1926
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis	ORPHA:171839
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Hydrocephalus	ORPHA:99947
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly	OMIM:175700
Temple Syndrome	Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Hydrocephalus, Hypercholesterolemia, De...	OMIM:616222
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Insulin-Resistance Syndrome Type B	Pneumonia, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Bil...	ORPHA:2298
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Ventriculomegaly	OMIM:218350
Immunodeficiency, Common Variable, 10	Recurrent viral upper respiratory tract infections, Recurrent pneumonia, Hypoglycemia, Recurrent ...	OMIM:615577
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase	OMIM:615453
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia	OMIM:606407
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Cholestasis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrophy, Dif...	ORPHA:746
Laron Syndrome	Hypoglycemia	ORPHA:633
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Ventricular septal ...	ORPHA:26793
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:246450
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:615862
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Rhabd...	OMIM:124000
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Fasting hypogly...	OMIM:232200
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea...	OMIM:618329
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni...	OMIM:309801
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Maple Syrup Urine Disease	Hypoglycemia, Pancreatitis	OMIM:248600
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Pneumothorax, Cardiomyopathy, Hepatic steatosis, Neonatal hypoglyc...	ORPHA:445038
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect, Hypoglycemia	OMIM:608688
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Skeletal muscle atrophy, Recurrent respiratory infections, Hepatic...	ORPHA:17
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:608779
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Coach Syndrome 2	Hydrocephalus, Elevated circulating creatinine concentration	OMIM:619111
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Hypoglycemia, ...	ORPHA:457279
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hepatomegaly, Hydrocephalus, Dandy-Walker ...	OMIM:607361
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase	OMIM:619355
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holop...	ORPHA:3376
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Hydrocephalus, Chronic kidney disease, Nephronophthisis, Ventriculome...	OMIM:615630
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia	OMIM:207950
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Recurrent upper respiratory tract infections, Prolonged neonatal jaun...	OMIM:233600
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Pallister-Hall-Like Syndrome	Occipital encephalocele, Micropenis, Hydrocephalus	OMIM:241800
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Tenorio Syndrome	Macroglossia, Recurrent pneumonia, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Plasminogen Deficiency, Type I	Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Dandy-Walker malformation, Nephri...	OMIM:217090
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Bresek Syndrome	Cryptorchidism, Hydrocephalus, Renal hypoplasia, Vesicoureteral reflux, Decreased testicular size	ORPHA:85284
Silver-Russell Syndrome 1	Fasting hypoglycemia, Hepatocellular carcinoma	OMIM:180860
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ventricular septal defe...	ORPHA:66634
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Sple...	OMIM:614576
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Elevated circulating creatine kinase concentra...	ORPHA:370959
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Recurrent lower respiratory tract infections, Joint contracture, Hypoglycemia	OMIM:618005
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou...	ORPHA:83628
Shashi-Pena Syndrome	Atrial septal defect, Hypoglycemia, Limb hypertonia	OMIM:617190
Pettigrew Syndrome	Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Self-injurious behavio...	OMIM:304340
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Patent foramen ovale, Recurrent pneumonia, Hypoglyc...	OMIM:607143
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Impaired glucose tolerance, Insul...	ORPHA:769
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Hypoglycemia	ORPHA:397590
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia	OMIM:231670
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Addictive alcohol use, Left ventricular...	ORPHA:90065
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation	OMIM:611134
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Ventriculomegaly	OMIM:619833
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:227810
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Hydrocephalus	ORPHA:163596
Isolated Complex I Deficiency	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal mitochondria...	ORPHA:2609
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Renal hypoplasia	OMIM:276950
Intellectual Developmental Disorder, Autosomal Dominant 65	Attention deficit hyperactivity disorder, Noncommunicating hydrocephalus, Compulsive behaviors, A...	OMIM:619320
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyolysis, Hypoglycemic seizures, EMG: my...	ORPHA:480864
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Microphthalmia, Syndromic 9	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ...	OMIM:601186
Medullary Thyroid Carcinoma	Neoplasm of the lung, Abnormal liver parenchyma morphology	ORPHA:1332
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydrocephalus, Congenital megaureter...	ORPHA:261344
Oeis Complex	Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta...	OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Lateral vent...	OMIM:613154
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Splenomegaly, P...	OMIM:276700
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyolysis, Rhabdomyolysis, Hypertrophic c...	OMIM:616878
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Hogue-Janssen Syndrome 2	Unilateral renal agenesis, Hydrocephalus, Ventriculomegaly	OMIM:616362
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Pulmonic stenosis	OMIM:617600
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Shigellosis	Hypoglycemia, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Cholestasis, Splenic abscess, ...	ORPHA:810
Griscelli Syndrome	Encephalocele, Hepatomegaly, Splenomegaly, Hydrocephalus, Abnormal circulating lipid concentration	ORPHA:381
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Hypospadias, Hydronephrosis, Dandy-Walker malformation	OMIM:220210
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocepha...	ORPHA:2075
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Renal tubular dysfunction, Hyperbilirubinemia, Abnormality of the male genitalia, ...	OMIM:614886
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology	ORPHA:2189
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:134
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Attention deficit hyperactivity disorder, ...	ORPHA:459061
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia	OMIM:614736
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Flexion contracture, Hepatic steatosis, Recurrent pneumonia	OMIM:616271
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus	OMIM:615866
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Walker-Warburg Syndrome	Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Abnormal circulating creati...	ORPHA:899
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal morphology of female internal geni...	ORPHA:1834
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Hemolytic-uremic syndrome, Hydrocephalus, Hyperhomocystinemia, Ventriculomegaly	ORPHA:2169
Emanuel Syndrome	Ventriculomegaly, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Hyp...	ORPHA:96170
Reni Syndrome	Hypoglycemia	OMIM:617575
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:377
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hep...	OMIM:232220
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic...	ORPHA:20
Pituitary Hormone Deficiency, Combined, 6	Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Glucose intolerance, Prolonged neo...	OMIM:117550
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Hypoglycemia, My...	ORPHA:506
Emanuel Syndrome	Ventriculomegaly, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Mic...	OMIM:609029
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Bicuspid aortic valve, Hypoglycemia, Macroglossia, Umbilical hernia, Aortic valve stenosis	OMIM:614501
D-Glyceric Aciduria	Hypoglycemia	OMIM:220120
Mirage Syndrome	Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Hyperka...	OMIM:617053
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Isosexual precocious puberty, Enlarged polycystic ovaries, Hydrocep...	ORPHA:91348
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Portal hypertension, Abnormal pulmo...	OMIM:613658
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis...	OMIM:618419
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Inappropriate laughter, Hypocalcemia, Dandy-Walker malformation, Ventriculomegaly	OMIM:618476
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Crypto...	ORPHA:96121
Tetrasomy 15Q26	Hydrocephalus, Hydronephrosis, Dandy-Walker malformation, Horseshoe kidney	OMIM:614846
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Alg12-Cdg	Elevated hepatic transaminase, Recurrent respiratory infections, Recurrent pharyngitis, Muscular ...	ORPHA:79324
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Hypoplasia of the uterus, Abnorma...	ORPHA:3464
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Bifid uterus	ORPHA:2736
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Unilateral renal agenesis, Hydrocephalus, Aplasia of the vagina, Aplasia of the ut...	ORPHA:457284
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Diastasis recti, Neonatal hypoglycemia	ORPHA:457485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:615249
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Congenital foot contractures, Limb hypertonia	ORPHA:565624
Trisomy 17P	Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi...	ORPHA:261290
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Splenomegaly, Ragged-red muscle fibers, Conc...	OMIM:252010
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Meckel Syndrome, Type 6	Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Hor...	OMIM:612284
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaureter, Spina bi...	ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Hydrocephalus	OMIM:620157
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Albers-Schönberg Osteopetrosis	Hydrocephalus, Hypocalcemia	ORPHA:53
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Renal tubular...	OMIM:619575
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
3C Syndrome	Hypoplasia of penis, Ventriculomegaly, Hypospadias, Hydrocephalus, Hydronephrosis, Dandy-Walker m...	ORPHA:7
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, C...	ORPHA:168558
Gracile Bone Dysplasia	Hydrocephalus, Micropenis, Hypocalcemia	OMIM:602361
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentra...	OMIM:272200
Rhombencephalosynapsis	Hydrocephalus, Abnormality of the uterus, Ventriculomegaly	ORPHA:59315
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Fg Syndrome Type 1	Hypospadias, Cryptorchidism, Hydrocephalus, Compulsive behaviors, Attention deficit hyperactivity...	ORPHA:93932
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus	ORPHA:1237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Multicystic kidney dyspla...	OMIM:615287
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, C...	ORPHA:289548
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Bicornuate uterus, Holoprosenceph...	OMIM:264480
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly	OMIM:614969
Bannayan-Riley-Ruvalcaba Syndrome	Lipoma, Skeletal muscle atrophy, Hypoglycemia, Myopathy	ORPHA:109
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Hydrocephalus, Micropenis, Dandy-Walker malformation	OMIM:617822
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur...	ORPHA:90793
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Jaundice, Hypoglycemia, Pneumonia	ORPHA:90790
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Holoprosencephaly	Omphalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, C...	ORPHA:2162
Whipple Disease	Hyponatremia, Hepatomegaly, Anorexia, Splenomegaly, Hydrocephalus, Polydipsia	ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly	OMIM:616538
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Fused labia majora, Bifid scrotum, Small scrotum, Hypospadias, Cryptorchidism, Vesi...	OMIM:201750
Simpson-Golabi-Behmel Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, C...	ORPHA:373
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Hydrocephalus, Renal corticomedullary cysts, Ventriculomegaly	OMIM:219730
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Crouzon Syndrome	Hydrocephalus	ORPHA:207
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Hypoglycemia	OMIM:210210
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Umbilical hernia, Cholelithiasis	OMIM:301066
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Proteus-Like Syndrome	Communicating hydrocephalus, Splenomegaly, Hydrocephalus, Polycystic ovaries	ORPHA:2969
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly	OMIM:300514
Silver-Russell Syndrome	Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia	ORPHA:813
Distal Triplication 15Q	Abnormal external genitalia, Hydrocephalus, Horseshoe kidney, Hydrocele testis, Polycystic kidney...	ORPHA:314588
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen...	OMIM:612651
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
1Q44 Microdeletion Syndrome	Vesicoureteral reflux, Hydrocephalus, Ventriculomegaly, Horseshoe kidney	ORPHA:238769
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Dandy-Walker malformation	OMIM:614424
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Recurrent upper respiratory tract infections, H...	OMIM:232240
Menkes Disease	Inguinal hernia, Hypoglycemia, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical sca...	ORPHA:565
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Multicystic kidney dysplasia, Vaginal atresia	ORPHA:3301
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci...	OMIM:146255
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Hypoglycemia	OMIM:620224
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia, Hepatitis	ORPHA:199299
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Hypoglycemia	OMIM:616007
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Holoprosencephaly, Hypocholesterolemia...	OMIM:270400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Vesicoureteral reflux, Micropenis	OMIM:619951
Oculodentodigital Dysplasia	Ventricular septal defect, Abnormal dental enamel morphology, Camptodactyly of finger, Hypoglycem...	ORPHA:2710
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ventriculomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydro...	OMIM:257300
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Hepatomegaly, Hydrocephalus, Hypocalcemia	OMIM:259700
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Diaphanospondylodysostosis	Inguinal hernia, Abnormal liver lobulation, Pulmonary hypoplasia	OMIM:608022
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Pancreatic islet-cell hyperplasia, Congenital diaph...	OMIM:267000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Pulmonary edema	ORPHA:137675
Multiple Endocrine Neoplasia, Type I	Insulinoma, Hypoglycemia, Pancreatic islet cell adenoma, Subcutaneous lipoma	OMIM:131100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Orthostatic Hypotension 1	Weakness of facial musculature, Neonatal hypoglycemia	OMIM:223360
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Hydrocephalus, Ambiguous genitalia, Hydronephrosis	ORPHA:2839
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Aplasia of the uterus, Attention defi...	OMIM:614083
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Insulin resistance, H...	ORPHA:508
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora	OMIM:207410
Desmosterolosis	Ventriculomegaly, Hydrocephalus, Ambiguous genitalia, female, Abnormal circulating cholesterol co...	OMIM:602398
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Hypoketotic hypoglycemia	OMIM:610768
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Hepat...	OMIM:229600
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Ventriculomegaly	OMIM:617866
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:601499
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Neonatal hypoglycemia, Limb hypertonia	ORPHA:572798
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hypoglycemia	OMIM:615751
Cholera	Hypoglycemia, Aspiration pneumonia	ORPHA:173
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney	OMIM:314390
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Hydronephrosis,...	ORPHA:2237
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Diastasis recti, Rhabdomyosarcoma, Cong...	ORPHA:116
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Cerebral Visual Impairment	Hydrocephalus, Attention deficit hyperactivity disorder	ORPHA:447788
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ...	OMIM:608091
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Spina bifida, Bifid uterus, Epispadias,...	ORPHA:322
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Hydrocephalus, Disinhibiti...	ORPHA:2356
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypoglycemia, Hepatocellular adenoma, Hypoglycemic seizures, Hepatocellular carcino...	ORPHA:79259
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypospadias	ORPHA:2409
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Neonatal hypoglycemia, Pulmonic stenosis	OMIM:300867
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hypoplasia of penis, Hydrocephalus, Ventriculomegaly	ORPHA:1812
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Homocystinuria, Ventricu...	ORPHA:395
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Increased hepatocellular li...	OMIM:220111
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
H Syndrome	Hypertriglyceridemia, Hydrocephalus, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, D...	ORPHA:168569
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Neonatal Lupus Erythematosus	Splenomegaly, Hepatomegaly, Hydrocephalus	ORPHA:398124
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia	ORPHA:469
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation	OMIM:613001
Mucopolysaccharidosis Type 3	Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Hypersexual...	ORPHA:581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration	OMIM:253800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu...	OMIM:614643
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, C...	OMIM:130650
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Dilated cardiomyopathy, Hypoglycemia, Abnormal heart morphology	ORPHA:79282
Joubert Syndrome With Oculorenal Defect	Encephalocele, Nephropathy, Hydrocephalus, Renal insufficiency	ORPHA:2318
Glycerol Kinase Deficiency	Myopathy, Hypoglycemia, Muscular dystrophy, Chronic pancreatitis	OMIM:307030
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Joubert Syndrome With Renal Defect	Encephalocele, Nephropathy, Hydrocephalus, Renal insufficiency	ORPHA:220497
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Vesicoureteral reflux, H...	ORPHA:250989
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:3008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Cr...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly	OMIM:613150
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven...	OMIM:123790
Fanconi Anemia, Complementation Group R	Hydrocephalus, Pelvic kidney	OMIM:617244
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Self-injurious behavior, Compu...	OMIM:619512
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,...	OMIM:249000
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Hydrocephalus, Mucopolysacchariduria	ORPHA:585
Mend Syndrome	Hyperactivity, Aggressive behavior, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-...	ORPHA:401973
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Dermatan sulfate e...	OMIM:309900
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Uterine leiomyoma, Urinary incontinence, Hydrocephalus	OMIM:616482
Chung-Jansen Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:617991
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Hepatosplenomegaly	OMIM:259710
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pharyngitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchi...	ORPHA:293978
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydrocephalus, H...	ORPHA:709
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Osteootohepatoenteric Syndrome	Proteinuria, Hydrocephalus, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile aci...	OMIM:619377
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology	ORPHA:3412
Sarcoidosis	Hepatomegaly, Abnormal nasal mucosa morphology, Facial palsy, Abnormal pleura morphology, Scarrin...	ORPHA:797
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Pulmonary hypoplasia	ORPHA:1848
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Pituitary Apoplexy	Hypoglycemia	ORPHA:95613
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subependymal nodules, Dys...	ORPHA:25
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe	ORPHA:1555
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Restrictive behavior, Hyperactivity, Violent behavior, Hypospadias, Impulsivity, A...	OMIM:619475
Desmosterolosis	Ambiguous genitalia, Splenomegaly, Hydrocephalus, Ventriculomegaly	ORPHA:35107
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, ...	OMIM:259720
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Congenital Sialidosis Type 2	Hepatomegaly, Hydrocephalus, Hepatosplenomegaly	ORPHA:93400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Decreased muscle mass, Fasting hypoglycemia, Abnormal heart morphology	ORPHA:96182
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Mildly elevated creatine kinase	OMIM:620351
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad...	ORPHA:95699
Monosomy 9Q22.3	Hyperactivity, Hydrocephalus, Ovarian fibroma, Ventriculomegaly	ORPHA:77301
Costello Syndrome	Ventricular septal defect, Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Pneumotho...	OMIM:218040
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Hyperphosphatemia, Hypogonadism	OMIM:101800
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Hepatomegaly, Renal insufficiency, Splenom...	ORPHA:1454
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis, Ventr...	OMIM:616546
Dextrocardia	Abnormal reproductive system morphology, Hydrocephalus, Abnormality of the ureter	ORPHA:1666
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Hydrocephalus, Horseshoe kidney, ...	OMIM:227646
Tuberous Sclerosis Complex	Hyperactivity, Renal insufficiency, Impulsivity, Aggressive behavior, Repetitive compulsive behav...	ORPHA:805
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:1865
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Splenomegaly, Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Ambi...	OMIM:269860
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Cryptorchidism, Hydrocephalus, Renal...	OMIM:261540
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm	ORPHA:65285
Alexander Disease	Precocious puberty, Aqueductal stenosis, Hydrocephalus, Self-injurious behavior, Dysphagia	ORPHA:58
Dubowitz Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormality...	ORPHA:235
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele, Neurogenic bladder	OMIM:130720
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Cryptorc...	ORPHA:564
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan...	OMIM:619991
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Pentalogy Of Cantrell	Encephalocele, Anencephaly, Hydrocephalus, Hypospadias	ORPHA:1335
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly...	ORPHA:2166
Acute Adrenal Insufficiency	Recurrent acute respiratory tract infection, Hypoglycemia	ORPHA:95409
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Hurler Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Dermatan sulfate e...	OMIM:607014
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Sturge-Weber Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:3205
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Cousin Syndrome	Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydranencephaly, Hydroneph...	OMIM:260660
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Hepatosplenomegaly, Nephrotic syn...	ORPHA:505248
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Ovarian cyst, Enlarged ...	OMIM:618188
Rabin-Pappas Syndrome	Hyponatremia, Hydrocephalus	OMIM:620155
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Macroglossia, Umbilical hernia, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:226307
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Ovarian neoplasm	ORPHA:87
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Occipital meningo...	ORPHA:268810
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Epispadias, Hy...	ORPHA:2461
Fraser Syndrome 3	Ureteral agenesis, Hypoplasia of penis, Small scrotum, Hydrocephalus	OMIM:617667
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Unilateral renal agenesis	ORPHA:1064
Sheehan Syndrome	Hypoglycemia	ORPHA:91355
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder, Impulsivity	ORPHA:589905
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly	OMIM:231005
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Dermatan sulfate e...	OMIM:253220
Opitz-Kaveggia Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder	OMIM:305450
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl...	OMIM:147791
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Tongue thrusting, Hydronephrosis	OMIM:115150
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Pica,...	OMIM:614527
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly, Polycystic kidney dysplasia, Aplasia of the uterus, A...	OMIM:619879
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Hypocalcemic seizures	OMIM:612301
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula...	ORPHA:90062
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Neurooculorenal Syndrome	Unilateral renal agenesis, Conjugated hyperbilirubinemia, Cryptorchidism, Hydrocephalus, Aqueduct...	OMIM:620305
Otopalatodigital Syndrome Type 2	Encephalocele, Hypospadias, Myelomeningocele, Hydrocephalus, Hydronephrosis, Ureteral obstruction	ORPHA:90652
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Mend Syndrome	Hyperactivity, Cryptorchidism, Hydrocephalus, Crossed fused renal ectopia, Dandy-Walker malformation	OMIM:300960
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Apert Syndrome	Cryptorchidism, Hydrocephalus, Vaginal atresia, Hydronephrosis, Ventriculomegaly	OMIM:101200
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal repetitive mannerisms	ORPHA:300570
Coccidioidomycosis	Abnormal sperm morphology, Renal insufficiency, CSF pleocytosis, Hydrocephalus, CSF lymphocytic p...	ORPHA:228123
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Achondroplasia	Hydrocephalus	ORPHA:15
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac...	OMIM:600145
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydrone...	ORPHA:163979
15Q Overgrowth Syndrome	Ureterovesical stenosis, Hydrocephalus, Horseshoe kidney, Hydronephrosis, Dandy-Walker malformation	ORPHA:314585
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus, Hypospadias	OMIM:313850
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Ventriculomegaly	OMIM:613603
Monosomy 18Q	Bilateral cryptorchidism, Micropenis, Hydrocephalus	ORPHA:1600
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus...	ORPHA:363958
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Spina bifida, Abnormal preputium morphology, Crypt...	ORPHA:84
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Hydronephrosis	OMIM:104350
Thakker-Donnai Syndrome	Communicating hydrocephalus, Rectovaginal fistula, Hydronephrosis	ORPHA:1780
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia	ORPHA:90791
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Pulmonary fibrosis, Glycosuria	ORPHA:3337
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
22Q11.2 Deletion Syndrome	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Splenomegaly, Renal hypopl...	ORPHA:567
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Urethral atresia, Vag...	OMIM:273395
Kabuki Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Precocious puberty, Cryptorchidism...	ORPHA:2322
Craniopharyngioma	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Polyphagia	ORPHA:54595
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven...	OMIM:605627
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Left ventricular hypertrophy, Hydrocephalus, Cardiomegaly	OMIM:245600
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Hydronephrosis	ORPHA:1340
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased testicu...	OMIM:619321
Lymphangioleiomyomatosis	Abnormal urinary color, Hydrocephalus, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Abn...	ORPHA:538
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Raine Syndrome	Hydrocephalus, Hydroureter, Hydronephrosis, Hypophosphatemia	OMIM:259775
Deeah Syndrome	Hepatomegaly, Neonatal hypoglycemia, Exocrine pancreatic insufficiency	OMIM:619004
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Jaundice, Neonatal hypoglycemia	OMIM:617248
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Hurler Syndrome	Splenomegaly, Hepatomegaly, Hydrocephalus, Mucopolysacchariduria	ORPHA:93473
Basal Cell Nevus Syndrome 1	Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida	OMIM:109400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Hypoglycorrhachia, Communicating hydrocephalus, Hepatosplenomegaly	ORPHA:168577
Addison Disease	Type I diabetes mellitus, Hypoglycemia	ORPHA:85138
Mucopolysaccharidosis Type 1	Splenomegaly, Hydrocephalus, Mucopolysacchariduria	ORPHA:579
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Pericarditis, Hypoglycemia, Jaundice, Pancreatitis	ORPHA:99826
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Nephrocalcinosis, Aminoaciduria, Splenomegaly	OMIM:616084
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	OMIM:182212
Stromme Syndrome	Hydrocephalus, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Fraser Syndrome 1	Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Renal hypoplasia, Bi...	OMIM:219000
Orofaciodigital Syndrome I	Proteinuria, Myelomeningocele, Hydrocephalus, Ovarian cyst, Polycystic kidney dysplasia	OMIM:311200
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ...	ORPHA:2658
Aymé-Gripp Syndrome	Cryptorchidism, Hydrocephalus, Proteinuria, Ventriculomegaly	ORPHA:1272
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab...	ORPHA:2556
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Splen...	ORPHA:580
Generalized Glucocorticoid Resistance Syndrome	Hypoglycemia	ORPHA:786
Knobloch Syndrome	Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter	ORPHA:1571
Trisomy 8P	Cryptorchidism, Hydrocephalus, Nephrocalcinosis, Micropenis, Hydronephrosis, Dandy-Walker malform...	ORPHA:264450
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Unilateral renal agenesis	OMIM:154400
Gaucher Disease	Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentration, Splenomegaly, H...	ORPHA:355
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder	ORPHA:261337
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Splenomegaly, Hydrocephalus, Dermatan sulfate excretion in urine, Cervical myelopathy	OMIM:253200
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:602535
Achondroplasia	Hydrocephalus	OMIM:100800
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Isotretinoin-Like Syndrome	Hydrocephalus, Hypocalcemia	ORPHA:2306
Hajdu-Cheney Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Polycystic kidney dysplasia	OMIM:102500
Tetrasomy 9P	Hyperactivity, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Oligozoospermia, Inappropriate be...	ORPHA:3310
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Mohr Syndrome	Hydrocephalus	OMIM:252100
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ectopic kidney	ORPHA:268249
Townes-Brocks Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie...	OMIM:107480
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta, Multicystic kidney dysplasia	OMIM:300373
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Splenomegaly, Hydrocephalus, Multiple renal cysts	ORPHA:955
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Medulloblastoma	Hydrocephalus	ORPHA:616
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Cardiomegaly, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Horseshoe kidne...	OMIM:306955
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Azoospermia, Abnormal temper tantrums, Ventricul...	ORPHA:2072
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Facial hypotonia, Neonatal hypoglycemia	ORPHA:457359
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly	ORPHA:2462
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:91350
Wolf-Hirschhorn Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Abnormal r...	OMIM:194190
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Hydrocephalus, Hypocalcemia, Hypophosphatemia	ORPHA:667
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Crossed fused renal ectopia, Hypospadias, Aggressive behavior, Crypt...	OMIM:619841
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Normal pressure hyd...	OMIM:216400
Holoprosencephaly 9	Cryptorchidism, Micropenis, Hydrocephalus, Holoprosencephaly	OMIM:610829
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Hypospadias, Aggressive behavior, Ectopic kidney, Cryptorchidism, Hy...	OMIM:607872
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal, Hydronephrosis	OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hydrocephalus, Renal hypoplasia, Renal cyst, Lateral ventricle dilatation, Colpoc...	OMIM:210710
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida	OMIM:162200
Holoprosencephaly 1	Hypoglycemia, Single ventricle	OMIM:236100
Cryptococcosis	Hydrocephalus, Prostatitis	ORPHA:1546
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Dysphagia	ORPHA:637
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Meningocele, Aplasia of the uterus	ORPHA:2879
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Neurogenic bladder	ORPHA:137667
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Pericard...	ORPHA:79318
Yunis-Varon Syndrome	Hypospadias, Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular hypertension, Hypoplastic ...	ORPHA:3472
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Anencephaly, Severe hydrocephalus, Abnormal vagina morphology, Hydrone...	OMIM:236680
Osteogenesis Imperfecta	Hydrocephalus, Nephrolithiasis, Noncommunicating hydrocephalus, Hypercalciuria, Dysphagia, Ventri...	ORPHA:666
Neurofibromatosis Type 1	Precocious puberty, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder	ORPHA:636
Focal Dermal Hypoplasia	Ureteral duplication, Cryptorchidism, Hydrocephalus, Myelomeningocele, Horseshoe kidney, Bifid ur...	OMIM:305600
Pseudoaminopterin Syndrome	Cryptorchidism, Hydrocephalus, Horseshoe kidney	ORPHA:221120
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Horseshoe kidney	ORPHA:1106
Fontaine Progeroid Syndrome	Small scrotum, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Left ventricular hypertro...	OMIM:612289
Sotos Syndrome	Hip contracture, Inguinal hernia, Ventricular septal defect, Ankle flexion contracture, Neonatal ...	ORPHA:821
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:220386
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Normal pressure hyd...	OMIM:133540
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Dysphagia, Dandy-Wa...	OMIM:264090
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulati...	OMIM:619534
Meningioma	Hydrocephalus, Hypogonadotropic hypogonadism, Urinary incontinence	ORPHA:2495
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Crossed fused renal ectopia, Premature thelarche, Cryptorchid...	OMIM:147920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly	OMIM:253280
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309282
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Aplasia of the uterus,...	OMIM:618280
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Hydronephrosis, Attention deficit hyperactivity disorder	ORPHA:363700
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc...	OMIM:268300
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, ...	ORPHA:3455
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Rectovaginal fistula, Perineal fistula	OMIM:218600
Coffin-Siris Syndrome 12	Hypospadias, Cryptorchidism, Noncommunicating hydrocephalus, Horseshoe kidney, Abnormal repetitiv...	OMIM:619325
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypogonadism	ORPHA:3042
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Splenomegaly, Renal cyst, Duplication o...	OMIM:312870
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Hydrocephalus	OMIM:208150
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Hydronephrosis	OMIM:304120
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:175780
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Ectopic kidney, Hydrocephalus, Vesicourete...	OMIM:164210

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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MicroCT E14.5-E15.5

Eye Morphology

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X-ray

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Human diseases caused by Phip mutations

Histopathology

IMPC related publications

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