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Gene: Arl5c MGI:3028577

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Gene Summary

Name:
ADP-ribosylation factor-like 5C
Synonyms:
Arl12

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Arl5ctm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal brain morphology Arl5ctm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Arl5ctm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased circulating calcium level Arl5ctm1.1(KOMP)Vlcg HOM Early adult 2.12×10-06
decreased circulating creatinine level Arl5ctm1.1(KOMP)Vlcg HOM Early adult 3.44×10-05
enlarged heart Arl5ctm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased circulating serum albumin level Arl5ctm1.1(KOMP)Vlcg HOM Early adult 2.72×10-06
decreased circulating total protein level Arl5ctm1.1(KOMP)Vlcg HOM Early adult 3.25×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone marrow  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

19 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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Human diseases caused by Arl5c 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arl5c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation OMIM:607091
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Diarrhea 13
Hypoalbuminemia OMIM:620357
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Hypocalcemia ORPHA:172
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Hypocalcemia ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Increased CSF protein concentration, Hypertriglyceridemia, Increased ... OMIM:603553
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Edinburgh Malformation Syndrome
Hydrocephalus, Neonatal hyperbilirubinemia OMIM:129850
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Primary Intestinal Lymphangiectasia
Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... ORPHA:247585
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia, Ventriculom... OMIM:235255
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve, Decreased serum creatinine, Hypohomocysteinemia, Hyp... OMIM:617744
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoprot... ORPHA:1655
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Adamantinoma
Hypercalcemia ORPHA:55881
Dengue Fever
Hepatomegaly, Hypoproteinemia ORPHA:99828
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating... OMIM:616050
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocardia ORPHA:2315
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Dilated cardiomyo... OMIM:615895
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Perimembranous ventricular septal de... OMIM:608104
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Immunodeficiency 27A
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly OMIM:209950
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Enterovirus Infection
Pericardial effusion, Myocarditis, Hyperammonemia, CSF lymphocytic pleiocytosis, Cardiomyopathy, ... ORPHA:292
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Albers-Schönberg Osteopetrosis
Hydrocephalus, Hypocalcemia ORPHA:53
Omenn Syndrome
Splenomegaly, Hepatomegaly, Hypoproteinemia OMIM:603554
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Increased CSF lactate, Hyperalaninemia, Hy... OMIM:619051
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Choroid plexus calcification, Hyperphosphatemia, Hypocalcemia OMIM:612462
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ... ORPHA:2306
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... ORPHA:247598
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Hypocalcemia, P... ORPHA:3426
Leishmaniasis
Splenomegaly, Hepatomegaly, Hypoalbuminemia ORPHA:507
Immunodeficiency 32B
Splenomegaly, Hepatomegaly, Hypoalbuminemia OMIM:226990
Intermediate Osteopetrosis
Hypocalcemia, Hepatosplenomegaly ORPHA:210110
Mpi-Cdg
Hepatomegaly, Hypoalbuminemia ORPHA:79319
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de... ORPHA:1667
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypo... ORPHA:367
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... OMIM:618183
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hepatomegaly, Hydrocephalus, Hypocalcemia OMIM:259700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Overriding aorta, Hypoalbuminemia OMIM:617021
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus OMIM:269920
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Ventriculomegaly, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Colchicine Poisoning
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... ORPHA:31824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:613155
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly OMIM:300886
Gracile Bone Dysplasia
Hydrocephalus, Hypocalcemia OMIM:602361
Coach Syndrome 2
Hydrocephalus, Elevated circulating creatinine concentration OMIM:619111
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration OMIM:616733
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, C... ORPHA:540
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Liver Failure, Infantile, Transient
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Hypocalcemia, Dandy-Walker malformation OMIM:618476
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr... ORPHA:167
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morpholog... ORPHA:85443
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Left ventric... OMIM:613153
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia OMIM:602579
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia, Hepatomegaly OMIM:618440
Liver Disease, Severe Congenital
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... OMIM:619991
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia ORPHA:2123
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... ORPHA:36234
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Lateral ventricle dilatatio... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly OMIM:619064
Congenital Toxoplasmosis
Hepatomegaly, Hydrocephalus, Ventriculomegaly, Cardiomegaly ORPHA:858
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami... OMIM:251880
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology ORPHA:67
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Ventriculomegaly ORPHA:2323
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hepatoportal Sclerosis
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, ... OMIM:259720
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Cardiomyopathy, Hypocalcemia ORPHA:746
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF lysine concentr... OMIM:616034
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, C... ORPHA:158048
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Atrial septal defect, Hypertrophic cardiomyopathy, E... OMIM:617303
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... ORPHA:411634
Kleeblattschaedel
Hydrocephalus OMIM:148800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele, Elevated circulating creatine kinase concentration ORPHA:588
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Increased CSF... OMIM:619055
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Vent... OMIM:610333
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoa... OMIM:212065
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia OMIM:618329
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Increased CSF lactate, Abnormal c... OMIM:620306
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... OMIM:235200
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly, Hypoalbuminemia, Atrial septal defe... ORPHA:505248
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Dilated cardiomyopathy, Decreased serum zinc, Hypoalbuminemia, Decreased ci... ORPHA:89842
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Aminoaciduria, Hypokalemia, Hypocalcemia OMIM:617913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Alg12-Cdg
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Hypoalbuminemia, Hyp... ORPHA:79324
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Hypoalbuminemia, A... OMIM:235510
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, De... ORPHA:37042
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Refsum Disease, Classic
Increased CSF protein concentration, Cardiomyopathy, Elevated circulating phytanic acid concentra... OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615181
Pseudohypoparathyroidism Type 1C
Calcinosis, Choroid plexus calcification, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, H... ORPHA:79444
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hyp... OMIM:222470
B4Galt1-Cdg
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hydrocephalus, De... ORPHA:79332
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... ORPHA:57777
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... ORPHA:14
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hydrocephalus, Hypocalcemia, Hyperbilirubinemia, Atrial septal defect ORPHA:163979
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Hypocalcemia, Hyp... ORPHA:667
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Fried Syndrome
Hydrocephalus ORPHA:85335
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ventriculomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly,... OMIM:608836
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Xfe Progeroid Syndrome
Hypoalbuminemia, Ventriculomegaly OMIM:610965
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Mitral valve prolapse ORPHA:2183
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:220210
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology ORPHA:2237
Wilson Disease
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Amin... OMIM:277900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:602501
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypophosphatasia
Hypercalcemia ORPHA:436
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Choroid plexus calcification, Hyperphosphatemia OMIM:103580
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Pearson Syndrome
Hepatomegaly, Hypomagnesemia, Splenomegaly, Abnormal heart morphology, Increased CSF lactate, Car... ORPHA:699
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia OMIM:239200
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia OMIM:192430
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Ventriculomegaly OMIM:617729
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Hyperuri... ORPHA:90041
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ventriculomegaly OMIM:253250
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Increased CSF lactate, Hyperammonemia, Cardiomegaly ORPHA:391428
Pseudohypoparathyroidism Type 1A
Calcinosis, Choroid plexus calcification, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, H... ORPHA:79443
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology OMIM:276950
Cartilage-Hair Hypoplasia
Hepatomegaly, Spinal dysraphism, Cardiomyopathy, Abnormal cardiac septum morphology, Hypocalcemia ORPHA:175
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Elevated circulating creatine kinase concentra... ORPHA:370959
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus ORPHA:163596
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypocalcemia OMIM:300712
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Galloway-Mowat Syndrome 1
Ventriculomegaly, Hypoalbuminemia, Dandy-Walker malformation OMIM:251300
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sple... OMIM:614576
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive... ORPHA:90363
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology OMIM:175700
Pierson Syndrome
Hypoproteinemia OMIM:609049
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Splenomegaly, Hydro... ORPHA:567
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cardiomegaly OMIM:618886
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... OMIM:617478
Juvenile Polyposis Of Infancy
Atrial septal defect, Hypoalbuminemia, Abnormal heart morphology ORPHA:79076
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Acute Interstitial Pneumonia
Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react... ORPHA:79126
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculomegaly ORPHA:93274
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Dilated cardiom... OMIM:253800
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Hyperbilirubinemia, Atrial septal defect, Elevated circulating long chain fatty ac... OMIM:614886
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Griscelli Syndrome
Encephalocele, Hepatomegaly, Splenomegaly, Hydrocephalus, Abnormal circulating lipid concentration ORPHA:381
Plasminogen Deficiency, Type I
Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Hyp... ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Lateral vent... OMIM:613154
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... OMIM:619534
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Enlarged kidney, Increased blood urea nitrogen ORPHA:251004
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Ventriculomegaly ORPHA:79396
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Left ventricular hypertrophy, Hyperchol... ORPHA:90065
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Ventriculomegaly OMIM:615630
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Hyperlipidemia, Elevated circulating creatinine... ORPHA:439232
3C Syndrome
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn... ORPHA:7
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Temple Syndrome
Hypercholesterolemia, Hydrocephalus, Hypertriglyceridemia OMIM:616222
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Colpocephaly, Hypoalbuminem... OMIM:270400
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... ORPHA:465508
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hennekam Syndrome
Pericardial effusion, Splenomegaly, Hypocalcemia ORPHA:2136
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Marburg Hemorrhagic Fever
Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... ORPHA:99826
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Hydrocephalus OMIM:620157
Monosomy 13Q34
Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Hydrocephalus, Lateral ventricle dilatation, He... OMIM:231670
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:218350
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Myocarditis, Hyperkalemia, Hypocalcemia ORPHA:544482
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventriculomegaly, Cardio... OMIM:618798
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Gitelman Syndrome
Pericardial effusion, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Thanatophoric Dysplasia
Atrial septal defect, Hydrocephalus, Ventriculomegaly ORPHA:2655
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... ORPHA:244
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615249
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:603387
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Hypocalcemia OMIM:218330
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Diabetic Embryopathy
Ventricular septal defect, Hydrocephalus, Spinal dysraphism, Transposition of the great arteries,... ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly OMIM:616538
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Triploidy
Hepatomegaly, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly ORPHA:3376
Whipple Disease
Hyponatremia, Hepatomegaly, Pericarditis, Myocarditis, Splenomegaly, Hydrocephalus ORPHA:3452
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... OMIM:615219
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Primary Sclerosing Cholangitis
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Hepatosplenomegaly ORPHA:171
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Hydrocephalus, Ventriculomegaly, Hyperhomocystinemia ORPHA:2169
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Neonatal Lupus Erythematosus
Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology ORPHA:398124
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect, ... OMIM:314390
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Ventriculomegaly, Cardiomegaly OMIM:616897
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia ORPHA:476126
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic stenosis... OMIM:609029
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Hypocalcemic seizures OMIM:612301
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Subvalvular aortic... OMIM:619503
Tetrasomy 15Q26
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, L... OMIM:612863
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... OMIM:619895
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Tetralogy of Fallot, Patent foram... OMIM:612582
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... ORPHA:1335
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cardiomyopathy, Elevated circulating creatinine concentration ORPHA:247691
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:219730
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Restrictive... ORPHA:369837
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
1Q44 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly ORPHA:238769
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Homocystinuria, Ventricu... ORPHA:395
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Enlarged kidney, Mitral valve prolapse ORPHA:730
Walker-Warburg Syndrome
Hydrocephalus, Abnormal circulating creatine kinase concentration, Ventriculomegaly, Dandy-Walker... ORPHA:899
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic stenosis... ORPHA:96170
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Temple Syndrome
Hydrocephalus ORPHA:254516
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ... OMIM:214800
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Desmosterolosis
Ventriculomegaly, Hydrocephalus, Abnormal circulating cholesterol concentration, Total anomalous ... OMIM:602398
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Ventricular septal defect, Holoprosencephaly ORPHA:77298
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Oligomeganephronia
Secundum atrial septal defect, Elevated circulating creatinine concentration ORPHA:2260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Abnormal heart morphology OMIM:601499
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningocele, Spina bifida occulta OMIM:613686
Leptospirosis
Hepatomegaly, Hyperproteinemia, Pericarditis ORPHA:509
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal heart morphology, Hydrocephalus, Hepatosplenomegaly ORPHA:93400
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu... OMIM:614643
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Nephronophthisis 18
Hydrocephalus OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly OMIM:613150
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Thanatophoric Dysplasia Type 1
Atrial septal defect, Hydrocephalus, Ventriculomegaly ORPHA:1860
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Crouzon Syndrome
Hydrocephalus ORPHA:207
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Dextrocardia
Situs inversus totalis, Hydrocephalus, Dextrocardia, Abnormal heart morphology ORPHA:1666
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus ORPHA:261290
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Increased CSF protein concentration, Cardiomegaly OMIM:105210
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Hypocalcemia OMIM:620330
Pheochromocytoma
Hypercalcemia OMIM:171300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Hypocalcemia, Truncus arteriosus, Tetralogy of Fallot OMIM:188400
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Cystathioninuria, Hydrocephalus, Hyperhomocystinemia, ... OMIM:277400
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Trisomy 1Q
Hydrocephalus, Ventricular septal defect, Ventriculomegaly ORPHA:261344
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Dand... OMIM:613001
Rabin-Pappas Syndrome
Hyponatremia, Hydrocephalus OMIM:620155
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Osteootohepatoenteric Syndrome
Hypokalemia, Hydrocephalus, Increased serum bile acid concentration OMIM:619377
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Neurooculorenal Syndrome
Dextrocardia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Hydrocephalus, Mitral valve pro... OMIM:620305
Mirage Syndrome
Hyponatremia, Hydrocephalus, Hyperkalemia OMIM:617053
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hemangioblastoma
Hydrocephalus ORPHA:252054
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Genitopalatocardiac Syndrome
Hydrocephalus, Abnormal cardiac septum morphology ORPHA:2075
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hydrocephalus, Dilated cardiomyopathy, Hyperammonemia,... ORPHA:79282
Hypoplasminogenemia
Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation ORPHA:722
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Hepatosplenomegaly OMIM:309900
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Distal Triplication 15Q
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology ORPHA:314588
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Lowry-Maclean Syndrome
Atrioventricular canal defect, Hydrocephalus ORPHA:2409
Thoracoabdominal Syndrome
Hydrocephalus, Ectopia cordis, Anencephaly, Transposition of the great arteries OMIM:313850
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Abnormal pulmonary valve morphology ORPHA:974
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyp... OMIM:243800
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Abnormal heart morphology ORPHA:1865
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Bresek Syndrome
Hydrocephalus ORPHA:85284
Joubert Syndrome
Situs inversus totalis, Encephalocele, Hydrocephalus ORPHA:475
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:300514
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Dextrocardia ORPHA:220493
Gorlin Syndrome
Hydrocephalus ORPHA:377
Mend Syndrome
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydrocephalus, Abnormal heart morpholog... ORPHA:401973
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Mildly elevated creatine kinase OMIM:620351
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Atrial septal defect, ... OMIM:245600
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly OMIM:608013
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Fg Syndrome Type 1
Atrial septal defect, Hydrocephalus, Ventriculomegaly, Mitral valve prolapse ORPHA:93932
Arachnoiditis
Hydrocephalus ORPHA:137817
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Hurler Syndrome
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Cardiomyopathy, Endocardial fibroe... OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea... OMIM:615287
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy, Aminoaciduria, Communicating hydrocephalus OMIM:616084
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Hydrocephalus OMIM:619951
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Hepatosplenomegaly OMIM:259710
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Hydrocephalus, Pulmonary valve def... ORPHA:1600
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hypoglycorrhachia, Communicating hydrocephalus, Hepatosplenomegaly ORPHA:168577
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy, Endoc... ORPHA:93473
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy OMIM:253220
Muenke Syndrome
Hydrocephalus ORPHA:53271
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Abnormal aortic valve morphology, H... ORPHA:579
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Me... OMIM:236670
Holoprosencephaly
Hyponatremia, Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Hydr... ORPHA:2162
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Hydrocephalus ORPHA:585
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Proteus-Like Syndrome
Communicating hydrocephalus, Splenomegaly, Hydrocephalus ORPHA:2969
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Lateral Meningocele Syndrome
Ventricular septal defect, Meningocele, Bicuspid aortic valve, Hydrocephalus OMIM:130720
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Myelopathy, Hypert... OMIM:252500
H Syndrome
Hydrocephalus, Hypertriglyceridemia, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Desmosterolosis
Splenomegaly, Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return ORPHA:35107
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse OMIM:616914
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Dandy-Walker malformation OMIM:257300
Vipoma
Hepatomegaly, Hypokalemia, Hypercalcemia ORPHA:97282
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Anencephaly, Holoprosenceph... OMIM:269860
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Hyperphosphatemia OMIM:101800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Ppoma
Hepatomegaly, Hypercalcemia ORPHA:97278
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus OMIM:207410
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Ventriculomegaly OMIM:616546
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Abnormal aortic valve morphology, Abnorm... ORPHA:581
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertro... ORPHA:1340
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:115150
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Abnormal cardiac... ORPHA:90652
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1780
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Splenomegaly, Hydrocephalus,... OMIM:249000
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Somatostatinoma
Hepatomegaly, Hypercalcemia ORPHA:97283
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, H... OMIM:309801
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Mitral valve prolapse OMIM:104350
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Communicating hydrocephalus OMIM:244400
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Grfoma
Hepatomegaly, Hypercalcemia ORPHA:97261
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:365
Functioning Gonadotropic Adenoma
Enlarged polycystic ovaries, Hydrocephalus ORPHA:91348
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... ORPHA:904
Joubert Syndrome With Hepatic Defect
Splenomegaly, Hepatomegaly, Occipital encephalocele, Hydrocephalus ORPHA:1454
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Raine Syndrome
Hydrocephalus, Hypophosphatemia OMIM:259775
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation OMIM:619575
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Enlarged kidney OMIM:612651
Glucagonoma
Hepatomegaly, Hypercalcemia ORPHA:97280
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencephaly ORPHA:2166
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Achondroplasia
Hydrocephalus ORPHA:15
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology ORPHA:250989
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Ogden Syndrome
Ventriculomegaly, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Card... OMIM:300855
Igg4-Related Kidney Disease
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... ORPHA:449395
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Splenomegaly, Hydrocephalus, Cardiomyopathy, Cervical myelopathy, Mitral stenosis OMIM:253200
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Hydrocephalus OMIM:618162
Histiocytoid Cardiomyopathy
Hepatomegaly, Hydrocephalus, Ventricular septal defect, Cardiomegaly ORPHA:137675
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Ventriculo... ORPHA:96121
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventricular septal defect, Ventriculomegaly OMIM:101200
Crouzon Syndrome
Hydrocephalus OMIM:123500
Jacobsen Syndrome
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Holoprosencephaly OMIM:147791
Trisomy 8P
Abnormal atrioventricular connection, Hydrocephalus, Abnormal left ventricle morphology, Tetralog... ORPHA:264450
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Opitz-Kaveggia Syndrome
Hydrocephalus, Abnormal heart morphology OMIM:305450
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormal heart morphology ORPHA:137667
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Mitral valve prolapse OMIM:182212
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Bohring-Opitz Syndrome
Ventriculomegaly, Abnormal cardiac septum morphology, Dandy-Walker malformation, Cardiomegaly ORPHA:97297
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... ORPHA:2461
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma OMIM:109400
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... ORPHA:99829
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Monosomy 9Q22.3
Hydrocephalus, Cardiac fibroma, Ventriculomegaly ORPHA:77301
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Marshall-Smith Syndrome
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Ventriculomegaly, Dysplastic aort... OMIM:602535
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Hydrocephalus, Ventriculomegaly ORPHA:1272
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect ORPHA:268249
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Abnormal aortic valve morphology, Ventriculomegaly, Mitral valve pro... ORPHA:2462
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Pmm2-Cdg
Pericarditis, Pericardial effusion, Reduced thyroxin-binding globulin, Hypoalbuminemia, Hypertrop... ORPHA:79318
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Hydrocephalus, Aqueductal stenosis OMIM:619512
Coccidioidomycosis
Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, In... ORPHA:228123
Aicardi-Goutières Syndrome
Cardiomegaly, Increased CSF interferon alpha, Hepatosplenomegaly, Chronic CSF lymphocytosis, Hype... ORPHA:51
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Hydrocephalus, Spina bifida occulta, Ventricular septal defect OMIM:300373
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hydrocephalus OMIM:619321
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Fanconi Anemia
Spina bifida, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology... ORPHA:84
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Splenomegaly, Hydrocephalus, Aortic val... ORPHA:955
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Mitral valve prolapse ORPHA:536467
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Lateral ventricle d... OMIM:210710
Sarcoidosis
Hepatomegaly, Increased CSF protein concentration, Hypercalcemia, Abnormal cerebrospinal fluid mo... ORPHA:797
Williams-Beuren Syndrome
Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Mitral valve prolapse, Myxomatou... OMIM:194050
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Abnormal heart morphology OMIM:227646
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly, Enlarged kidney OMIM:618188
Meckel Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy... ORPHA:564
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Alexander Disease
Aqueductal stenosis, Hydrocephalus ORPHA:58
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Abnormal heart morphology OMIM:311200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Hyperbilirubinemia, Decreased CS... OMIM:619475
Kabuki Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly ORPHA:2322
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Achondroplasia
Hydrocephalus OMIM:100800
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Dandy-Walker malformation, En... OMIM:130650
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Beckwith-Wiedemann Syndrome
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, H... ORPHA:116
Mohr Syndrome
Hydrocephalus OMIM:252100
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Splenomegaly, Aortic valve calcification, Hydrocephalus, Hepatospleno... ORPHA:2072
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo... ORPHA:363700
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly OMIM:253280
Medulloblastoma
Hydrocephalus ORPHA:616
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,... ORPHA:2556
Costello Syndrome
Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Pulmonic stenosis, Atrial septal... OMIM:218040
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Sotos Syndrome
Ventricular septal defect, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Ventri... ORPHA:821
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... OMIM:609192
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Hajdu-Cheney Syndrome
Hydrocephalus, Ventricular septal defect OMIM:102500
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Stromme Syndrome
Hydrocephalus OMIM:243605
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida, Abnormal heart morphology OMIM:114290
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Atrial septal defect, Tet... ORPHA:3472
Tetrasomy 9P
Pericarditis, Dextrocardia, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal mitral va... ORPHA:3310
Fontaine Progeroid Syndrome
Atrial septal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal heart morphology, Left ventr... OMIM:612289
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Enlarged polycystic ovaries, Hydrocephalus ORPHA:95699
Osteogenesis Imperfecta
Abnormal endocardium morphology, Hydrocephalus, Noncommunicating hydrocephalus, Mitral valve prol... ORPHA:666
Lymphangioleiomyomatosis
Hydrocephalus, Chylopericardium ORPHA:538
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Di... OMIM:607872
Pseudoaminopterin Syndrome
Hydrocephalus, Patent foramen ovale ORPHA:221120
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Hydrocephalus, Abnormal heart morphology OMIM:219000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:220386
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Hydrocephalus, Hypertriglyceridemia, Dandy-Walker malformation OMIM:264090
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Craniopharyngioma
Hydrocephalus ORPHA:54595
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Hepatosplenomegaly ORPHA:309282
Peters Plus Syndrome
Hydrocephalus, Bicuspid pulmonary valve, Abnormal cardiac septum morphology, Hypoplastic left hea... ORPHA:709
Cryptococcosis
Hydrocephalus ORPHA:1546
Cockayne Syndrome A
Splenomegaly, Hepatomegaly, Normal pressure hydrocephalus, Ventriculomegaly OMIM:216400
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cardiomyopathy, Total anoma... OMIM:312870
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hydrocephalus, Congenital malformation of the left heart, Pulmonic stenosis... ORPHA:3455
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Wolf-Hirschhorn Syndrome
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:194190
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... OMIM:610168
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Cockayne Syndrome B
Splenomegaly, Hepatomegaly, Normal pressure hydrocephalus OMIM:133540
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Abnormal heart morphology OMIM:218600
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly OMIM:610829
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hypophosph... ORPHA:51608
Meningioma
Hydrocephalus ORPHA:2495
Kabuki Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Lateral ventricle dilatation OMIM:147920
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:175780
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Subependymal nodules ORPHA:805
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mild fetal ventriculomegaly, Patent foramen ovale OMIM:619841
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Severe hydrocepha... OMIM:236680
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Townes-Brocks Syndrome 1
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Tetralogy of F... OMIM:107480
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Peters-Plus Syndrome
Ventricular septal defect, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Ventriculomegaly OMIM:261540
Coffin-Siris Syndrome 12
Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydrocephalus OMIM:619325
Focal Dermal Hypoplasia
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:305600
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Hydrocephalus, Spina bifida OMIM:304120
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Hydrocephalus, Frontal encephalocele, Ventricular septal defect OMIM:268300
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Arl5c

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Arl5c.

No publications found that use IMPC mice or data for Arl5c.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Arl5ctm41380(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arl5ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Arl5ctm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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