Gene Summary

Name:
pleckstrin homology domain interacting protein
Synonyms:
4632404O06Rik,  2810004D21Rik,  Wdr11,  Ndrp

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
enlarged urinary bladder Phipem1(IMPC)Tcp HET Early adult 0.00
increased leukocyte cell number Phipem1(IMPC)Wtsi HET Early adult 3.22×10-05
decreased circulating chloride level Phipem1(IMPC)Wtsi HET   Early adult 6.47×10-06
abnormal embryo size Phipem1(IMPC)Tcp HOM E15.5 0.00
abnormal cranium morphology Phipem1(IMPC)Tcp HET   Early adult 2.42×10-06
hyperactivity Phipem1(IMPC)Tcp HET   Early adult 9.97×10-06
hydrocephaly Phipem1(IMPC)Tcp HET Early adult 0.00
increased circulating aspartate transaminase level Phipem1(IMPC)Tcp HET Early adult 1.15×10-05
decreased body length Phipem1(IMPC)Wtsi HET Early adult 3.03×10-10
small uterus Phipem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Phipem1(IMPC)Tcp HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Eye Morphology

Images Ophthalmoscopy

94 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Histopathology

Images

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Hypoglycemia OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis OMIM:619398
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Attention deficit hyperactivity disorder, Motor stereotypy, Hydrocephalus OMIM:618709
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased he... OMIM:232700
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia ORPHA:366
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Schizophrenia 15
Hyperactivity OMIM:613950
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Distal lower limb muscle weakness, Proximal muscle weakness in lower limbs, Fatty replacement of ... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... ORPHA:324575
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis,... OMIM:231100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
1Q21.1 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Hypospadias, Cryptorchidism ORPHA:250994
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circul... OMIM:266100
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Hypoglycemia ORPHA:35
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Hypoglycemia, Lower limb ... OMIM:300559
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia ORPHA:2022
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:246900
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Cryptorchidism, Frontal encephalocele ORPHA:261102
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... ORPHA:276556
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancr... ORPHA:3032
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function, Hypoglycemia ORPHA:67048
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Cardiomyopathy, Hepatic steatosis, Myopathy ORPHA:26792
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Ventriculomegaly, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus, Self-mutilation OMIM:300884
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... OMIM:619386
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Atrial septal defect, Hypoglycemia OMIM:620211
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... OMIM:212140
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Abnormal heart morphology, Hypoglycemia ORPHA:231147
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:617872
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... OMIM:231530
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:617950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Diastasis recti, Hypoglycemia ORPHA:231140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Pancreatitis, Hypoglycemia OMIM:620137
Fried Syndrome
Aggressive behavior, Hydrocephalus ORPHA:85335
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus ORPHA:141333
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Increased le... OMIM:271980
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... ORPHA:42
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypoglycemia, Acute hepa... OMIM:616483
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Elevated circulating hepatic transaminase concentration, Decreased liver fu... OMIM:615160
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Rhabdomyolysis, Hypoglycemia, Dilated cardiomyopathy OMIM:618120
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney OMIM:601076
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypoglycemia OMIM:306000
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... OMIM:241200
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyo... ORPHA:2394
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... ORPHA:5
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly, Pericardial effusion OMIM:614702
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:300438
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Finger joint contracture, Hypoglycemia, Flexion contracture of toe ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia OMIM:618958
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hypoglycemia ORPHA:364
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic junction obstruc... OMIM:154230
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Mehmo Syndrome
Hypoglycemia OMIM:300148
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Attention deficit hyperactivity disorder, Vaginal atresia, H... OMIM:617914
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Decreased muscle mass ORPHA:631
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Kleeblattschaedel
Hydrocephalus OMIM:148800
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ple... OMIM:617049
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus OMIM:619151
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hydrocephalus, Hyperactivity, Restlessness, Agitation OMIM:300558
Timothy Syndrome
Pneumonia, Bronchitis, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septa... OMIM:601005
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, C... OMIM:212138
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Elevated CSF saccharopine concentration, Increased CSF lysine c... OMIM:238700
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
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 circulating hepatic transaminase concentration, Hypoglycemia ORPHA:289504
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity,... ORPHA:8
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Ventriculomegaly, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuri... OMIM:618314
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Skeletal muscle atrophy, Cholestasis, Hyperglycemia... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased liver function, Hypoglycemia, Neonatal death OMIM:618839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased liver function, Hypoglycemia, Neonatal death OMIM:618835
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... OMIM:611126
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hepatosplenomegaly, Splenomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus, ... OMIM:610333
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatom... OMIM:231680
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia OMIM:248360
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Neoplasia of the pleura, Abnormal pe... ORPHA:2126
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:264580
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria, Ventriculomegaly, Increased CSF lactate, Elevated circulating 2-trans,4-cis-decad... OMIM:616034
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Exercise-induced rhabd... OMIM:201475
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Elevated circulating asparta... OMIM:620609
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Mitochondrial Trifunctional Protein Deficiency 2
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati... OMIM:620300
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention defici... OMIM:620141
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran... ORPHA:2088
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hypoglycemia, Recurrent hypogly... OMIM:256810
Immunodeficiency 10
Recurrent pneumonia, Hypoglycemia, Splenomegaly, Myopathy, Amelogenesis imperfecta, Hepatomegaly OMIM:612783
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:79240
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... ORPHA:97279
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Urinary incontinence, Spina bifida occulta, Anencephaly OMIM:182940
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia OMIM:201400
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism OMIM:618577
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbili... OMIM:269920
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated circulating hepatic transaminase conce... ORPHA:2089
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio... OMIM:614921
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Ventriculomegaly, Cryptorchidism, Hydronephrosis, Attention deficit hy... OMIM:609757
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Fasting hyperins... ORPHA:71212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Elevated circulating creatine kinase concentration, Left ventricular hypertroph... OMIM:613153
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatomeg... ORPHA:79239
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:26791
Congenital Toxoplasmosis
Hepatomegaly, Ventriculomegaly, Cardiomegaly, Hydrocephalus ORPHA:858
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf... OMIM:619418
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Propionic Acidemia
Cardiomyopathy, Hypoglycemia, Pancreatitis, Limb hypertonia, Hepatomegaly OMIM:606054
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Limb hypertonia, Joint contracture ORPHA:35708
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Hepatosplenomegaly, Hypoglycemia ORPHA:79237
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Prolonged neonatal jaundice, Neonatal hypoglycemia, Hepatitis ORPHA:199296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:613155
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Hypoglycemia, Elbow contracture, Umbilical hernia, Inguinal hernia OMIM:620275
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:605911
Temple Syndrome
Precocious puberty, Polyphagia, Cryptorchidism, Hydrocephalus ORPHA:254516
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Cardiomyopathy, Hypoglycemia, Limb hypertonia, Generalized amyotrophy OMIM:617710
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus, Disinhibition ORPHA:2770
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:79644
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoglycemia, El... OMIM:608836
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Hypogonadism, Obsessive-comp... ORPHA:500055
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Meckel Syndrome 12
Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral hypoplasia OMIM:616258
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Hypoglycemia, Aspiration pneumonia OMIM:618253
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins... ORPHA:456312
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Elevated circulating creatine kinase concentration ORPHA:588
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Recu... ORPHA:94086
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus OMIM:615300
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatomegaly, ... OMIM:616026
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis, Hydrocephalus OMIM:248000
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia ORPHA:95428
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Hypoplasminogenemia
Abnormality of the ovary, Nephrolithiasis, Decreased level of plasminogen, Abnormal fallopian tub... ORPHA:722
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly, Cardiomyopathy OMIM:619046
Houge-Janssens Syndrome 1
Facial hypotonia, Hypoglycemia, Congenital muscular torticollis OMIM:616355
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Lateral ventricle dilatation, Horseshoe kidney, Hydrocephalus, Ureteral duplica... OMIM:602200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Dorsocervical fat pad, Diabetes mellitus, Hypoglycemia ORPHA:391408
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Immunodeficiency, Common Variable, 10
Hypoglycemia, Recurrent pneumonia, Recurrent viral upper respiratory tract infections, Recurrent ... OMIM:615577
B4Galt1-Cdg
Splenomegaly, Elevated circulating creatine kinase concentration, Decreased LDL cholesterol conce... ORPHA:79332
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Horseshoe kidney, Cryptorchidism, Hydrocephalus, Hypospadias OMIM:218350
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Decreased liver function, Elevated circ... OMIM:617093
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Cryptorchidism, Hydrocephalus, Micropenis, Hypospadias ORPHA:171839
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia ORPHA:391428
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Type II diabetes mellitus, Proximal muscle weakness in lower limbs, Hypoglycemia ORPHA:453533
Alexander Disease Type I
Dysphagia, Hydrocephalus ORPHA:363717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615181
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydronephros... ORPHA:1926
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cardiomyopathy, Pancreatitis, Hypoglycemia OMIM:251000
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Smith-Kingsmore Syndrome
Diastasis recti, Hypoglycemia, Umbilical hernia OMIM:616638
Temple Syndrome
Precocious puberty, Decreased testicular size, Cryptorchidism, Hypercholesterolemia, Hydrocephalu... OMIM:616222
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Acute hepatic fa... ORPHA:99901
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcut... OMIM:609069
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypoket... ORPHA:159
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Hydrocephalus ORPHA:99947
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cholestasis, Ele... OMIM:609015
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Insulin-Resistance Syndrome Type B
Pneumonia, Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin... ORPHA:2298
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Glucocorticoid Deficiency 2
Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypok... ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy... OMIM:615453
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Ragged-red muscle fibers, Facial palsy OMIM:606407
Laron Syndrome
Hypoglycemia ORPHA:633
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Nephronophthisis 18
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Hydrocephalus OMIM:615862
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Hypoketotic hypoglycemia, Rhabdomyolysis... ORPHA:746
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recur... OMIM:124000
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Colpocephaly, Hydrocephalus, Micropenis, Hypoplasia of ... OMIM:309801
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Dysphagia, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect, Hypoglycemia OMIM:608688
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased muscle mass, Pan... OMIM:232200
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:618329
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Pneum... ORPHA:445038
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent... ORPHA:17
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Hypoglycemia, Decreased liver function, E... OMIM:608779
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Normal pressure hydrocephalus OMIM:236690
Triploidy
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hepatomegaly, Hypoplasia of peni... ORPHA:3376
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Hypospadias, Cryptorchidism OMIM:175700
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Contrac... ORPHA:457279
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Ventriculomegaly, Dicarboxylic... ORPHA:228308
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Hypoglycemia, Prolonged neonatal jaundice, Hepatome... OMIM:233600
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Occipital encephalocele, Hydrocephalus, Hepatomegaly, Dandy-Walker ... OMIM:607361
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Spina bifida occulta, Hyp... OMIM:119500
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Bresek Syndrome
Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydrocephalus ORPHA:85284
Coach Syndrome 2
Elevated circulating creatinine concentration, Hydrocephalus OMIM:619111
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Dysphagia OMIM:207950
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Elevated circulating hepatic transaminase concentration, Left ventricular hypert... OMIM:619355
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Ventriculomegaly, Nephronophthisis, Splenomegaly, Hydrocephalus, Hepatome... OMIM:615630
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Tenorio Syndrome
Hypoinsulinemia, Recurrent pneumonia, Macroglossia, Hypoglycemia OMIM:616260
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Pallister-Hall-Like Syndrome
Micropenis, Occipital encephalocele, Hydrocephalus OMIM:241800
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Plasminogen Deficiency, Type I
Nephritis, Ventriculomegaly, Nephrolithiasis, Decreased level of plasminogen, Hydrocephalus, Dand... OMIM:217090
Lumbar Syndrome
Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora,... ORPHA:83628
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Ketotic hypoglycemia, Cholelithiasis OMIM:620646
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Cryptorchidism ORPHA:2701
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Dilated cardiomy... ORPHA:66634
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Basilicata-Akhtar Syndrome
Camptodactyly, Neonatal hypoglycemia OMIM:301032
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Ventriculomegaly, Proximal tubulopathy, Splenomegaly, Elevated circula... OMIM:614576
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Recurrent lower respiratory tract infections, Atrial septal defect, Joint contracture OMIM:618005
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypoglycemia, Patent foramen o... OMIM:607143
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Elevated circulating creatin... ORPHA:370959
Shashi-Pena Syndrome
Limb hypertonia, Atrial septal defect, Hypoglycemia OMIM:617190
Pettigrew Syndrome
Self-injurious behavior, Ventriculomegaly, Stereotypical hand wringing, Aggressive behavior, Hydr... OMIM:304340
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Hypoglycemia ORPHA:397590
Isolated Complex I Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Diabetes mellitus, Abnormal mitochondria... ORPHA:2609
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic... OMIM:601186
Meckel Syndrome, Type 4
Encephalocele, Renal cyst, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Renal hypoplasia, Hydrocephalus OMIM:276950
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Aggressive behavior, Colpocephaly, Hydrocephalus OMIM:619833
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Elevated circulating aspartate ... OMIM:227810
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dilated cardiomyopathy, Hypoglycemia OMIM:251110
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Hydrocephalus, Splenomegaly ORPHA:163596
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypoglycemic seizures, Acu... ORPHA:480864
Intellectual Developmental Disorder, Autosomal Dominant 65
Compulsive behaviors, Aggressive behavior, Attention deficit hyperactivity disorder, Noncommunica... OMIM:619320
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Oeis Complex
Hydroureter, Vesicovaginal fistula, Myelomeningocele, Ambiguous genitalia, female, Absent scrotum... OMIM:258040
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Ventriculomegaly, Cryptorchidism, Hydronephrosis, Am... ORPHA:261344
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Neoplasm of the lung ORPHA:1332
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Addictive alcohol use, Left ventricular hypertrophy, Hypercholesterolemia,... ORPHA:90065
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Ventriculomegaly, Hydrocephalus OMIM:616362
Shigellosis
Pneumonia, Hepatic failure, Hypoglycemia, Cholestasis, Rhabdomyolysis, Peritonitis, Splenic absce... ORPHA:810
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal... ORPHA:2075
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cholestas... OMIM:617156
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrophic cardiomyopath... OMIM:616878
Hydrolethalus
Hydrocephalus, Abnormal fallopian tube morphology, Cryptorchidism, Anencephaly ORPHA:2189
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hyperbilirubinemia, Renal tubular dysfunction, Hydrocephalus, ... OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Pulmonic stenosis OMIM:617600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias ORPHA:77298
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Griscelli Syndrome
Abnormal circulating lipid concentration, Encephalocele, Splenomegaly, Hydrocephalus, Hepatomegaly ORPHA:381
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Elevated circulating cre... OMIM:613154
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hep... OMIM:276700
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
X-Linked Dominant Chondrodysplasia Punctata
Abnormal lung morphology, Flexion contracture, Scarring alopecia of scalp, Neonatal hypoglycemia ORPHA:35173
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal circulating creatine kinase concentration, Cryptorchidism, Hydrocephal... ORPHA:899
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Neonatal hypoglycemia, Flexion contracture, Hepatic steatosis OMIM:616271
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, ... ORPHA:459061
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Ventriculomegaly, Hypogonadism, Cryptorchidism, Hydr... ORPHA:96170
Hemangioblastoma
Neurogenic bladder, Hydrocephalus ORPHA:252054
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Pleural eff... OMIM:261740
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Hydronephrosis, Rena... ORPHA:1834
Mirage Syndrome
Microphallus, Decreased testicular size, Cryptorchidism, Hyponatremia, Hydrocephalus, Shawl scrot... OMIM:617053
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia, Neonatal death OMIM:619055
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ... OMIM:241080
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Hemolytic-uremic syndrome ORPHA:2169
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:246450
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Recurrent hypogl... ORPHA:20
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Mic... OMIM:609029
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Reni Syndrome
Hypoglycemia OMIM:617575
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:613658
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Congenital Syphilis
Pneumonia, Hypoglycemia, Hepatosplenomegaly, Pancreatitis, Myocarditis, Prolonged neonatal jaundice