Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
apolipoprotein B
Synonyms:
apob-100,  apob-48

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Apob 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 Apob by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration OMIM:615558

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 4
Azoospermia OMIM:270960
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Hypoch... ORPHA:71
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Hydrocephalus, Ventriculomegaly, Dandy-Walker... OMIM:613154
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin co... OMIM:616828
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hep... OMIM:615980
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Young Syndrome
Azoospermia OMIM:279000
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Splenome... ORPHA:567983
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Hyperbilirubinemia,... OMIM:614300
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Pancreatitis ORPHA:435651
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Kleeblattschaedel
Hydrocephalus OMIM:148800
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating acylcarnitine concentration ORPHA:26792
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Increased circulatin... OMIM:618156
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:617872
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Hypertrig... ORPHA:412
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... OMIM:604367
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Temple Syndrome
Hydrocephalus, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp... OMIM:618805
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencephaly, Syntelencephaly, Hydroce... OMIM:609637
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentrati... ORPHA:435660
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Conjugated hyperbilirubinemia, Abnormal serum bi... ORPHA:79303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hyperga... ORPHA:247598
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... ORPHA:370
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepat... OMIM:251880
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatic steatosis, Hyperlipidemia, Recurrent pan... ORPHA:444490
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia OMIM:615381
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Decreased plasma carnitine, Hepatomegaly, Decreased carnitine level in liver, ... OMIM:212140
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Hypop... OMIM:614837
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus ORPHA:324416
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:617281
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Hypercholesterolemia, Hepatomegaly, Hypertriglyceri... ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Ventriculomegaly, Elevated circulating creatine kinase conc... OMIM:615287
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:600649
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypocholesterole... OMIM:212065
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... ORPHA:264580
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Decreased testicular size, Premature ovarian insufficiency, Hypo... OMIM:612885
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Ventriculomegaly, Dandy-Walker malformation, ... OMIM:613153
Fried Syndrome
Hydrocephalus ORPHA:85335
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Oligospermia, Precocious puberty OMIM:300200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Decreased plasma carnitine, Hepatocellular necrosis, Hepa... OMIM:201475
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Abetalipoproteinemia
Hepatic steatosis, Hypotriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hy... ORPHA:14
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased plasma total carnitine, Decreased liver function, Hepatomegaly, Elev... ORPHA:42
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Functioning Gonadotropic Adenoma
Infertility, Decreased female libido, Amenorrhea, Ovarian cyst, Enlarged polycystic ovaries, Olig... ORPHA:91348
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hyperuricemia, Hypertriglyceridemia, Pancreatitis,... ORPHA:79083
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Hydrocephalus ORPHA:2185
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreatitis ORPHA:2348
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Pettigrew Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:304340
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Hypocholesterolemia, Elevated circulating creatine kinase concentration, De... ORPHA:96180
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Prolonged neonatal jaundic... OMIM:256810
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatin... ORPHA:71212
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Abnormal ci... ORPHA:98907
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus OMIM:225790
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Abnormal circulating lipid concentration, Hepatomegaly, Hy... ORPHA:79086
Coach Syndrome 2
Elevated circulating creatinine concentration, Hydrocephalus OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Hydrocephalus OMIM:615181
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Hepati... ORPHA:905
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Hepatic steatosis, Low plasma citrulline, Hepatomegaly OMIM:261680
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Achondroplasia
Hydrocephalus OMIM:100800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, ... OMIM:151660
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hydrocephalus OMIM:269920
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Hyperlipidemia, Elevated ci... ORPHA:228308
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypercholesterolemia ORPHA:90065
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic tran... ORPHA:2137
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, ... ORPHA:99901
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Cir... ORPHA:90363
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Hyperuricemia, Elevated hepatic transaminase, Hypertriglyceridem... OMIM:203800
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Hydrocephalus ORPHA:1516
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration... OMIM:613327
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus OMIM:307000
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea ORPHA:91351
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:212138
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Jaundice, Hepatic periportal necrosis, Elevated circulating glut... OMIM:231680
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Decreased serum zinc, Hepatosplenomegaly, Cholestasis, Elevat... ORPHA:541423
Meckel Syndrome, Type 4
Anencephaly, Dandy-Walker malformation, Hydrocephalus, Meningocele, Encephalocele OMIM:611134
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
B4Galt1-Cdg
Elevated circulating creatine kinase concentration, Hydrocephalus, Dandy-Walker malformation, Dec... ORPHA:79332
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Cervical myelopathy, Hydrocephalus OMIM:207950
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Paradoxical increased cortisol secretion on dexamethasone supp... ORPHA:189427
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Central Precocious Puberty
Hydrocephalus ORPHA:759
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated circulating creatine kinase concent... ORPHA:79322
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure OMIM:231530
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi... OMIM:617253
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus ORPHA:380
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Splenomegaly, Elevated circulating sitosterol con... OMIM:210250
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic hepatitis... OMIM:614921
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia ORPHA:254346
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Spinal dysraphism, Hydrocephalus, Holoprosencephaly, Meningocele, Encephalocele ORPHA:1908
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Ventriculomegaly OMIM:244450
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Ventriculomegaly, Hypoalbuminemia ORPHA:79324
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:163961
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Hyperuricemia, Elevated hepatic transaminase, Neonatal hyperbili... ORPHA:348
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Encephalocele, Hydrocephalus ORPHA:93274
Griscelli Syndrome
Abnormal circulating lipid concentration, Encephalocele, Hydrocephalus ORPHA:381
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Meckel Syndrome, Type 3
Occipital encephalocele, Dandy-Walker malformation, Hydrocephalus OMIM:607361
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98863
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Nephronophthisis 18
Hydrocephalus OMIM:615862
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98853
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia OMIM:210200
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating alanine aminotransferase concentration, Decreased plasma total carnitine, El... OMIM:608836
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Elevated circulating creatin... ORPHA:370959
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligospermia, Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia,... ORPHA:786
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hyponatremia, Hepatosplenomegaly, Hepatic fibr... ORPHA:275761
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ventriculomegaly, Hydrocephalus OMIM:618476
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hyperalaninemia ORPHA:298
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Paradoxical increased cortisol secretion on dexamethasone supp... ORPHA:189439
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hepatic steatosis, Hypermethioninemia, Pancreatitis OMIM:236200
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Decreased HDL ... ORPHA:280365
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Elevated hepatic transamina... ORPHA:98908
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Ventriculomegaly, Hydrocephalus OMIM:616538
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Hydrocephalus OMIM:614886
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Ele... OMIM:619487
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Ventriculomegaly, Hydrocephalus OMIM:175700
Albers-Schönberg Osteopetrosis
Hypocalcemia, Hydrocephalus ORPHA:53
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Hydrocephalus OMIM:615249
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:79240
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea OMIM:616263
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepa... ORPHA:79259
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Gapo Syndrome
Oligospermia, Hypogonadism, Amenorrhea, Dysmenorrhea ORPHA:2067
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:300960
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase,... OMIM:608594
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, True hermaphroditism, Sex reversal, Bicornuate uterus, Hypospadias, Clito... OMIM:400045
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Joubert Syndrome 14
Dandy-Walker malformation, Encephalocele, Hydrocephalus OMIM:614424
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Visceral Steatosis, Congenital
Jaundice, Hypocalcemia, Neonatal death, Hepatic steatosis OMIM:228100
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase,... OMIM:269700
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Ventriculomegaly, Hydrocephalus OMIM:614576
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Hydrocephalus ORPHA:171839
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Ventriculomegaly, Hydrocephalus ORPHA:2169
Temple Syndrome
Hydrocephalus ORPHA:254516
Arachnoiditis
Hydrocephalus ORPHA:137817
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Hemangioblastoma
Hydrocephalus ORPHA:252054
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Dandy-Walker malformation, Hydrocephalus, Hypocholesterolemia, Hol... OMIM:270400
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Fructose Intolerance, Hereditary
Hepatic steatosis, Bicarbonaturia, Hyperuricosuria, Hepatomegaly, Jaundice, Hyperuricemia, Hyperb... OMIM:229600
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia ORPHA:91
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Intellectual Developmental Disorder, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Cole-Carpenter Syndrome 1