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Gene: Kdm4b MGI:2442355

Gene Summary

Name:

lysine (K)-specific demethylase 4B

Synonyms:

Jmjd2b, 4732474L06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased body length	Kdm4b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.89×10^-05
preweaning lethality, incomplete penetrance	Kdm4b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating creatinine level	Kdm4b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.09×10^-07
increased heart weight	Kdm4b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.73×10^-09
increased circulating magnesium level	Kdm4b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.20×10^-05
decreased circulating serum albumin level	Kdm4b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.35×10^-05
decreased circulating total protein level	Kdm4b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.84×10^-05

Download data as: TSV XLS

Select physiological systems to view:

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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
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

View images

Legacy Phenotype Associated Images

Kdm4b^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

Kdm4b^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Kdm4b^{tm1a(EUCOMM)Wtsi}
body, HET, Male, WTSI

Kdm4b^{tm1a(EUCOMM)Wtsi}
head, HET, Male, WTSI

View all 307 images

Kdm4b^{tm1a(EUCOMM)Wtsi}
brain, WT, Male, WTSI

Kdm4b^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

View all 18 images

Kdm4b^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Kdm4b^{tm1a(EUCOMM)Wtsi}
eye, synechia, corneal opacity, abnormal pupil morphology, cornea/lens fusion, HET, Female, WTSI

Kdm4b^{tm1a(EUCOMM)Wtsi}
eye, abnormal pupil morphology, abnormal placement of pupils, HET, Female, WTSI

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.

Human diseases associated with Kdm4b (1 diseases)
Human diseases predicted to be associated with Kdm4b (721 diseases)

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		Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320

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

Disease	Matching phenotypes	Source
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ...	OMIM:619868
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H...	OMIM:611603
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
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
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum, Hyperammonemia	OMIM:614111
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Developmental And Epileptic Encephalopathy 88	Hyperglutamatemia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Inferior cere...	OMIM:618959
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Congenital Analbuminemia	Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypopro...	ORPHA:86816
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly	OMIM:618286
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr...	OMIM:620200
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:616570
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Lissencephaly, X-Linked, 1	Pachygyria, Agenesis of corpus callosum, Agyria, Lissencephaly	OMIM:300067
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hereditary Fructose Intolerance	Hepatomegaly, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Primary Intestinal Lymphangiectasia	Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Agenesis of cerebellar vermis, Elevated circulating creatine kinase concentrati...	OMIM:613153
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia, Tall stature	OMIM:613163
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly...	ORPHA:247585
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Glycine Encephalopathy 1	Hyperglycinemia, Agenesis of corpus callosum, Hyperglycinuria	OMIM:605899
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S...	OMIM:603553
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo...	OMIM:304100
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Coach Syndrome 2	Elevated circulating creatinine concentration, Cerebellar vermis hypoplasia, Agenesis of corpus c...	OMIM:619111
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hepatomegaly, Hypoalbuminemia	OMIM:226300
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:618805
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect, Hypomagnesemia	OMIM:619908
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir...	OMIM:618528
Dengue Fever	Hepatomegaly, Hypoproteinemia	ORPHA:99828
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating...	OMIM:616050
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Lissencephaly, Cerebellar hypoplasia, Agenesi...	ORPHA:1528
Autosomal Recessive Primary Microcephaly	Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul...	ORPHA:2512
Congenital Neuronal Ceroid Lipofuscinosis	Elevated circulating creatine kinase concentration, Microcephaly, Neuronal loss in the cerebral c...	ORPHA:168486
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly	OMIM:619466
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Imagawa-Matsumoto Syndrome	Birth length greater than 97th percentile, Overgrowth, Polymicrogyria, Agenesis of corpus callosu...	OMIM:618786
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia	OMIM:235255
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve, Decreased serum creatinine, Hypohomocysteinemia, Hyp...	OMIM:617744
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypo...	ORPHA:255138
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Immunodeficiency 27A	Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly	OMIM:209950
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Periventricular leukomalacia, Microcephaly, Partial agenesis of the cor...	ORPHA:79243
Dworschak-Punetha Neurodevelopmental Syndrome	Elevated circulating creatine kinase concentration, Microcephaly, Dysplastic corpus callosum, Col...	OMIM:619955
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly	OMIM:619013
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Johanson-Blizzard Syndrome	Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocardia	ORPHA:2315
Omenn Syndrome	Splenomegaly, Hepatomegaly, Hypoproteinemia	OMIM:603554
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoprot...	ORPHA:1655
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Dilated cardiomyo...	OMIM:615895
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Elevated circulating creatinine concentration, Perimembranous ventricular septal de...	OMIM:608104
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,...	OMIM:600118
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Microcephaly, Partial agenesis of the corpus callosum, Subependymal cys...	OMIM:245349
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm...	ORPHA:247598
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Hepatomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal...	OMIM:617668
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Microcephaly, Cerebral atrophy, Basal ganglia cysts, Hyperalaninemia, A...	OMIM:312170
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Hypoalbuminemia	OMIM:226990
Leishmaniasis	Splenomegaly, Hepatomegaly, Hypoalbuminemia	ORPHA:507
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Mpi-Cdg	Hepatomegaly, Hypoalbuminemia	ORPHA:79319
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb...	ORPHA:247353
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Obesity, Hypoplasia of the corpus callosum, Abn...	OMIM:604360
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasi...	OMIM:618266
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn...	OMIM:618183
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Elevated circulating creatinine concentration	OMIM:616733
Alg13-Cdg	Abnormal lateral ventricle morphology, Global brain atrophy	ORPHA:324422
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Glutathionuria	Agenesis of corpus callosum, Glutathionuria	OMIM:231950
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene...	OMIM:618736
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:618603
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia	ORPHA:101071
Colchicine Poisoning	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc...	ORPHA:31824
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ...	OMIM:613095
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Gitelman Syndrome	Pericardial effusion, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de...	ORPHA:1667
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Microcephaly, Hydrocephalus, Hypoplasia of th...	OMIM:615249
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc...	ORPHA:1578
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Elevated circulating creatine kinase concentration, Optic nerve hypopla...	ORPHA:370959
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:615286
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Tal...	ORPHA:29073
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypo...	ORPHA:367
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Ventricular septal defect, Overriding aorta, Hypoalbuminemia	OMIM:617021
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618577
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Liver Failure, Infantile, Transient	Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:401815
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph...	ORPHA:561854
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr...	OMIM:619517
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus...	OMIM:617542
Nephronophthisis 2	Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney	OMIM:602088
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Combined Oxidative Phosphorylation Deficiency 2	Mild fetal ventriculomegaly, Agenesis of corpus callosum	OMIM:610498
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia	ORPHA:292
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia	OMIM:602579
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr...	ORPHA:167
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614583
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:488635
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:617695
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S...	ORPHA:500144
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami...	OMIM:251880
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Hepatoportal Sclerosis	Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	ORPHA:540
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2182
Oculocerebrocutaneous Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation	OMIM:164180
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
2,4-Dienoyl-Coa Reductase Deficiency	Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hyperlysinuria, Hypoplasia of the co...	OMIM:616034
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal...	ORPHA:89844
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Holoprosencephaly 11	Agenesis of corpus callosum, Microcephaly	OMIM:614226
Liver Disease, Severe Congenital	Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat...	OMIM:619991
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:251056
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:616602
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Pachygyria	OMIM:614870
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morpholog...	ORPHA:85443
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly	OMIM:619278
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Increased circulating ...	ORPHA:90041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, De...	ORPHA:37042
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	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:218350
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly	OMIM:300215
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o...	OMIM:617669
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Agenesis of corpus callosum	OMIM:250620
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly	OMIM:615433
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:182230
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Hypoalbuminemia, Atrial septal defect, Hypertrophic cardiomyopathy, E...	OMIM:617303
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Vent...	OMIM:616362
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Simplified gyral pattern, Hyposerinemia, Lateral ventricle dilatati...	ORPHA:284417
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Elevated circulating creatine kinase concentration,...	OMIM:608836
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ...	ORPHA:36234
Martsolf Syndrome 2	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619420
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk...	OMIM:615889
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Hypomagnesemia, Mildly e...	ORPHA:79102
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma...	ORPHA:899
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Hypoalbuminemia, Left ventr...	OMIM:619487
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology	ORPHA:67
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebral calcificatio...	ORPHA:228308
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p...	OMIM:607596
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia	OMIM:618329
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Agyria, Elevated circulating creatine kinase concentration, Optic nerve hypopla...	OMIM:614643
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene...	OMIM:214150
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dilated cardiomyopathy, Decreased serum zinc, Hypoalbuminemia, Decreased ci...	ORPHA:89842
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Elevated circulating creatine kinase concentration, Hypoplasia of th...	OMIM:616239
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep...	OMIM:618890
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Cerebral calcification, Elevated circulating creatine kinase concen...	ORPHA:157
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca...	OMIM:620352
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Cerebral white matter atrophy, Hyperglutamatemia, Hyp...	ORPHA:3008
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Lateral ventricle dilatation, Microcephaly, Diffuse cerebral atrophy	ORPHA:77299
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	ORPHA:158048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, V...	OMIM:619074
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Hypocholestero...	OMIM:212065
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hyp...	OMIM:222470
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Type II lissencephaly, Microcephaly, Hydrocep...	OMIM:613150
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:238750
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co...	ORPHA:14
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:452
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218000
Wilson Disease	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Amin...	OMIM:277900
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Glutamine Deficiency, Congenital	Hypoglutaminemia, Hyperammonemia, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of...	OMIM:610015
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Hypoalbuminemia, A...	OMIM:235510
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Hypocalcemia, Cerebellar hypoplasia, Hyperintensity of cer...	OMIM:618476
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Elevated circulating creatinine concentration	OMIM:614376
Alg12-Cdg	Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Hypoalbuminemia, Hyp...	ORPHA:79324
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Hypomagnesemia 3, Renal	Hyperuricemia, Hypomagnesemia	OMIM:248250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Ventriculomegaly, Agenesis of cerebellar vermis, Elevated circulatin...	OMIM:615287
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,...	OMIM:617296
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callosum, Leukoencephalop...	OMIM:614924
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypomagnesemia	OMIM:248190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agyria, Elevated circulating creatine kinase concentration, Hypoplasia of the pyramidal tract, Hy...	OMIM:253800
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Obesity	OMIM:620250
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Frontonasal Dysplasia 1	Pericallosal lipoma, Agenesis of corpus callosum	OMIM:136760
Acute Interstitial Pneumonia	Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react...	ORPHA:79126
Fg Syndrome 3	Agenesis of corpus callosum	OMIM:300406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating creatine kinase concentration, Type II lissencephaly, Hypo...	OMIM:613154
Temtamy Syndrome	Agenesis of corpus callosum, Thick corpus callosum, Ventriculomegaly	OMIM:218340
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Reduced blood urea nitrogen,...	OMIM:219800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventriculomegaly, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Mic...	OMIM:301056
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Microcephaly, Elevated urinary aminoisobutyric acid, Beta-alaninuria, Lat...	OMIM:614105
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Cerebral cortical hemiatrophy	ORPHA:306669
Birk-Landau-Perez Syndrome	Microcephaly, Hyperkalemia, Increased circulating creatine kinase MB isoform, Pachygyria, Agenesi...	OMIM:617595
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormal heart morphology, Hepatosplenomegaly, Hypoalbuminemia, Atrial septal defect, Hypertrophi...	ORPHA:505248
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Inc...	ORPHA:2298
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Microcephaly, Lissencephaly, Agenesis of corpus callosum, Ventricul...	ORPHA:99742
Baraitser-Winter Syndrome 1	Microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:243310
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:521308
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Pearson Syndrome	Hepatomegaly, Hypomagnesemia, Splenomegaly, Abnormal heart morphology, Cardiomyopathy, Hypokalemi...	ORPHA:699
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Fumarase Deficiency	Microcephaly, Choroid plexus cyst, Cerebral atrophy, Aminoaciduria, Hypoplasia of the brainstem, ...	OMIM:606812
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati...	OMIM:617478
Pierson Syndrome	Hypoproteinemia, Progressive microcephaly, Microcephaly	OMIM:609049
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria	ORPHA:101030
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly	OMIM:618731
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:613735
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of the corpus callosum, Hyperin...	ORPHA:481152
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ...	OMIM:609053
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive...	ORPHA:90363
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	OMIM:619720
Aapoaiv Amyloidosis	Cardiac amyloidosis, Hypertrophic cardiomyopathy, Hyperlipidemia, Elevated circulating creatinine...	ORPHA:439232
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Obesity, Subcortical cerebral atrophy, Cerebral cortical ...	ORPHA:96147
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Agyria, Elevated circulating creatine kinase concentration, Optic nerve hypopla...	OMIM:236670
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Obesity, Aplasia/Hypopla...	ORPHA:3157
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Po...	OMIM:619775
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:238769
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasi...	OMIM:615802
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Chiari Malformation Type Ii	Hydrocephalus, Agenesis of corpus callosum	OMIM:207950
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid...	ORPHA:411634
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:617751
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Hypoplasia of the co...	ORPHA:420179
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy	ORPHA:363654
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Microcephaly, Abnormal cerebral white matter morphology,...	OMIM:618885
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Monosomy 13Q34	Microcephaly, Agenesis of corpus callosum, Hypercalcemia, Obesity	ORPHA:96168
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Ritscher-Schinzel Syndrome 4	Mild fetal ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker mal...	OMIM:619435
Juvenile Polyposis Of Infancy	Atrial septal defect, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79076
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Desmosterolosis	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Emanuel Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter morphology, Dandy-W...	ORPHA:96170
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Xp21 Deletion Syndrome	Hypertriglyceridemia, Agenesis of corpus callosum, Elevated circulating creatine kinase concentra...	ORPHA:261476
Ring Chromosome 22 Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus	OMIM:612863
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Thin corpus callosum, Microcephaly	OMIM:615716
Holoprosencephaly 5	Lateral ventricle dilatation, Hydrocephalus, Microcephaly	OMIM:609637
Combined Oxidative Phosphorylation Defect Type 39	Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma...	ORPHA:565624
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li...	ORPHA:35107
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Cerebral calcification, Focal hypointensity of cerebral white matter on MRI, Elevated circulating...	ORPHA:247691
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Obesity, Microcephaly	OMIM:619312
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:261344
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Slc35A2-Cdg	Cerebral white matter atrophy, Increased circulating thyroglobulin level, Microcephaly, Cortical ...	ORPHA:356961
Marburg Hemorrhagic Fever	Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	ORPHA:99826
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum, Choroid plexus cyst	OMIM:612337
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral v...	OMIM:608629
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,...	OMIM:618606
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Paganini-Miozzo Syndrome	Hyperalaninemia, Lateral ventricle dilatation	OMIM:301025
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Diffuse white matt...	ORPHA:208447
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leukomala...	OMIM:617360
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr...	OMIM:617260
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella...	OMIM:618291
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ...	ORPHA:314679
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Co...	ORPHA:468631
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Acromelic Frontonasal Dysplasia	Hypoplasia of the olfactory bulb, Agenesis of corpus callosum, Ventriculomegaly, Choroid plexus cyst	ORPHA:1827
Joubert Syndrome With Renal Defect	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria	ORPHA:220497
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasi...	OMIM:614219
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Intellectual Disability-Strabismus Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363528
Cach Syndrome	Microcephaly, Nonketotic hyperglycinemia, Cerebral atrophy, Lateral ventricle dilatation, Dysgyria	ORPHA:135
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Sotos Syndrome	Ventriculomegaly, Partial agenesis of the corpus callosum, Increased body weight, Overgrowth, Cav...	OMIM:117550
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Pancreatic Agenesis-Holoprosencephaly Syndrome	Reduced C-peptide level, Agenesis of corpus callosum, Hypoamylasemia	ORPHA:556955
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Agnathia-Otocephaly Complex	Agenesis of corpus callosum	OMIM:202650
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Hydrocephalus, ...	OMIM:620305
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Hydrocephalus, Colpocephaly, Periventricular leukomalacia, Thin corpus callosum, Ve...	OMIM:619833
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Disproportionate tall stature, Agenesis of corpus callosum, Tall stature	OMIM:309520
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Cerebral hypoplasia, Cerebella...	OMIM:257300
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618651
Primary Sclerosing Cholangitis	Splenomegaly, Hepatomegaly, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:171
Immunodeficiency 49	Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Joubert Syndrome With Ocular Defect	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria	ORPHA:220493
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Elevated circulating creatine kinase concentration	OMIM:618733
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	ORPHA:464738
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,...	ORPHA:2148
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Overweight, Hyperintensity of cerebral white matter on MRI,...	ORPHA:2822
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration, Enlarged kidney, Mitral valve prolapse	ORPHA:730
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities	OMIM:600721
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Choroid plexus cyst, Calcification of ...	OMIM:603671
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubin...	OMIM:619534
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypoalbuminemia, Elevated circulating 7-de...	OMIM:270400
Kleefstra Syndrome	Microcephaly, Obesity, Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:261494
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Macrogyria, Colp...	OMIM:614866
Oligomeganephronia	Secundum atrial septal defect, Elevated circulating creatinine concentration	ORPHA:2260
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:605039
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Partial agenesis o...	OMIM:619895
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene...	OMIM:613457
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Subvalvular aortic...	OMIM:619503
Curry-Jones Syndrome	Megalencephaly, Hemimegalencephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:601707
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum	OMIM:617854
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Dand...	ORPHA:3078
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp...	OMIM:243605
Pseudotrisomy 13 Syndrome	Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum	OMIM:264480
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Mic...	ORPHA:314621
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
15Q Overgrowth Syndrome	Hydrocephalus, Disproportionate tall stature, Overgrowth, Agenesis of corpus callosum, Dandy-Walk...	ORPHA:314585
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:261236
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Microcephaly	ORPHA:85290
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w...	OMIM:620075
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly	ORPHA:87
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:619381
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:619148
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Hyperalaninemia	OMIM:619847
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Aplasia/Hypoplasia of the cerebell...	OMIM:612651
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ...	ORPHA:457284
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Lateral ventricle dilatation, Hydrocephalus	OMIM:231670
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu...	OMIM:619512
Mosaic Trisomy 8	Agenesis of corpus callosum, Tall stature	ORPHA:96061
Fryns Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	OMIM:619418
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callos...	ORPHA:544488
Marshall-Smith Syndrome	Ventriculomegaly, Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrop...	OMIM:602535
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Aicardi Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, ...	OMIM:304050
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebral atrophy, Leukoencephalopathy, La...	ORPHA:572798
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Leptospirosis	Hepatomegaly, Hyperproteinemia, Pericarditis	ORPHA:509
8P Inverted Duplication/Deletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Cerebellar vermis hypoplasia, Absent septum pellucidum, Abnormal basal ganglia ...	ORPHA:397715
Alexander Disease	Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus ca...	ORPHA:58
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu...	OMIM:101200
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Polymicrogyria, Agenesi...	OMIM:277170
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261323
Opitz Gbbb Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Hypoplasia of the corpus callosum, Dan...	ORPHA:2745
Melas	Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c...	ORPHA:550
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:300000
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration,...	OMIM:242840
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Meckel Syndrome, Type 1	Dilated fourth ventricle, Ventriculomegaly, Microcephaly, Hydrocephalus, Anencephaly, Elevated am...	OMIM:249000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:618914
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Microcephaly	OMIM:174300
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy	OMIM:607485
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal...	OMIM:301043
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Hypothalamic hamartoma, ...	OMIM:206900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym...	OMIM:618820
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l...	ORPHA:33364
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly	ORPHA:209905
16Q24.3 Microdeletion Syndrome	Colpocephaly, Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Ventriculomegaly	ORPHA:261250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral atrophy, Hy...	OMIM:311200
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy,...	OMIM:151050
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Abnormal circulating thyroglobulin level, Agenesis of corpus callosum, Optic nerve hy...	ORPHA:226307
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus ca...	ORPHA:97297
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Ventriculomegaly, Abnormal periven...	ORPHA:1855
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular leukomal...	ORPHA:508498
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:227646
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m...	ORPHA:293725
Perlman Syndrome	Agenesis of corpus callosum, Large for gestational age	OMIM:267000
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum, Microce...	OMIM:618500
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Overgrowth, Hypoplasia of the corpus callosum, Agenesis of ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Overgrowth, Hypoplasia of the corpus callosum, Agenesis of ...	ORPHA:352665
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Igg4-Related Kidney Disease	Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin...	ORPHA:449395
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Cog5-Cdg	Microcephaly, Lateral ventricle dilatation, Cerebral white matter atrophy, Diffuse cerebral atrophy	ORPHA:263487
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Absent septum pellucidum, Large for gestational age, Microcephaly, Birth length greater than 97th...	OMIM:300868
Koolen-De Vries Syndrome Due To A Point Mutation	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Slen...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Slen...	ORPHA:363958
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Hartsfield Syndrome	Hypernatremia, Agenesis of corpus callosum, Microcephaly	OMIM:615465
Yellow Fever	Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat...	ORPHA:99829
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:264200
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Holoprosencephaly 7	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the brainstem...	OMIM:610828
Fryns Syndrome	Large for gestational age, Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Agenesis...	OMIM:229850
Jacobsen Syndrome	Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2308
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	ORPHA:434179
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Coffin-Siris Syndrome	Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly	ORPHA:1465
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Disproportionate tall stature, Agenesis of corpus callosum,...	ORPHA:280
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
6Q Terminal Deletion Syndrome	Obesity, Abnormal cerebral white matter morphology, Colpocephaly, Cerebellar hypoplasia, Hypoplas...	ORPHA:75857
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Neu-Laxova Syndrome 1	Choroid plexus cyst, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly,...	OMIM:256520
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:300373
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Hydrocephalus, Polymicrogyria, Obesity, Leukoencephalopathy, Lateral ventricle dila...	OMIM:607872
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum	OMIM:613884
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:506358
Holoprosencephaly 9	Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus ...	OMIM:610829
Simpson-Golabi-Behmel Syndrome	Tall stature, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, M...	OMIM:619841
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Degcags Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hyperbilirubinemia, Microcephaly	OMIM:619488
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hydrocephalus, Hypocalcemic seizures	OMIM:612301
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc...	OMIM:194190
1P36 Deletion Syndrome	Microcephaly, Obesity, Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1606
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus	OMIM:619575
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Rubinstein-Taybi Syndrome 1	Hyperintensity of cerebral white matter on MRI, Truncal obesity, Agenesis of corpus callosum, Mic...	OMIM:180849
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Khan-Khan-Katsanis Syndrome	Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly, Microcephaly	OMIM:618460
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:615948
Monosomy 22Q13.3	Agenesis of corpus callosum, Obesity	ORPHA:48652
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis...	OMIM:236680
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:619869
Yunis-Varon Syndrome	Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pach...	ORPHA:3472
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:220111
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:619479
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere...	ORPHA:2273
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Semilobar Holoprosencephaly	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93924
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Hypertriglyceridemia, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o...	OMIM:300896
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly, Cerebellar vermis hypoplasia, Microcephaly	OMIM:620083
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Holoprosencephaly 1	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:236100
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Slender build, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenes...	ORPHA:3455
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:477993
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619480
Pmm2-Cdg	Pericarditis, Pericardial effusion, Reduced thyroxin-binding globulin, Hypoalbuminemia, Hypertrop...	ORPHA:79318
Baller-Gerold Syndrome	Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:218600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618367
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Birth length greater than 97th percentile, Hydrocephalus, Overgrowt...	OMIM:312870
Focal Dermal Hypoplasia	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:305600
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:95494
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Agenesis of corpus callosum, Ventriculomegaly	OMIM:261540
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261552
Coffin-Siris Syndrome 1	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malforma...	OMIM:135900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Periventricular leukomalacia, Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyra...	ORPHA:500150
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Holoprosencephaly 2	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:157170
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha...	ORPHA:2152
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Microcephaly	OMIM:614098
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Secondary microcephaly, Obesity, Abnormal corpus callosum ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Secondary microcephaly, Obesity, Abnormal corpus callosum ...	ORPHA:353277
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callo...	OMIM:216340
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Craniofacial Microsomia 1	Hydrocephalus, Agenesis of corpus callosum	OMIM:164210

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye with optic nerve - hypoplasia	Kdm4b^{tm1a(EUCOMM)Wtsi}	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kdm4b.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mapping brain gene coexpression in daytime transcriptomes unveils diurnal molecular networks and deciphers perturbation gene signatures.	Neuron (October 2022)	Kdm4b^{tm1a(EUCOMM)Wtsi}	PMC9665885
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.	American journal of human genetics (November 2020)	Kdm4b^{tm1a(EUCOMM)Wtsi}	33232677
The KDM4/JMJD2 histone demethylases are required for hematopoietic stem cell maintenance.	Blood (August 2019)	Kdm4b^{tm1c(EUCOMM)Wtsi}	PMC6776794
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Kdm4b^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Kdm4b^{tm1a(EUCOMM)Wtsi}	PMC6459510
KDM4B protects against obesity and metabolic dysfunction.	Proceedings of the National Academy of Sciences of the United States of America (May 2018)	Kdm4b^{tm1c(EUCOMM)Wtsi} Kdm4b^{tm1a(EUCOMM)Wtsi} Kdm4b^{tm1d(EUCOMM)Wtsi}	29844188
Continual removal of H3K9 promoter methylation by Jmjd2 demethylases is vital for ESC self-renewal and early development.	The EMBO journal (June 2016)	Kdm4b^{tm1c(EUCOMM)Wtsi} Kdm4b^{tm1a(EUCOMM)Wtsi}	PMC4899663
Jmjd2/Kdm4 demethylases are required for expression of Il3ra and survival of acute myeloid leukemia cells.	Genes & development (June 2016)	Kdm4b^{tm1c(EUCOMM)Wtsi}	PMC4911927

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
Kdm4b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Kdm4b^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Kdm4b MGI:2442355

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Kdm4b mutations

Histopathology

IMPC related publications

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