Gene Summary

Name:
lysine (K)-specific demethylase 4B
Synonyms:
Jmjd2b,  4732474L06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Kdm4btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating magnesium level Kdm4btm1a(EUCOMM)Wtsi HET   Early adult 3.20×10-05
increased heart weight Kdm4btm1a(EUCOMM)Wtsi HET Early adult 2.73×10-09
decreased circulating total protein level Kdm4btm1a(EUCOMM)Wtsi HET Early adult 7.84×10-05
increased body length Kdm4btm1a(EUCOMM)Wtsi HET   Early adult 4.89×10-05
increased circulating creatinine level Kdm4btm1a(EUCOMM)Wtsi HET   Early adult 1.09×10-07
decreased circulating serum albumin level Kdm4btm1a(EUCOMM)Wtsi HET Early adult 1.35×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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.

Histopathology

Images

8 Images

Legacy Phenotype Associated Images

View all 307 images

View all 18 images

Human diseases caused by Kdm4b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kdm4b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Agenesis of corpus callosum OMIM:619320

The table below shows human diseases predicted to be associated to Kdm4b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Obesity ORPHA:88643
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Cer... OMIM:604213
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary mic... ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... OMIM:610031
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:614019
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... OMIM:608716
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... OMIM:619868
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Cardiomyopathy, Increased circulating creatine kinase MM isoform, Hypermethionin... OMIM:613752
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Lissencephaly 3
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Microcep... OMIM:611603
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Agenesis of... ORPHA:101029
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasia of the brainst... OMIM:615771
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia, Agenesis of corpus callosum OMIM:614111
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ... ORPHA:255182
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Diarrhea 13
Hypoalbuminemia OMIM:620357
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Dilated cardiomyopathy OMIM:620152
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Hyperglutamatemia, Progressive microcephaly, Hypoplasia of... OMIM:618959
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:267700
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401830
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Hypocalcemia, Patent foramen ovale, Hypoproteinemia, Ventricu... ORPHA:26793
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Primary microcephaly, Microlissencephaly, Simplified gyral pat... OMIM:617090
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Ventriculomegaly, Partial agenesis of the corpus callosum, Agenesis of corpus c... ORPHA:85179
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly, Thin corpus callosum, Probst bundles, Agenesis of corpus callosum OMIM:618286
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Ventr... OMIM:620200
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401820
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pattern, Agen... OMIM:618492
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:616570
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Opti... ORPHA:171680
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, Splenomegaly, ... OMIM:620632
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato... ORPHA:247585
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia ORPHA:469
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypo... OMIM:619302
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Elevat... OMIM:613153
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616540
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hep... OMIM:603553
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Tall stature, Agenesis of corpus callosum OMIM:613163
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of corpus callosum, Cer... OMIM:619301
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Agenesis of corpus callosum OMIM:605899
Masa Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Microcep... OMIM:304100
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia, Hepatomegaly OMIM:226300
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Coach Syndrome 2
Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration, Hydrocephalus, Agene... OMIM:619111
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect, Hypomagnesemia OMIM:619908
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Hepatomegaly OMIM:618805
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Dengue Fever
Hypoproteinemia, Hepatomegaly ORPHA:99828
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Alg1-Cdg
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Microcephaly 16, Primary, Autosomal Recessive
Primary microcephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616681
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:166024
Craniotelencephalic Dysplasia
Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypop... ORPHA:1528
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating... OMIM:616050
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callosum, Pachygyria, Ventricul... ORPHA:2512
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Bicuspid aortic valve, Atrial se... OMIM:617744
Congenital Neuronal Ceroid Lipofuscinosis
Elevated circulating creatine kinase concentration, Cerebral hypoplasia, Microcephaly, Agenesis o... ORPHA:168486
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum OMIM:619466
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hepatomegaly OMIM:617872
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect OMIM:235255
Imagawa-Matsumoto Syndrome
Tall stature, Polymicrogyria, Overgrowth, Birth length greater than 97th percentile, Agenesis of ... OMIM:618786
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly OMIM:209950
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Absent... OMIM:218670
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ... ORPHA:79243
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Microcephaly, Frontal cortical atrophy, Parietal cortical atrophy, Agenesis of corpus callosum OMIM:618766
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Elevated circulating creatine kinase concentration, Microcephaly, Col... OMIM:619955
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Ventricular septal... ORPHA:1655
Johanson-Blizzard Syndrome
Hypoproteinemia, Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Hepatomegaly OMIM:603554
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Hepatomegaly, Perimembranous vent... OMIM:608104
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypo... OMIM:616171
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Subependymal cysts, Increased serum pyruvate, Hyperalaninemia, Microcephaly, Partial agenesis of ... OMIM:245349
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Cardiomyopathy, Elevated circulating creatine kinase concentration... OMIM:615895
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:616730
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ... OMIM:600118
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Microcephaly, Cerebral cortical atrophy, Abnormal cere... OMIM:617668
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia cysts, Increased serum pyruvate, Hyperalaninemia, Microcephaly, A... OMIM:312170
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Pericardial effusion, Hypomagnesemia, Hypoalbum... OMIM:618183
Leishmaniasis
Hypoalbuminemia, Hepatomegaly, Splenomegaly ORPHA:507
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Hypochol... OMIM:608776
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Immunodeficiency 32B
Hypoalbuminemia, Hepatomegaly, Splenomegaly OMIM:226990
Mpi-Cdg
Hypoalbuminemia, Hepatomegaly ORPHA:79319
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa... ORPHA:247353
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:308240
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Simplif... OMIM:615095
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Hypoplasia of the brainstem, Cerebral hypoplasia, Lateral ventricle dilatation,... OMIM:618266
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Cerebral cor... OMIM:604360
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... ORPHA:1578
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:2508
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy OMIM:616733
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Hypoplasia of the pons, Lateral ... OMIM:618736
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatomegaly, Dextrocardia, Hypokalemia, Elevated circulating alpha-fetop... OMIM:613095
Glutathionuria
Glutathionuria, Agenesis of corpus callosum OMIM:231950
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Lissencephaly 6 With Microcephaly
Hypoplasia of the corpus callosum, Polymicrogyria, Microlissencephaly, Microcephaly, Simplified g... OMIM:616212
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Microcephaly, Dilated fourth ve... OMIM:620428
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia ORPHA:101071
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... ORPHA:31824
Wolcott-Rallison Syndrome
Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle, Hy... ORPHA:1667
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Pericardial effusion, Hypomagnesemia ORPHA:358
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Abnormal globus pal... OMIM:618603
East Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia ORPHA:199343
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Progressive microcephaly, Type II lissencephaly, Agyria, Elevated circulating crea... OMIM:615249
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Elevated circulatin... ORPHA:370959
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:615286
Multiple Myeloma
Tall stature, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine conc... ORPHA:29073
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypoalbuminemia, Dilated car... ORPHA:367
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:618577
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia OMIM:613070
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Ventricular septal defect, Overriding aorta OMIM:617021
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb... OMIM:620156
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Microhydranencephaly
Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia, Ve... OMIM:605013
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Progressive microcephaly, Abnormal corpus callosum morphology,... ORPHA:561854
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior c... OMIM:617542
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Lateral ventricle di... OMIM:619517
Combined Oxidative Phosphorylation Deficiency 2
Mild fetal ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hyperammonemia, Pericardial effusion, Hypoalbuminemia ORPHA:292
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Joubert Syndrome 30
Dandy-Walker malformation, Ventriculomegaly, Agenesis of corpus callosum, Polymicrogyria OMIM:617622
Nephronophthisis 2
Hyperkalemia, Situs inversus totalis, Elevated circulating creatinine concentration, Enlarged kidney OMIM:602088
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatomegaly OMIM:602579
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly OMIM:616342
Mitochondrial Complex I Deficiency, Nuclear Type 16
Agenesis of corpus callosum, Caudate atrophy OMIM:618238
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Ventriculomegaly OMIM:614583
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern, Primary microcephaly, Partial agen... OMIM:604804
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Hyponatremia, Pericardial effusion, Hepatosplenomegaly, Sp... ORPHA:167
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Agenesis... OMIM:225790
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Cerebellar hypoplasia ORPHA:488635
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects OMIM:615508
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Elevated circulating 2-trans,4-cis-decadieno... OMIM:616034
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the corpus callosum, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callo... OMIM:617695
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Secondary microcephaly, Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus cal... ORPHA:500144
Hepatoportal Sclerosis
Hypoalbuminemia, Splenomegaly, Hyperbilirubinemia ORPHA:64743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypoalbuminemia, Increased circulating ferritin... ORPHA:540
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration OMIM:620366
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:164180
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplasia of the corpus callosum, Cerebral calcification, Microlissencephaly, 4-layered lissence... ORPHA:89844
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Microcephaly, Agenesis of cor... OMIM:614833
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Patent foramen ovale, Hy... OMIM:619991
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cerebellar hypoplasia, Dysgenesis of the basal ganglia, Pachygyria, Agenesis of corpus callosum, ... OMIM:620316
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Elevated circulating a... OMIM:251880
6Q25 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum ORPHA:251056
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morpholog... ORPHA:85443
Craniosynostosis 6
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:616602
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:300887
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Primary microcephaly, Partial agenesis of th... OMIM:607196
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Splenomegaly, Abnor... ORPHA:37042
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Elevated hemoglobin A1c, Lateral ventricle dilatation OMIM:619278
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Mildly e... ORPHA:79102
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Polymicrogyria, Intracerebral periventricular calcifications, Elevated circu... OMIM:608836
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white ma... ORPHA:284417
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra... OMIM:619244
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Cerebral cortical atrophy, Hypoplasia of the pons, Simplified gyral pattern, Agenes... OMIM:617669
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:300215
Septooptic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Agenesis of corpus callosum OMIM:619989
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum OMIM:615433
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation OMIM:300982
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Vent... OMIM:616362
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Abnormal basal ganglia morp... ORPHA:228308
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, P... OMIM:616819
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Hypoalbuminemia, Atrial... OMIM:617303
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Hypoalbuminemia, Constrictive pericarditis ORPHA:67
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, E... ORPHA:36234
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hypocalcemic tetany, Dilated cardiomyopathy ORPHA:73224
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Agenesis of corpus callosum OMIM:250620
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hypomagnesemia, Hypokalemia OMIM:612780
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Hyperproteinemia... ORPHA:90041
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease... ORPHA:89842
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microlissencephaly, Small cerebral cor... OMIM:617914
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal basal ganglia morphology, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Mic... ORPHA:86822
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Abnormal basal ganglia morp... ORPHA:157
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericardial effusion, Pericarditis, Hepatosplenomegaly, Left ventricular hypertroph... OMIM:619487
Walker-Warburg Syndrome
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyr... ORPHA:899
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia, Abnormal circulating calcium concentration OMIM:248190
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:618329
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Subependymal cysts, Hyperglutamatemia, Increased cau... ORPHA:3008
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Greig Cephalopolysyndactyly Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:175700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Lissencephaly, Hydrocephalus, Optic nerve hypoplasia, Type II ... OMIM:614643
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Basal ganglia gliosis, Hypo... OMIM:607596
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Diffuse cerebral atrophy, Basal ganglia calcification, Agenesis of corpus callosum,... OMIM:214150
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Elevated circulating creatine kinase concentration, Agenesis of corpus callosum, Hy... OMIM:616239
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypergalactosemia, Pulmonic stenosis, Increased ci... OMIM:222470
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified gyral pattern,... OMIM:615219
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilata... OMIM:618890
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Primary microcephaly, Agenesis of corpus callosum ORPHA:466688
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Ventriculomegaly, Partial agenesis of the corpus callosum, Cavum se... OMIM:619074
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618142
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbilirubinemia, A... ORPHA:14
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Colpocephaly,... OMIM:620352
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Cardiomyopathy, Pericardial effusion, Pericarditis, Hypoalbuminemia, Hypocholestero... OMIM:212065
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Lateral ventricle dilatation, Corpus callosum atrophy ORPHA:77299
X-Linked Lissencephaly With Abnormal Genitalia
Microcephaly, Pachygyria, Ventriculomegaly, Agenesis of corpus callosum ORPHA:452
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hyperproteinemia, Increased circulating ferriti... ORPHA:158048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Type II lissencephaly, Elevated circulating creatine kinase concentration, Microce... OMIM:613150
Gitelman Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia OMIM:263800
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum ORPHA:238750
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Lissencephaly, Cerebellar vermi... ORPHA:300570
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Hyperammonemia, Lateral ventricle dilatati... OMIM:610015
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Diffuse white matter abnormalities, Agenesis of corpus callosum OMIM:218000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Hepatomegaly OMIM:614376
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnormal cerebral whi... OMIM:613443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Joubert Syndrome 18
Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Partial agenesis of the corpus callosum OMIM:618346
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Pericardial effusion, Hypoalbuminemia, Atrial septal defect, Ventri... OMIM:235510
Alg12-Cdg
Muscular ventricular septal defect, Patent foramen ovale, Hyponatremia, Hypoalbuminemia, Hypochol... ORPHA:79324
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:607131
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Obesity, Lateral ventricle dilatation, Partial agenesi... OMIM:617296
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hyperintensity of cerebral white matter on MRI, Hypocalcemia, Cerebral calcification, Dandy-Walke... OMIM:618476
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Acute Interstitial Pneumonia
Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react... ORPHA:79126
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hepatomegaly, Hypokalemia, Reduced blood urea nitrogen, Decreased circu... OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Elevated circulating... OMIM:253800
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly, Ventricul... ORPHA:99742
Temtamy Syndrome
Ventriculomegaly, Thick corpus callosum, Agenesis of corpus callosum OMIM:218340
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypoplasia of the corpus callosum, Global brain atrophy, Optic nerve hypoplasia, Elevated circula... OMIM:301056
Frontonasal Dysplasia 1
Pericallosal lipoma, Agenesis of corpus callosum OMIM:136760
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Obesity, Overgrowth, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620250
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Enlarged po... ORPHA:2298
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Fg Syndrome 3
Agenesis of corpus callosum OMIM:300406
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Basal ganglia calcification, Lateral ventric... OMIM:221770
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Cortical dysplasia,... OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ... OMIM:613154
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Fumarase Deficiency
Cerebral atrophy, Hyperbilirubinemia, Polymicrogyria, Open operculum, Choroid plexus cyst, Microc... OMIM:606812
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Abnormal heart morphology, He... ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Agenesis of corpus callosum, Eleva... OMIM:614924
Baraitser-Winter Syndrome 1
Microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Ventriculomegaly OMIM:243310
Pearson Syndrome
Hepatomegaly, Hypokalemia, Hypocalcemia, Hyperalaninemia, Cardiomyopathy, Abnormal heart morpholo... ORPHA:699
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Thin corpus callosum, Partial agenesis of the corpus callosum OMIM:619653
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinem... ORPHA:186
Birk-Landau-Perez Syndrome
Hyperkalemia, Microcephaly, Pachygyria, Agenesis of corpus callosum, Increased circulating creati... OMIM:617595
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Elevated urinary aminoisobutyric acid, Thin corpus callosum, M... OMIM:614105
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Aapoaiv Amyloidosis
Cardiac amyloidosis, Elevated circulating creatinine concentration, Hyperlipidemia, Hypertrophic ... ORPHA:439232
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly, Cerebellar hypoplasia OMIM:618731
Structural Heart Defects And Renal Anomalies Syndrome
Atrial septal defect, Tricuspid atresia, Truncus arteriosus, Tetralogy of Fallot, Partial anomalo... OMIM:617478
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the corpus callosum, Global brain atrophy, Progressive microcephaly, Agenesis of co... ORPHA:481152
Pierson Syndrome
Hypoproteinemia OMIM:609049
Subependymal Nodular Heterotopia
Polymicrogyria, Partial agenesis of the corpus callosum, Focal cortical dysplasia ORPHA:101030
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum OMIM:613735
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Reduced circulating transferrin concentration, Hy... ORPHA:90363
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Meckel Syndrome 12
Cerebral hypoplasia, Microcephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Ce... OMIM:616258
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Thin corpus callosum, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agen... OMIM:619720
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Kleefstra Syndrome Due To 9Q34 Microdeletion
Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrophy, Obesity, Agenesis of corpu... ORPHA:96147
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Absent septum pe... OMIM:609053
Wilson Disease
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia... OMIM:277900
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Agenesis of corpus callosum OMIM:619320
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Decreased serum creatinine, Microce... OMIM:618885
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Septo-optic dysplasia, Obesity, Agenesis of corpus callosum, Aplasia/Hypo... ORPHA:3157
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, ... OMIM:236670
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation, Cortical dysplasia, ... OMIM:613001
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ... OMIM:615802
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Colpocephaly, Agenesis of corpus callo... OMIM:620113
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Anencephaly, Agenesis of corpus callosum ORPHA:2189
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Curry-Jones Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:1553
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Hypothalamic hamartoma, Ventr... OMIM:619775
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Chiari Malformation Type Ii
Hydrocephalus, Agenesis of corpus callosum OMIM:207950
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... ORPHA:85451
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulating apolipoprotein A-I c... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Microcephaly, Di... OMIM:617751
Monosomy 13Q34
Microcephaly, Obesity, Hypercalcemia, Agenesis of corpus callosum